A DE-NOVO DELETION IN FMR1 IN A PATIENT WITH DEVELOPMENTAL DELAY

被引:44
作者
GU, YH
LUGENBEEL, KA
VOCKLEY, JG
GRODY, WW
NELSON, DL
机构
[1] BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET,HOUSTON,TX 77030
[2] UNIV CALIF LOS ANGELES,SCH MED,DIV MED GENET,LOS ANGELES,CA 90024
[3] UNIV CALIF LOS ANGELES,SCH MED,DIV MOLEC PATHOL,LOS ANGELES,CA 90024
关键词
D O I
10.1093/hmg/3.9.1705
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:1705 / 1706
页数:2
相关论文
共 12 条
[1]   GERMLINE MOSAICISM AND DUCHENNE MUSCULAR-DYSTROPHY MUTATIONS [J].
BAKKER, E ;
VAN BROECKHOVEN, C ;
BONTEN, EJ ;
VANDEVOOREN, MJ ;
VEENEMA, H ;
VANHUL, W ;
VANOMMEN, GJB ;
VANDENBERGHE, A ;
PEARSON, PL .
NATURE, 1987, 329 (6139) :554-556
[2]   A POINT MUTATION IN THE FMR-1 GENE ASSOCIATED WITH FRAGILE-X MENTAL-RETARDATION [J].
DEBOULLE, K ;
VERKERK, AJMH ;
REYNIERS, E ;
VITS, L ;
HENDRICKX, J ;
VANROY, B ;
VANDENBOS, F ;
DEGRAAFF, E ;
OOSTRA, BA ;
WILLEMS, PJ .
NATURE GENETICS, 1993, 3 (01) :31-35
[3]   THE FMR-1 PROTEIN IS CYTOPLASMIC, MOST ABUNDANT IN NEURONS AND APPEARS NORMAL IN CARRIERS OF A FRAGILE X PREMUTATION [J].
DEVYS, D ;
LUTZ, Y ;
ROUYER, N ;
BELLOCQ, JP ;
MANDEL, JL .
NATURE GENETICS, 1993, 4 (04) :335-340
[4]   FINE-STRUCTURE OF THE HUMAN FMR1 GENE [J].
EICHLER, EE ;
RICHARDS, S ;
GIBBS, RA ;
NELSON, DL .
HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1147-1153
[5]   VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX [J].
FU, YH ;
KUHL, DPA ;
PIZZUTI, A ;
PIERETTI, M ;
SUTCLIFFE, JS ;
RICHARDS, S ;
VERKERK, AJMH ;
HOLDEN, JJA ;
FENWICK, RG ;
WARREN, ST ;
OOSTRA, BA ;
NELSON, DL ;
CASKEY, CT .
CELL, 1991, 67 (06) :1047-1058
[6]   FRAGILE-X SYNDROME WITHOUT CCG AMPLIFICATION HAS AN FMR1 DELETION [J].
GEDEON, AK ;
BAKER, E ;
ROBINSON, H ;
PARTINGTON, MW ;
GROSS, B ;
MANCA, A ;
KORN, B ;
POUSTKA, A ;
YU, S ;
SUTHERLAND, GR ;
MULLEY, JC .
NATURE GENETICS, 1992, 1 (05) :341-344
[7]  
MEIJER H, 1994, HUM MOL GENET, V3, P615
[8]   CHARACTERIZATION OF A HIGHLY POLYMORPHIC DINUCLEOTIDE REPEAT 150-KB PROXIMAL TO THE FRAGILE-X SITE [J].
RIGGINS, GJ ;
SHERMAN, SL ;
OOSTRA, BA ;
SUTCLIFFE, JS ;
FEITELL, D ;
NELSON, DL ;
VANOOST, BA ;
SMITS, APT ;
RAMOS, FJ ;
PFENDNER, E ;
KUHL, DPA ;
CASKEY, CT ;
WARREN, ST .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (1-2) :237-243
[9]   AN EXTENSIVE DE-NOVO DELETION REMOVING FMR1 IN A PATIENT WITH MENTAL-RETARDATION AND THE FRAGILE X-SYNDROME PHENOTYPE [J].
TARLETON, J ;
RICHIE, R ;
SCHWARTZ, C ;
RAO, K ;
AYLSWORTH, AS ;
LACHIEWICZ, A .
HUMAN MOLECULAR GENETICS, 1993, 2 (11) :1973-1974
[10]   IDENTIFICATION OF A GENE (FMR-1) CONTAINING A CGG REPEAT COINCIDENT WITH A BREAKPOINT CLUSTER REGION EXHIBITING LENGTH VARIATION IN FRAGILE-X SYNDROME [J].
VERKERK, AJMH ;
PIERETTI, M ;
SUTCLIFFE, JS ;
FU, YH ;
KUHL, DPA ;
PIZZUTI, A ;
REINER, O ;
RICHARDS, S ;
VICTORIA, MF ;
ZHANG, FP ;
EUSSEN, BE ;
VANOMMEN, GJB ;
BLONDEN, LAJ ;
RIGGINS, GJ ;
CHASTAIN, JL ;
KUNST, CB ;
GALJAARD, H ;
CASKEY, CT ;
NELSON, DL ;
OOSTRA, BA ;
WARREN, ST .
CELL, 1991, 65 (05) :905-914