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Mon Apr 4 11:08:39 2005
Papers with one of the following phrases in the title:
fragile x or FMRP or trinucleotitde expansion or nucleotide expansion or cgg

Nodes: 2647, Authors: 5321, Journals: 428, Outer References: 16458, Words: 3536
Collection span: 1967 - 2005
View: Overview. Sorted by GCS.
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2101001334 1995 ANNALS OF NEUROLOGY 38(3):499-499
BERRYKRAVIS E; CIURLIONIS R
OVEREXPRESSION OF FRAGILE-X GENE (FMR-1) TRANSCRIPTS IN NEURAL CELLS RESULTS IN INCREASED LEVELS OF CYCLIC ADENOSINE-MONOPHOSPHATE PRODUCTION
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2102251338 1995 ARCHIVES OF DISEASE IN CHILDHOOD 72(6):544-544
TURK J
TREATMENT OF FRAGILE-X SYNDROME
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2103001343 1995 BIOLOGICAL PSYCHIATRY 37(9):629-629
REISS AL
FRAGILE-X SYNDROME
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2104261346 1995 BONE MARROW TRANSPLANTATION 16(4):625-626
MORTON J; ARNOLD L; FLETCHER B; MCCARTHY C; ROWELL J; et al.
ALLOGENEIC BMT FROM A DONOR WITH FRAGILE-X SYNDROME - CYTOGENETIC AND MOLECULAR EVALUATION
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2105451348 1995 BRAIN & DEVELOPMENT 17(5):322-322
NAKAHORI Y
THE INCIDENCE OF THE FRAGILE-X SYNDROME IN JAPANESE - COMMENTARY ON NANBAS PAPER
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2106471349 1995 BRAIN & DEVELOPMENT 17(5):323-323
KONDO I
NONRADIOACTIVE DNA DIAGNOSIS FOR THE FRAGILE-X SYNDROME IN JAPANESE MENTALLY-RETARDED MALES - COMMENT
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2107001350 1995 BRAIN AND COGNITION 28(1):111-111
GRIGSBY J; KAYE K
VARIABLE EXPRESSION OF DEVELOPMENTAL GERSTMANN SIGNS IN FRAGILE-X SYNDROME
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2108001351 1995 BRAIN AND COGNITION 28(1):111-112
GRIGSBY J; KAYE K
DISSOCIATIONS IN DEVELOPMENTAL DYSCALCULIA SECONDARY TO FRAGILE-X SYNDROME
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2109011352 1995 BRITISH JOURNAL OF PSYCHIATRY 166:688-688
COOKE LB
BEHAVIOR AND DEVELOPMENT IN FRAGILE-X SYNDROME - DYKENS,E
00
2110001354 1995 CLINICAL CHEMISTRY 41(11):30-30
RADU DN; CHIANG CS
RAPID, NONRADIOACTIVE SOUTHERN BLOT METHOD FOR DETECTING FRAGILE-X MUTATIONS
00
#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2111001356 1995 CYTOGENETICS AND CELL GENETICS 69(1-2):116-116
HOWARDPEEBLES PN
IT IS TIME TO ABANDON THE CYTOGENETIC FRAGILE-X TEST
00
21129231357 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):167-184
Hagerman R; Staley L; Brown WT; Taylor A; Meadow K; et al.
Conference summary: Fourth International Conference on Fragile X and X-linked Mental Retardation sponsored by the National Fragile X Foundation
00
2113001358 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):185-186
Nommensen D
Report of the Executive Director of the National Fragile X Foundation
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211412211370 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):319-326
Wake SA; Robinson H
Assessment of counselling of normal males and normal transmitting male carriers identified in fragile X families
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21152231373 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):345-352
Rattazzi MC
Protein therapy in fragile X syndrome - A brief overview of principles, potentials and problems
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2116071374 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):359-362
Lin JFH
Introduction to fragile X syndrome for parents
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2117001375 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):363-366
Glass L
Females with fragile X: A parent's perspective
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2118691376 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):370-379
Holden JJA
Workshop for family and friends .1. The fragile X gene and its mutations
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21197181378 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):396-404
Mazzocco MMM; Lachiewicz AM; Kovar CG; Freund LS; Baumgardner TL; et al.
Psychological and emotional studies of the fragile X mutation - A workshop summary
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2120001381 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):411-416
[Anon]
4th International Fragile X and X-Linked Mental Retardation Conference - Albuquerque, NM, USA, June 8-12, 1994 - Abstracts
00
#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
212113161382 1995 DIAGNOSTIC MOLECULAR PATHOLOGY 4(3):158-161
NABER SP
MOLECULAR DIAGNOSIS OF FRAGILE-X SYNDROME
00
2122001385 1995 EPILEPSIA 36:S1-S1
KLUGER G; BOHM I; LAUB MC; WALDENMEIER C; STUHRMANNSPANGENBERG M
EEG IN CHILDREN WITH FRAGILE-X PREMUTATION
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2123001386 1995 EPILEPSIA 36:S244-S244
SINGH R; SUTHERLAND G; MANSON J
SEIZURES WITH EPILEPTOGENIC EEG PATTERN IN 2 SISTERS WITH FRAGILE X-SYNDROME
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2124001387 1995 FASEB JOURNAL 9(6):A1324-A1324
MITAS M; YU A; DILL J; HAWORTH IS
HAIRPIN PROPERTIES OF SINGLE-STRANDED-DNA CONTAINING G+C-RICH TRIPLET REPEATS - (CTG)(15) AND (CGG)(15)
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2125001388 1995 FASEB JOURNAL 9(6):A1324-A1324
SMITH SS; LAAYOUN A; BAKER DJ; KHO MR
RECOGNITION OF TELOMERE-LIKE STRUCTURES FROM THE HUMAN C-HA-RAS GENE AND THE TRINUCLEOTIDE REPEAT OF THE FMR-1 GENE OF FRAGILE-X BY HUMAN DNA METHYLTRANSFERASE
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2126341389 1995 GENETIC COUNSELING 6(2):97-101
BORGHGRAEF M; SWILLEN A; VANDENBERGHE H; FRYNS JP
FRAGILE-X BOYS - EVOLUTION OF THE MENTAL AGE IN CHILDHOOD - PRELIMINARY DATA ON 10 PREPUBERTAL BOYS
00
2127001405 1995 JOURNAL OF CELLULAR BIOCHEMISTRY :100-100
MCMURRAY CT; GACY AM; GOELLNER G
HAIRPIN STABILITY DETERMINES THE THRESHOLD AND POTENTIAL FOR NUCLEOTIDE EXPANSION ASSOCIATED WITH HUMAN NEURODEGENERATIVE DISEASE
00
2128001406 1995 JOURNAL OF CELLULAR BIOCHEMISTRY :373-373
WILLEMS PJ; BAKKER CE; REYNIERS E; VERHEIJ C; DEBOULLE K; et al.
A TRANSGENIC MOUSE MODEL FOR FRAGILE-X SYNDROME
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2129011407 1995 JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES 36(4):707-707
TURK J
BEHAVIOR AND DEVELOPMENT IN FRAGILE-X SYNDROME - DYKENS,EM, HODAPP,RM, LECKMAN,JF
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2130001412 1995 JOURNAL OF MEDICAL GENETICS 32(2):153-153
WANG Q; GREEN EP; BOBROW M; MATHEW CG
SCREENING FOR THE FRAGILE-X A-MUTATION AND E-MUTATION BY AUTOMATED FLUORESCENT ANALYSIS
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2131001413 1995 JOURNAL OF MEDICAL GENETICS 32(2):153-153
BULLOCK S; LINDLEY VH; STEVENSON K; COLE T
MOLECULAR DNA TESTING OF A FAMILY MANIFESTING FRAGILE-X SYNDROME IN BOTH THE FRAX-A FULL MUTATION AND MOSAIC FORMS
00
2132001414 1995 JOURNAL OF MEDICAL GENETICS 32(2):154-154
BULLOCK S; FELIX CA; BUTTERWORTH MA; STEVENSON K; WILLIAMS D
THE USE OF MOLECULAR DNA TESTING TO DISTINGUISH BETWEEN MUTATIONS AT THE FRAGILE-X A-SITES AND E-SITES
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213336591423 1995 MEDICINA-BUENOS AIRES 55(5):457-466
BANARES VG
UPDATING THE FRAGILE-X SYNDROME
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2134001424 1995 MOLECULAR BIOLOGY OF THE CELL 6:1801-1801
TANEJA KL; NELSON D; SINGER RH
SPATIAL-DISTRIBUTION OF CGG REPEAT SEQUENCES IN NUCLEI OF FRAGILE-X PATIENT CELLS
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2135001428 1995 NEW SCIENTIST 147(1985):10-10
WEBB J
QUESTION MARK HANGS OVER FRAGILE-X TEST IN NEWBORNS
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213611141429 1995 NEW ZEALAND MEDICAL JOURNAL 108(1009):404-406
NEVILLE L; COCHRANE J; FITZGERALD P; KENNEDY M
FRAGILE-X MENTAL-RETARDATION SYNDROME - DNA DIAGNOSIS AND CARRIER DETECTION IN NEW-ZEALAND FAMILIES
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2137001432 1995 PEDIATRIC RESEARCH 38(3):431-431
DEVONDERWEID U; DAVI F; DECORTI C; CRAGNOLIN E; GLAVINA D
CONTINUOUS GASTRIC INFUSION OF GLUCOSE (CGG) IN THE PREVENTION OF HYPOGLYCEMIA IN LBW INFANTS
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213815191440 1996 ACTA BIOCHIMICA POLONICA 43(2):383-388
Milewski M; Zygulska M; Bal J; Deelen WH; Obersztyn E; et al.
Analysis of unstable DNA sequence in FRM1 gene in Polish families with fragile X syndrome
00
2139001447 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):1-1
Laing S; Robinson H; Wake S; Wright F; Turner G
Normal males and their role in transmission of the fragile x syndrome.
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2140001449 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):6-6
Maes B; Borghraef M; Fryns JP
Presentation of a fragile-X screening list.
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2141001450 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):14-14
Malzac P; Biancalana V; Voelckel MA; Moncla A; Pellissier MC; et al.
A rare example of a reverse mutation in a fragile X syndrome family.
00
2142001451 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):16-16
Murray A; Conway GS; Jacobs PA
Premature ovarian failure and fragile X.
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2143001452 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):17-17
Oostra BA; Willemsen R; Mandel JL; DeVries B; Devys D
Rapid screening test for fragile X syndrome.
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2144001453 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):18-18
Oostra B; DeGraaf E; Zhong N; Willemsen R
Instability of the CGG repeat and expression of FMR1 protein in a male patient with a lung tumor.
00
2145001454 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):19-19
Shen Y; Zhu N; Huang D; Wu GY
Studies on fragile X syndrome in the Chinese.
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2146001455 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):25-25
deVries BBA; vandenOuweland AMW; Mohkamsing S; Halley DJJ; Tibben A; et al.
Acceptance of screening for the fragile X syndrome among 1878 mentally retarded individuals in institutions and special schools in the Netherlands
00
214712201496 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):413-414
Loesch DZ
Fragile X: Clinical associations
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2148111498 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(3):527-527
Syrrou M; Patsalis PC; Georgiou I; Hadjimarcou MI; ConstantinouDeltas CD; et al.
Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus (vol 64, pg 234, 1996)
00
2149031499 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 65(4):355-356
Seemanova E
Fragile X syndrome in incestuous families
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2150111500 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 66(1):118-118
Perroni L; Grasso M; Argusti A; Nigro CL; Croci GF; et al.
Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families (vol 64, pg 176, 1996)
00
#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2151001502 1996 AMERICAN JOURNAL OF PATHOLOGY 149(5):G4-G4
Zehnbauer BA
Fragile X molecular detection in clinical referrals.
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2152001503 1996 AMERICAN JOURNAL OF PATHOLOGY 149(5):G5-G5
Larsen LA; NorgaardPedersen B; Vuust J
Analysis of fragile X CGG repeats in the normal range by PCR amplification and automated capillary electrophoresis.
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2153001504 1996 AMERICAN JOURNAL OF PATHOLOGY 149(5):G6-G6
Pandya A; FerreiraGonzalez A; JacksonCook C; Ware JL; Garrett CT
Evaluation of fragile X CCG locus using PCR and a fluorescent automated DNA sequencer.
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2154111507 1996 ARCHIVES OF DISEASE IN CHILDHOOD 74(1):88-88
Magnay D; Morritt J; Waterston T
Fragile X syndrome
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2155011508 1996 ARCHIVES OF MEDICAL RESEARCH 27(3):427-427
DiazGallardo
Molecular characterization of the fragile-x syndrome in the Mexican population (vol 26, pg S77, 1995)
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2156001512 1996 BIOLOGICALS 24(3):210-210
Chehab FF; Wall J; Cai SP
Lessons derived from the clinical molecular diagnosis of cystic fibrosis, thalassaemia, Fragile X and Huntington's disease
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2157001513 1996 BIOPHYSICAL JOURNAL 70(2):SU496-SU496
Chen X; Mariappan SVS; Ratliff R; Moyzis RK; Smith SS; et al.
The formation and methylation of the ''slippage structures'' in vitro: The molecular basis of the fragile-X syndrome
00
2158011514 1996 BRITISH JOURNAL OF DEVELOPMENTAL PSYCHOLOGY 14:247-248
Happe F
Behavior and development in fragile X syndrome - Dykens,EM, Hodapp,RM, Leckman,JF
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2159131518 1996 CHINESE SCIENCE BULLETIN 41(5):436-437
Huang T; Shen Y; Fan Y; Wu GY
Expression of two alternative splicing isoforms of fragile X gene in human placenta
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2160001519 1996 CIRCULATION 94(8):534-534
Helbecque N; Dallongeville J; Arveiler D; Cambou JP; Evans A; et al.
Relationship between VLDL receptor gene (CGG) repeat polymorphism and plasma apo E containing lipoparticles levels in a sample of European Caucasian men
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2161001520 1996 CLINICAL CHEMISTRY 42(6):441-441
Tsongalis GJ; Hodges KA; Adkins S; Silverman LM
Chemiluminescent detection of the CGG trinucleotide repeat expansion in fragile X syndrome.
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2162001521 1996 CLINICAL CHEMISTRY 42(11):7-7
Hamdan H; Bailey A; Martinez JJ; Fenwick R; Leon JA
Improved amplification and automated detection of trinucleotide repeats in the diagnosis of fragile X syndrome.
00
2163011525 1996 CONTEMPORARY PSYCHOLOGY 41(5):488-489
McGraw KO
Behavior and development in fragile X syndrome - Dykens,EM, Hodapp,RM, Leckman,JF
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216421441529 1996 EUROPEAN PSYCHIATRY 11(5):227-232
Barbe B; Franke P; Maier W; Leboyer M
Fragile X syndrome .1. An overview on its genetic mechanism
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2165001531 1996 FASEB JOURNAL 10(6):D30-D30
Kramer PR; Pearson CE; Sinden RR
Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines.
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2166041532 1996 GENETIC COUNSELING 7(3):227-230
Fryns JP; DHooghe M; Devriendt K
Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene
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21677141533 1996 GENETIC COUNSELING 7(4):245-247
Fryns JP
Ovarian function in fragile X carriers
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216840621534 1996 GIORNALE DI NEUROPSICHIATRIA DELL ETA EVOLUTIVA 16(2):147-154
Veneselli E; Biancheri R; Perrone MV
Neuropsychiatric aspects in the fragile X syndrome
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2169241544 1996 INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS 52(2):209-210
[Anon]
Fragile X syndrome
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2170001549 1996 JOURNAL OF INVESTIGATIVE MEDICINE 44(1):A119-A119
Merenstein SA; Sobesky WE; Taylor AK; Tran HX; Riddle JE; et al.
Molecular clinical correlations in males with fragile X syndrome.
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2171001554 1996 JOURNAL OF NEUROCHEMISTRY 67:S34-S34
Chen TA; Lu XF; Yi YH; Ho WKK
Analysis of a CGG sequence at the FMR-1 locus in fragile X site by PCR-DGGE method.
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2172001555 1996 JOURNAL OF NEUROCHEMISTRY 67:S36-S36
Chen TA; Lu XF; Ilo WKK; Yi YH; Chen SQ; et al.
Variation of the CGG repeat in FMR-1 gene in non retarded Chinese population and fragile X syndrome patients
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2173001568 1996 PEDIATRIC RESEARCH 39(2):371-371
Torrado M; Herrera J; Chertkoff L; Tenembaum S; Bin L; et al.
Diagnosis value of a pediatric clinical score for the diagnosis of the Fragile X Syndrome
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217424491574 1996 REVISTA MEDICA DE CHILE 124(7):865-872
Jara L; Avendano I; Aspillaga M; Blanco R
Molecular and genetic features of fragile X syndrome. A review
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217518331577 1996 VARIATION IN THE HUMAN GENOME 197:119-126
Sutherland GR; Richards RI
Unusual inheritance patterns due to dynamic mutation in fragile X syndrome
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21765201578 1996 VARIATION IN THE HUMAN GENOME 197:126-136
Weiss KM; Sutherland GR; Harper PS; Bodmer W; Bowcock AM; et al.
Unusual inheritance patterns due to dynamic mutation in fragile X syndrome - Discussion
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2177011579 1997 A N A E-APPROCHE NEUROPSYCHOLOGIQUE DES APPRENTISSAGES CHEZ L ENFANT 9(5):191-192
Fombonne E
The fragile X syndrome
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217814251580 1997 A N A E-APPROCHE NEUROPSYCHOLOGIQUE DES APPRENTISSAGES CHEZ L ENFANT 9(5):195-201
Mandel JL
The fragile X mental retardation syndrome: the FMR1 gene and its mutations
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217913241581 1997 A N A E-APPROCHE NEUROPSYCHOLOGIQUE DES APPRENTISSAGES CHEZ L ENFANT 9(5):202-208
Hagerman RJ
Fragile X syndrome: meeting the challenges of diagnosis and care
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218012161582 1997 A N A E-APPROCHE NEUROPSYCHOLOGIQUE DES APPRENTISSAGES CHEZ L ENFANT 9(5):209-212
Fombonne E
Epidemiological studies of fragile X syndrome
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2181891583 1997 A N A E-APPROCHE NEUROPSYCHOLOGIQUE DES APPRENTISSAGES CHEZ L ENFANT 9(5):221-223
Ponsot G
Fragile X syndrome. Early recognition.
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2182691584 1997 A N A E-APPROCHE NEUROPSYCHOLOGIQUE DES APPRENTISSAGES CHEZ L ENFANT 9(5):224-226
Gerard CL; Guillotte E; Servel F; Barbeau M
Assessment and remediation of communication disorders in children with fragile X syndrome
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21833101585 1997 A N A E-APPROCHE NEUROPSYCHOLOGIQUE DES APPRENTISSAGES CHEZ L ENFANT 9(5):227-231
Roge B
Fragile X syndrome. Special education: the French context
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218413271586 1997 A N A E-APPROCHE NEUROPSYCHOLOGIQUE DES APPRENTISSAGES CHEZ L ENFANT 9(5):232-238
Turk J
Treatments and services for individuals with fragile X syndrome and their families
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2185001589 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A6-A6
Fisch GS; Holden JJA; Chalifoux M; Carpenter NJ; Howard-Peebles PN; et al.
Natural history of cognitive and adaptive behavior in young fragile X males and females: A 6-year prospective multicenter study.
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2186001590 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A6-A6
Kenneson A; Cramer DW; Warren ST
The fragile X premutation is not a major risk for early menopause.
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2187001591 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A8-A8
Toth-Fejel S; Gunter K; McMilin K; Reifsteck C; Chen XN; et al.
High rate of chromosome 11 structural mosaicism in chromosome 11 terminal deletions: fragile site expression and CGG repeat expansion at FRA11B as a genetic mechanism.
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2188001592 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A26-A26
Brown VL; Small K; Lakkis L; Wilkinson KD; Warren ST
Purification and characterization of the fragile X mental retardation protein.
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2189001593 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A26-A26
Corbin F; Bouillon M; Rousseau F; Khandjian EW
The fragile-X mental retardation protein is a mRNA chaperone associated with translating complexes.
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2190001595 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A33-A33
Ju W; Xu WM; Hwang YW; Brown WT; Zhong N
Molecular pathogenetic studies of the fragile X syndrome: Double knockouts of FMR1 and FXR1 affect early development of Xenopus oocytes.
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2191001596 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A100-A100
Hagerman RJ; Staley-Gane L; Linden MG; Tassone F; Hills J; et al.
A compound heterozygous female with fragile X syndrome.
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2192001597 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A109-A109
Perroni L; Grasso M; Garavelli L; Argusti A; Cavani S; et al.
Three cases of high functioning fragile X males
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2193001598 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A110-A110
Rhee LE; Hatcher SL; Robb KM; Towner DR
Fragile X syndrome associated with birth defects.
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2194001599 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A128-A128
Jenkins EC; Wen GY; Goldberg EM; Genovese M; Brown WT; et al.
Fragile X chromosome longitudinal sections studied by transmission electron microscopy.
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2195001600 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A160-A160
Paradee W; Rasmussen D; Melikian H; Conn PJ; Warren ST
Hippocampus-independent deficits in the Fragile X mouse.
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2196001601 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A160-A160
Osthus RC; DiMaio MS; Mahoney MJ; Bale AE
Significance of borderline fragile X premutations.
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2197001602 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A170-A170
Feng Y; Absher D; Brown V; Eberhart DE; Malter HE; et al.
FMRP associates with polyribosomes as an mRNP and the I304N mutation causing severe fragile X syndrome abolishes this association.
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2198001603 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A175-A175
Kaufmann WE; Abrams MT; Chen W; Reiss AL
Genotype and molecular phenotype in fragile X syndrome.
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2199001604 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A177-A177
Mangel L; Ternes T; Schmitz B; Doerfler W
Characterization of new 5 '-(CGG)(n)-3 ' trinucleotide repeat-containing loci in the human genome.
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2200001605 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A182-A182
Sandberg G; Schalling M
Detection of methylated CpG sequences in the FMR-1 promoter using the sodium bisulfite method and expression studies after in vitro methylation and CGG repeat insert.
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2201001606 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A192-A192
Staley-Gane L; Holloway SL; Flynn L; Logan L; Hageman RJ
Assessment of patient agenda prior to genetic counseling for fragile X syndrome.
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2202001607 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A219-A219
de Vries BBA; van den Ouweland AMW; Mohkamsing S; Duivenvoorden HJ; Halley DJJ; et al.
A fragile X screening program in The Netherlands: prevalence of fragile X syndrome lower than previously considered, but the disorder is still underdiagnosed.
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2203001608 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A303-A303
Ashley AE; Robinson H; Glicksman AE; Nolin SL; Schwartz C; et al.
Identification of risk factors associated with instability of the FMR1 CGG repeat.
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2204001609 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A304-A304
Bat O; Kimmel M; Axelrod DE; Chakraborty R
Computer simulation of expansions of DNA triplet repeats in the fragile X syndrome and Huntington's disease.
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2205001611 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A313-A313
Layman LC; Moffitt DV; McDonough PG; Song M; Shamoun D; et al.
Correlation and vertical transmission of fragile X syndrome and ovarian failure within a single family.
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2206001614 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A324-A324
Zhong N; Ju W; Xu WM; Liu B; Dobkin C; et al.
Molecular pathogenetic studies of the fragile X syndrome: A candidate transcript targeted by the fragile X protein FMRP.
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2207001615 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A330-A330
Das S; Kubota T; Song M; Daniel R; Berry-Kravis EM; et al.
Methylation analysis of the fragile X syndrome by PCR.
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2208001616 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A389-A389
Ye LL; Ju W; Xu WM; Schupf N; Jenkins EC; et al.
Distribution of apolipoprotein E genotypes in the fragile X syndrome, Batten disease, and Down syndrome populations.
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2209001617 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A407-A407
Sucharov CC; Varandas FR; Rondinelli E; Carakushansky G; Moura-Neto RS
Establishment of a differential diagnostic of patients with Mental Retardation based on Southern-blot and PCR considering the frequency of Fragile X trinucleotide repeats from normal population in Rio de Janeiro, Brazil.
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2210001618 1997 AMERICAN JOURNAL OF HUMAN GENETICS 61(4):A407-A407
Taylor AK; Tassone F; Staley-Gane L; Hagerman RJ
Identical premutation size in multiple tissues of a male fragile X carrier.
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
221112391627 1997 AMERICAN JOURNAL OF MEDICAL GENETICS 74(2):167-171
Miezejeski CM; Heaney G; Belser R; Brown WT; Jenkins EC; et al.
Longer brainstem auditory evoked response latencies of individuals with fragile X syndrome related to sedation
00
2212001628 1997 AMERICAN JOURNAL OF MEDICAL GENETICS 74(6):568-568
Bleiweiss H; Pollini A; Goldemberg A; Schuarzberg C; Staszauer M; et al.
Treatment of patients with fragile X syndrome and psychiatric abnormalities.
00
2213001629 1997 AMERICAN JOURNAL OF PATHOLOGY 151(5):G3-G3
Shrimpton AE; Hicks K; Lamberson CM
Fragile X syndrome molecular detection.
00
22142151631 1997 ANNALES MEDICO-PSYCHOLOGIQUES 155(7):457-460
BillonGalland IO
The fragile X syndrome and its clinical psychotic expression
00
2215001632 1997 ANNALES MEDICO-PSYCHOLOGIQUES 155(7):460-460
Koupernik; Doutheau; Rapporteur
The fragile X syndrome and its clinical psychotic expression - Discussion
00
2216001635 1997 ARCHIVES DE PEDIATRIE 4(2):195-195
Mornet E
Fragile X syndrome - Response
00
2217111636 1997 ARCHIVES DE PEDIATRIE 4(2):195-195
Beauvais P
Fragile X syndrome
00
2218111639 1997 ARCHIVES OF MEDICAL RESEARCH 28(1):149-149
Rivera H
Fragile X studies and authorship (vol 27, pg 587, 1996)
00
2219001641 1997 BRITISH MEDICAL JOURNAL 315(7102):208-208
White C
Screening for fragile X is cost effective and accurate
00
2220001649 1997 CYTOGENETICS AND CELL GENETICS 77(1-2):P250-P250
Malarchuk S; Li S; Wertelecki W; Bychkova A; Livshits L
Analysis of patients with fragile X syndrome in Ukraine.
00
#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2221001650 1997 CYTOGENETICS AND CELL GENETICS 77(1-2):P287-P287
Tengstrom C; Ikonen A; Kaski M; Autio S
High resolution banding and fragile X - screening in persons with mild mental retardation.
00
2222111652 1997 DIAGNOSTIC MOLECULAR PATHOLOGY 6(5):304-304
Marini T; Pflueger S; Jackson A; Naber S; Karpells S; et al.
Five-year experience with Fragile X-testing - Setting laboratory standards of practice and a cost-effective protocol (vol 6, pg 161, 1997)
00
222327481655 1997 FOLIA HISTOCHEMICA ET CYTOBIOLOGICA 35(3):135-141
Szot M
The fragile X syndrome
00
2224001676 1997 JOURNAL OF MEDICAL GENETICS 34:SP69-SP69
Webb J; Murray A; Conway G; Jacobs P
Premature ovarian failure and fragile X
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2225001677 1997 JOURNAL OF MEDICAL GENETICS 34:505-505
Brady AF; Suri M; Emerson J; Bell J; Chotai K; et al.
Unusual X chromosome inactivation resulting in fragile X phenotype in a girl with a deletion on (X)(q26q27)
00
2226001678 1997 JOURNAL OF MEDICAL GENETICS 34:531-531
Cottrell S; Redmond E; McMahon C; Genet S; Barnicoat A
Two deletions causing reversal to normal phenotype in fragile X syndrome.
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2227001679 1997 JOURNAL OF MEDICAL GENETICS 34:539-539
Buckingham A; Bell JA; Payne SJ; Masters K; Emmerson J; et al.
Recurrence of Turner's syndrome in a fragile-X family
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2228001680 1997 JOURNAL OF MEDICAL GENETICS 34:541-541
Moore S; Dean JCS; Cole GF; Hamilton L; Kelly KF; et al.
Fragile X Syndrome resulting from a deletion of the FMR1 gene
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2229011684 1997 JOURNAL OF MEDICAL GENETICS 34(4):350-350
Taylor AK
FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male - Reply
00
2230001699 1997 NEUROLOGY 48(3):5062-5062
Mostofsky SH; Mazzocco MM; Aakalu G; Warsofsky IS; Denckla MB; et al.
Aberrant posterior vermis size in fragile X syndrome: Correlation with neurocognitive performance
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2231111714 1998 AMERICAN JOURNAL OF MEDICAL GENETICS 78(4):397-399
Ritchie RJ; Chakrabarti L; Knight SJL; Harding RM; Davies KE
Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28. (vol 73, pg 463, 1997)
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2232001716 1998 AMERICAN JOURNAL OF MEDICAL GENETICS 81(6):452-453
Oostra BA
Fragile X syndrome is caused by a fragile gene.
00
2233001717 1998 AMERICAN JOURNAL OF MEDICAL GENETICS 81(6):552-552
von Gontard A; Backes M; Schreck J; Genc B; Doerfler W
Behavioural phenotype of the fragile-X-syndrome.
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2234001718 1998 AMERICAN JOURNAL OF PATHOLOGY 153(5):1651-1651
Wages J; Bloch W; Burman R; Popovich B; Kruckeberg KE; et al.
Size accuracy in a fragile X size-polymorphism assay
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2235251721 1998 ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE 152(1):89-90
Tsuchiya KD; Forsythe M; Robin NH; Tunnessen WW
Picture of the month - Fragile X syndrome
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223614241722 1998 ARQUIVOS DE NEURO-PSIQUIATRIA 56(1):9-17
Felix TM; De Pina-Neto JM
Fragile X syndrome - Clinical and cytogenetic studies
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2237001724 1998 BIOPHYSICAL JOURNAL 74(2):A333-A333
Sinden RR; Pearson CE; Chastain PD; Potaman VN; Levene SD
Unusual helical properties and alternative structures of CTG and CGG repeats.
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2238021729 1998 CLINICAL GENETICS 54(4):365-365
Toro-Sola MA
Fragile X and Rett syndromes in Puerto Rico
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22398261733 1998 EPIGENETICS 214:280-290
Laird; Pillus; Hirst; Bestor; Jaenisch; et al.
Rules of DNA methylation in humans inferred from the fragile X gene, FMR1 - Final general discussion
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2240001734 1998 EUROPEAN JOURNAL OF HUMAN GENETICS 6:44-44
Tamanini F; van Unen L; Bontekoe C; Bakker; Willemsen R; et al.
Oligomerization and intracellular transport of the Fragile X Mental Retardation Protein
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2241001735 1998 EUROPEAN JOURNAL OF HUMAN GENETICS 6:63-63
Weinhausel A; Skarits C; Wolschek M; Haas OA
Diagnostic evaluation of the fragile X syndrome with methylation-sensitive PCR (MS-PCR)
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2242001736 1998 EUROPEAN JOURNAL OF HUMAN GENETICS 6:103-103
Syrrou M; Yapijakis C; Bouba I; Georgiou I; Patsalis PC; et al.
Intra-population variation of CAG and CGG trinucleotide repeats in X-linked androgen receptor and FMR-1 genes in the Hellenic population
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2243001737 1998 EUROPEAN JOURNAL OF HUMAN GENETICS 6:107-107
Peixoto A; Santos R; Seruca R; Amorim A; Castedo S
Haplotype analysis in fragile X and normal Portuguese populations
00
2244001738 1998 EUROPEAN JOURNAL OF HUMAN GENETICS 6:116-116
Duran M; Valverde L; Molina M; Onaindia ML; Tejada MI
Carrier screening for fragile X by PCR in females: comparison with obligated carriers
00
2245001739 1998 EUROPEAN JOURNAL OF HUMAN GENETICS 6:144-144
Patsalis P; Sismani C; Hettinger JA; Boumba I; Georgiou I; et al.
Population-based molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes: incidence, genetic variation and stability
00
2246001740 1998 EUROPEAN JOURNAL OF HUMAN GENETICS 6:159-159
Strelnikov V; Nemstova M; Demina N; Galkina V; Kuleshov N; et al.
DNA testing for fragile X syndrome
00
2247001742 1998 EUROPEAN JOURNAL OF NEUROSCIENCE 10:429-429
Castren M; Haapasalo AK; Oostra BE; Castren E
Subcellular localization of FMRP and its mutated form I304N in PC12 cells and rat hippocampal neurons
00
2248001743 1998 FASEB JOURNAL 12(8):A1322-A1322
Warren ST
The molecular basis of Fragile X syndrome
00
2249001749 1998 HUMAN GENETICS 103(3):366-366
Gronskov K; Brondum-Nielsen K
Regarding the letter from Dr. Stephen T. Warren of the Emory University School of Medicine concerning our article "Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations"
00
225050751770 1998 JOURNAL OF CLINICAL LIGAND ASSAY 21(4):424-431
Feldman GL; Monaghan KG
Fragile X syndrome: A review of the molecular and clinical features
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2251001771 1998 JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS 19(5):381-381
Taylor RJ; Scharfenaker S; O'Connor R; Lampe M; Kovach T; et al.
Severe language impairment in fragile X syndrome: Clinical correlates and treatment approaches
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2252001776 1998 JOURNAL OF INVESTIGATIVE MEDICINE 46(1):87A-87A
Miller LJ; McIntosh D; McGrath J; Shyu V; Lampe M; et al.
Electrodermal responses to sensory stimuli in individuals with fragile X sydrome.
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2253581780 1998 JOURNAL OF MEDICAL GENETICS 35(10):878-878
Jenkins T; Krause A
Molecular evidence that fragile X syndrome occurs in the South African black population
00
2254001787 1998 MOLECULAR BIOLOGY OF THE CELL 9:185A-185A
Lichtenstein H; Tartakoff A
Nuclear export of the Fragile X gene product, FMRP
00
2255111788 1998 MOLECULAR DIAGNOSIS 3(4):249-249
Hamdan H; Tynan JA; Fenwick RA; Leon JA
Automated detection of trinucleotide repeats in Fragile X syndrome (vol 2, pg 259, 1997)
00
2256001790 1998 NEUROLOGY 50(4):A86-A86
Mostofsky SH; Reiss AL; Freund L
Examination of posterior vermis size in young males with fragile X syndrome
00
225719331794 1998 OPTOMETRY AND VISION SCIENCE 75(12):856-859
Kranjc BS; Brezigar A; Peterlin B
Bilateral macular dysplasia in fragile X syndrome
00
2258711431798 1998 ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA 98(9):54-63
Vorsanova SG; Vekhova NV; Demidova IA; Yurov YB
Syndrome of mental retardation, linked with fragile X-chromosome: problems of diagnostics and inheritance
00
2259001801 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A29-A29
Ceman S; Brown V; Warren ST
Isolation of an FMRP-associated mRNP and the identification of nucleolin and the fragile X-related proteins as components of the complex.
00
2260001802 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A30-A30
Peier AM; McIlwain KL; Paylor R; Nelson DL
FMR1 YAC transgenic mice: rescue of the FMRl knockout mouse and behavior of the CGG trinucleotide repeat.
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#LCRNCRNodes / Date / Journal / AuthorsLCSGCS
2261001803 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A49-A49
Drasinover V; Ehrlich S; Magal N; Taub E; Libman V; et al.
Increased transmission of the premutated allele compared to the normal allele in female carriers of the fragile X syndrome.
00
2262001804 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A68-A68
Fisch GS; Howard-Peebles PN; Carpenter N; Tarleton J; Simensen R; et al.
Age-related features of genetic mutations producing cognitive impairment: the Fragile X mutation, NF1, and Williams Syndrome.
00
2263001805 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A103-A103
Brown WT; Rabe A; Durnas R; Haubenstock H; Dobkin C
FMR1 knockout mouse shows a strain-specific severe learning impairment: A robust model for the fragile X syndrome.
00
2264001806 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A105-A105
Kenneson A; Hagedorn CH; Warren ST
Quantitative studies of the fragile X mental retardation 1 (FMR1) gene product, FMRP.
00
2265001807 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A145-A145
Chernoff EJ; Nunes M; White B; McClellan J; Coll E; et al.
Fragile X premutation status in a male with mental retardation.
00
2266001808 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A165-A165
Iqbal MA; Sakati N; Nester A; Ozand P
Cytogenetic diagnosis of fragile X syndrome a study of 305 suspected cases in Saudi Arabia.
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2267001809 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A214-A214
Falik-Zaccai TC; Shachak E; Borochowitz Z; Magal N; Zatz S; et al.
Fragile X syndrome: Population carrier screening and implication for prenatal diagnosis.
00
2268001810 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A263-A263
Absher DM; Warren SR
Functional studies of mammalian FMRP in yeast.
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2269001811 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A266-A266
Burman RW; Popovich BW; Yates PA; Jacky PB; Schnell JL; et al.
Fully expanded fragile X CGG repeats exhibit a length-and differentiation-dependent instability in cell hybrids that is independent of DNA methylation.
00
2270001812 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A268-A268
Crawford DC; Schwartz CE; Warren ST; Sherman SL
Novel repeat structures identified in African-Americans represent a new mechanism leading to fragile X CGG repeat instability.
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2271001814 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A270-A270
El-Hazmi MF
Fragile X mental retardation in syndrome in Saudi Arabia.
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2272001815 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A279-A279
Larsen LA; Armstrong JSM; Gronskov K; Hjalgrim H; Macpherson J; et al.
Haplotype and AGG-interspersion analysis of FMR1(CGG)(n) alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles
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2273001817 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A464-A464
Nolin SL; Houck GE; Gargano AD; Li SY; Glicksman A; et al.
Instability of FMR1 alleles with 40-60 CGG repeats.
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2274001818 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A471-A471
Ventura KA; Fraer LM; Smith EE; Merrill AE; Treat KJ; et al.
Transmission on a fragile X full mutation through a normal transmitting male.
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2275001819 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A474-A474
Lazarou LP; Warburton S; Roberts CE; Lindley VH; Bartlett S; et al.
Fragile X syndrome carrier females with full mutations inherited from a normal transmitting male.
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2276001820 1999 AMERICAN JOURNAL OF HUMAN GENETICS 65(4):A493-A493
Tassone F; Hagerman RJ; Taylor AK; Mills JB; Wood S; et al.
FMR1 mRNA expression levels in fragile X.
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22774131831 1999 AMERICAN JOURNAL OF MEDICAL GENETICS 83(4):296-297
Ferri R; Del Gracco S; Elia M; Musumeci SA; Pettinato S
Heart rate variability and autonomic function during sleep in fragile X syndrome
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22783131863 1999 AMERICAN JOURNAL OF MEDICAL GENETICS 84(3):309-310
Zhong N; Ju WN; Brown WT; Ye LL; Jenkins EC; et al.
Distribution of apolipoprotein E genotypes in fragile X syndrome and Batten disease
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2279001872 1999 ARCHIVES OF CLINICAL NEUROPSYCHOLOGY 14(8):767-767
Lesniak-Karpiak K; Mazzocco MM; Lanham DC; Denckla MB
Behavioral assessment of social skills in children with Turner syndrome or Fragile X.
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228010181874 1999 AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY 33(3):436-440
Al-Semaan Y; Malla AK; Lazosky A
Schizoaffective disorder in a fragile-X carrier
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2281001877 1999 BLOOD 94(10):94A-94A
Warren TL; Dahle CE; Buikema BS; Weiner GJ
Immunotherapy of lymphoma using CgG oligodeoxynucleotides.
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2282001883 1999 CYTOGENETICS AND CELL GENETICS 85(1-2):137-138
Arrieta I; Criado B; Martinez B; Telez M; Fiores P; et al.
Molecular and cytogenetic analysis of the fragile X syndrome in a sample from Basque Country: are the Basques a population with a low risk of developing the syndrome?
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2283001884 1999 CYTOGENETICS AND CELL GENETICS 85(1-2):165-165
Sofocleous C; Mavrou A; Fryssira H; Kolialexi A; Tsenghi C; et al.
FMRP (Fragile X Mental Retardation Protein) studies in mentally retarded children in Greece
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2284001885 1999 CYTOGENETICS AND CELL GENETICS 85(1-2):167-167
Tayel SM; Al-Naggar RL; Ali FE; Al-Awadi SA
Two-step fragile X screening program in mentally retarded males
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2285001893 1999 FASEB JOURNAL 13(5):A703-A703
Greenough WT; Weiler IJ; Angenstein F; Klintsova A; Bauchwitz R
Synthesis of the fragile X mental retardation protein at synapses: Possible role in synaptic development and plasticity
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2286001903 1999 HUMAN REPRODUCTION 14:235-235
Sermon K; Seneca S; Lissens W; De Vos A; Vandervorst M; et al.
Preimplantation genetic diagnosis for fragile-X syndrome
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22871451909 1999 JOURNAL OF EARLY INTERVENTION 22(2):137-151
Jackson SC; Roberts JE
Family and professional congruence in communication assessments of preschool boys with fragile X syndrome
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2288001913 1999 JOURNAL OF MEDICAL GENETICS 36:S64-S64
Lazarau L; Warburton SA; Roberts CE; Hughes HE; Bartlett S; et al.
Fragile X syndrome carrier females with full mutations inherited from a normal transmitting male
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2289001914 1999 JOURNAL OF MEDICAL GENETICS 36:S65-S65
Chotai K; Payne SJ
A fragile-X male mosaic for normal, premutation and full mutation FMR-1 alleles
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2290001917 1999 JOURNAL OF MEDICAL GENETICS 36(2):171-172
De Vries BBA; Halley DJJ; Oostra BA; Niermeijer MF
Fragile X syndrome: of POF and premutations
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2291451924 1999 MEDICAL JOURNAL OF AUSTRALIA 170(12):624-624
Cohen J; Loesch DZ
Fragile X syndrome: do professionals know about it?
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2292001928 1999 MOLECULAR PSYCHIATRY 4:S56-S56
Fisch GS; Carpenter N; Holden JA; Pandya A; Howard-Peebles PN; et al.
Psychopathology in genetic disorders producing cognitive deficits: Adaptive and maladative behavior in the fragile X syndrome, Williams syndrome and neurofibromatosis type 1.
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2293001944 2000 AMERICAN JOURNAL OF HUMAN GENETICS 67(4):25-25
Crawford DC; Wilson B; Sherman SL
Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool-PCR.
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2294001945 2000 AMERICAN JOURNAL OF HUMAN GENETICS 67(4):26-26
Hagerman RJ; Tassone F; Leehey M; Hills J; Wilson R; et al.
Cerebellar tremor and cerebellar cortical atrophy in older males with the fragile X premutation.
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2295001946 2000 AMERICAN JOURNAL OF HUMAN GENETICS 67(4):50-50
Neri G; Pomponi MG; Pietrobono R; Chiurazzi P; Oostra BA
Differential reactivation of the FMR1 gene in fragile X patients cell lines.
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2296001947 2000 AMERICAN JOURNAL OF HUMAN GENETICS 67(4):50-50
Kenneson A; Zhang F; Warren ST
Fragile X premutation alleles are associated with reduced FMRP levels due to a reduction of message translatability.
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Li MM; Nelson L; Bamshad M; Ward K
Fragile X mosaics in a family with multiple mildly affected individuals.
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Khalifa M; Struthers J
High frequency of Klinefelter syndrome among a large population of patients referred for Fragile X syndrome testing due to undiagnosed mental retardation.
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Harris SW; Brown KE; Hills JL; Tassone F; Hagerman PJ; et al.
Adaptive functioning and molecular relationships in individuals with fragile X syndrome.
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Tassone F; Hagerman RJ; Taylor AK; Hagerman PJ
Clinical and molecular correlations in individuals with a fragile X full mutation.
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Ceman SS; Kenneson A; Nelson R; Jin C; Lakkis L; et al.
Development and characterization of a unique set of anti-FMRP antibodies using a novel strategy.
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Mathews DJ; Hudson R; Eichier E; Chakravarti A
Sequence variation and linkage disequilibrium at the fragile X syndrome locus.
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2303001954 2000 AMERICAN JOURNAL OF HUMAN GENETICS 67(4):238-238
Sullivan AK; Crawford DC; Meadows KL; Wilson B; Sherman SL
Parent-child transmission of intermediate FMR1 CGG repeat alleles: Examination of factors associated with repeat instability.
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2304001955 2000 AMERICAN JOURNAL OF HUMAN GENETICS 67(4):247-247
Brown NM; Friez MJ; Longshore JW; Stenzel TT
Evaluation of an automated commercially available PCR kit for determination of Fragile X (FRAXA) normal, gray-zone and premutation allele sizes.
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Murphy KM; Nunes ME
Comparison of child-only versus mother/child sample collection in Fragile X testing.
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Methylation-sensitive PCR (MS-PCR) analysis of the fragile X (FRAXA) syndrome.
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Dyack S; Steele L; Koultchitski G; Yang Y; Weksberg R; et al.
AGG interruptions in the CGG trinucleotide repeat tract of the FMR1 gene may contribute to stability of Fragile X premutations.
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Chen SH; Xu B; Shoof JM; Buroker NE; Scott CR
Evidence for a stepwise expansion of the CGG repeats within the FMR1 gene.
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FMR1 CGG expansion to full mutation: What is the lower limit in premutation females?
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O'Donnell WT; Warren ST
Investigating the cause of macroorchidism in fragile X syndrome using oligonucleotide microarrays.
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2311001964 2000 AMERICAN JOURNAL OF HUMAN GENETICS 67(4):366-366
Parades WJ; Warren ST
Meiotic stability of a fragile X premutation CGG trinucleotide repeat in a mouse model.
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A clinical study of mentally retarded children with fragile X syndrome in Saudi Arabia
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Cytogenetic diagnosis of fragile X syndrome: Study of 305 suspected cases in Saudi Arabia
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Pregnancy outcome in carriers of fragile X
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Fragile X mental retardation protein interacts with TDG
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Lisik M
The comparison of anthropometric variables in mentally retarded boys with and without fragile X syndrome
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A fragile X case with an amplification/deletion mosaic pattern
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2327002024 2000 HUMAN REPRODUCTION 15:12-12
Apessos A; Harper J; Delhanty JDA
Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers
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Shorter reproductive life and a high risk for premature ovarian failure (POF) in women who have inherited fragile X premutations from their fathers
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2329122027 2000 HUMAN REPRODUCTION 15(8):1874-1874
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Regarding recall bias in the association between idiopathic premature ovarian failure and fragile X premutation
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2330002029 2000 INFANT MENTAL HEALTH JOURNAL 21(4-5):243-243
Lis A; Zennaro A; Pinto M; Peroni S; Snaidero R
Paternal styles identified with the self reflective scale and the CGG
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2331002030 2000 INFANT MENTAL HEALTH JOURNAL 21(4-5):330-330
Ghuman JK; Tierney E; Kau A; Reider E
Social interaction problems in infants and preschool children with fragile-X syndrome, Smith-Lemli-Opitz syndrome and other developmental disorders
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2332002035 2000 JOURNAL OF COGNITIVE NEUROSCIENCE :57-57
Merin NM; Menon V; White CD; Glover GH; Reiss AL
Gaze processing deficits in fragile X syndrome investigated using fMRI
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2333002036 2000 JOURNAL OF COGNITIVE NEUROSCIENCE :98-98
White CD; Menon V; Eliez S; Reiss AL
An fMRI study of brain activation in Fragile X Syndrome during a go-nogo task
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Functional neuroanatomy of visuospatial working memory in fragile X syndrome: Relation to behavior and FMR-1 protein expression
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Theory of mind deficits in mental retardation: a comparison of Down syndrome and fragile-X syndrome
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Progress fragile-X syndrome analysis
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2337002043 2000 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 44:247-247
Cornish KM; Munir F
Profile of memory and attention problems in adults with fragile-X syndrome: Clinical and educational implications
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2338002044 2000 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 44:273-273
Einfeld SL; Tonge B; Turner G; Parmenter T; Smith A
Longitudinal course of behavioural and emotional problems of young persons with Prader-Willi, fragile-X, Williams and Down syndromes
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2339002045 2000 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 44:305-305
Hagerman RJ; Miller LJ; McGrath-Clarke J; Riley K; Goldson E; et al.
Influence of stimulants on electrodermal studies in fragile-X syndrome
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Hills JL; Wilson R; Sobesky W; Harris SW; Grigsby J; et al.
Executive functioning deficits in adult males with the fragile-X premutation: an emerging phenotype
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Lung FW; Shu BC
Fragile-X syndrome in adolescent prostitutes
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Manjunatha KR; Chettn GK; Arathi R; Bhaskar RG; Nandini PM; et al.
Fragile-X syndrome: Cytogenetics and molecular analysis of subjects from Indian population
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2343002050 2000 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 44:405-405
Munir F; Comish KM; Wilding J
A neuropsychological profile of attention and hyperactivity in boys with fragile-X syndrome: Implications for clinical intervention
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2344002051 2000 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 44:419-419
Orsmond G; Abbeduto L; Pavetto M; O'Brien A; Kesin E; et al.
Stress and coping in parents of adolescents and young adults with fragile-X syndrome or Down syndrome
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Sabaratnam M; Murthy V; Wijeratne A
Fragile-X syndrome: A 10-year follow-up
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2346002053 2000 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 44:483-483
Tassone F; Hagerman RJ; Loesch DZ; Lachiewicz A; Taylor AK; et al.
FMRI messenger RNA levels in male subjects with fragile-X syndrome
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2347002054 2000 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 44:496-497
Tzeng CC; Lin SJ; Chen YY; Chen RM
An effective strategy of using a molecular test to screen individuals with mental retardation for fragile-X syndrome
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2348002055 2000 JOURNAL OF INVESTIGATIVE MEDICINE 48(1):11A-11A
Peterson TL; Hagerman RJ; Tassone F
Genotype-phenotype relationships in fragile X families.
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2349002056 2000 JOURNAL OF MEDICAL GENETICS 37:S18-S18
Mandel JL
The fragile X syndrome: from families to CGG expansions and FMR1 gene function
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2350002057 2000 JOURNAL OF MEDICAL GENETICS 37:S20-S20
Fisher A; Macpherson JN; Dennis NR; Barber JCK
Targeted testing for fragile X: an audit of the first year.
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James T; Trigg A; Lindley VH; Fews GA; Roberts E; et al.
An unexpected finding of fragile X (FRAXA) syndrome in a fetal blood sample referred for abnormalities on ultrasound scan
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Lazarou LP; Myring J; Knight SJL; Gardner AP; Clarke A
Fragile X (E) syndrome. How common is it?
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2353002060 2000 JOURNAL OF MEDICAL GENETICS 37:S75-S75
Fratter C; Morsman A; Seller A
Genetic analysis for Fragile X syndrome by fluorescent PCR
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2354002061 2000 JOURNAL OF MEDICAL GENETICS 37:S78-S78
Chotai K; Buckingham AE; Bentley CM; Wycherley RJ; Payne SJ
Fragile-X intermediate alleles - A clinical dilemma
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2355562065 2000 JOURNAL OF MOLECULAR DIAGNOSTICS 2(3):128-131
Daly TM; Rafii A; Martin RA; Zehnbauer BA
Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay
00
2356352067 2000 JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY 39(2):264-266
Eliez S; Reiss AL
Generics of childhood disorders: XI. Fragile X syndrome
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2357152068 2000 JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY 39(4):398-398
Levitas A
Fragile X syndrome
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2358052069 2000 JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY 39(4):398-399
Lombroso PJ
Fragile X syndrome - Dr. Lombroso replies
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235911172070 2000 JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION 99(5):402-407
Wang YC; Li C; Lin ML; Lin WH; Li SY
Molecular diagnosis of fragile X syndrome and distribution of CGG repeats in the FMR-1 gene in Taiwanese
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2360012071 2000 LIBRARY JOURNAL 125(11):105-105
Griffin KH
Children with Fragile X Syndrome: A parents' guide.
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de Vries BBA; Oostra BA
The fragile X syndrome: A model for mental retardation
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Block SS; Brusca-Vega R; Pizzi WJ; Berry-Kravis E; Maino DM; et al.
Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers
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23637102088 2000 PEDIATRIC HEMATOLOGY AND ONCOLOGY 17(7):597-600
Ferrari A; Meazza C; Casanova M
Nasopharyngeal carcinoma in a boy with fragile X syndrome
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2364152091 2000 REVISTA DE NEUROLOGIA 30(10):996-997
Serrano-Castro PJ; Serrano-Castillo P
A historical description of the association of macro-orchidea, mental retardation and cranial dysmorphia in males (fragile X chromosome syndrome) by A.B Richerand
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2365002093 2001 ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY 221:U3-U3
Rodesittisuk P; Romero RM; Haworth IS
Conformation of fragile X-associated triplet repeat DNA containing C-C mismatch pairs.
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2366002097 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):291-291
Thiele H; Peters H; Bahrke D; Hansmann I
Homozygosity for a premutation of the FMR1 gene and normal phenotype in two sisters from a family with fragile X syndrome.
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2367002098 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):352-352
Gantois I; Reyniers E; Kooy RF
Identification of genes differentially expressed in the fragile X syndrome.
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2368002099 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):372-372
Naumann F; Muller-Hartmann H; Deissler H; Doerfler W
Functional studies on the human 5 '-CGG-3 '-binding protein CGGBP1 (p20).
00
2369002100 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):372-372
Neri G; Pomponi MG; Pietrobono R; Chiurazzi P
Pharmacological reactivation of the FMR1 gene of the fragile X syndrome.
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2370002101 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):430-430
Jakupciak JP; O'Connell CD; Atha DA; Richie KL
Standardization of PCR amplification for fragile X trinucleotide repeat measurements.
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2371002102 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):431-431
Jenkins EC; Li SY; Yao XL; Lanter S; Sudhalter V; et al.
Detecting mosaic FMR-1 (fragile X) mutations: Southern blotting versus monoclonal antibody analysis.
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Patel ZM; Menon SR; D'souza AK; Adhia RA; Sanghavi DA; et al.
Validity of the analysis of FMRP expression in blood smears as a screening method for the fragile X syndrome in Indian population.
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2373002104 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):438-438
Zhou Y; Chong SS
Simplified molecular diagnostic testing for fragile X syndrome using methylation-specific PCR (ms-PCR).
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2374002105 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):554-554
Heine-Sur D; Pico G; Torres-Juan L; Bernues M; Iglesias J; et al.
A female with Fragile-X shows an affected male-like phenotype and skewed inactivation of the functional chromosome.
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2375002106 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):585-585
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Molecular analysis of a fragile X family with two females homozygous for a premutation.
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2376002107 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):586-586
Nolin SL; Houck GE; Gargano AD; Brown WT
Large fragile X premutatin alleles may often contain two AGG Interruptions.
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2377002108 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):635-635
Dobkin CS; Ding X; Brown WT; El Idrissi A
Reduced hippocampal GABAa receptors and increased kainic acid seizure susceptibility in the fragile X mouse.
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2378002109 2001 AMERICAN JOURNAL OF HUMAN GENETICS 69(4):667-667
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Prospective study of molecular fragile X syndrome prenatal diagnosis.
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Neuroanatomical effect of FMR1 gene mRNA in premutation carriers of Fragile X syndrome
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Berry-Kravis E
Characterization of epilepsy in fragile X syndrome
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Fragile X syndrome confirmed by molecular analysis: a case-control study with pre and post-puberal patients
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Melatonin profiles and sleep characteristics in boys with fragile X Syndrome: A preliminary study
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Down-regulation of CgG-induced B cell NF-kappa B, AP-1 and NF-IL-6 inhibitory oligonucleotides (ODN)
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A new rare allele at the CGG repeat polymorphism in the first intron of human c-H-ras gene
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Clinical and panoramic radiographic considerations of oral conditions in Fragile X Syndrome (Martin-Bell Syndrome)
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2389012169 2001 JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS 22(5):337-337
Floet AW
Children with fragile X syndrome: A parents' guide
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Kwon SH; Lee KS; Hyun MC; Song KE; Kim JK
Molecular screening for Fragile X syndrome in mentally handicapped children in Korea
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Moore C; Daly EM; Tassone F; Schmitz N; Hagerman P; et al.
Neuroanatomical effect of FMR1 gene mRNA in premutation carriers of Fragile X syndrome
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Daly E; Moore CJ; Schmitz N; Jacobs P; Davies K; et al.
Premutation expansion of CGG triplet repeats affects brain; a study of Male Carriers of Fragile X Syndrome
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2393002176 2001 JOURNAL OF MEDICAL GENETICS 38:S63-S63
Warburton S; Waters J; Davison V
Targeted diagnostic testing for fragile X syndrome
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2394002177 2001 JOURNAL OF MEDICAL GENETICS 38:S64-S64
Wakeling W; King W; Taylor R
Chemiluminescence detection offers a safe, effective and convenient alternative to radioisotopic labelling of probes for detection of Fragile X syndrome and other single gene disorders
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239511172181 2001 MEDICAL PRINCIPLES AND PRACTICE 10(2):73-78
Alkhalaf M; Verghese L; Mushtaq SK
Cytogenetic and immunohistochemical characterization of fragile X syndrome in a Kuwaiti family: Rapid antibody test for the diagnosis of mental retardation patients
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Trimethoprim in the fragile X syndrome?
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Moore CJ; Daly EM; Schmitz N; Murphy KC; Murphy DGM
Premutation expansion of CGG triplet repeats affects brain; a study of male carriers of Fragile X syndrome
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Glover G; Bernabe MJ; Carbonell P
Gnosis of fragile X syndrome
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New methods for the diagnosis of fragile X syndrome: A study of the FMRP in blood and hair
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Tejada MI
Prevention of fragile X syndrome by prenatal genetic diagnosis: Advantages and controversial aspects
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