AN EXTENSIVE DE-NOVO DELETION REMOVING FMR1 IN A PATIENT WITH MENTAL-RETARDATION AND THE FRAGILE X-SYNDROME PHENOTYPE

被引：62

作者：

TARLETON, J

RICHIE, R

SCHWARTZ, C

RAO, K

AYLSWORTH, AS

LACHIEWICZ, A

机构：

[1] GREENWOOD GENET CTR,MOLEC GENET & DNA DIAGNOST LAB,GREENWOOD,SC 29646

[2] SELF MEMORIAL HOSP,DEPT MED GENET,GREENWOOD,SC 29646

[3] UNIV N CAROLINA,DEPT PATHOL,CHAPEL HILL,NC 27599

[4] DUKE UNIV,MED CTR,DEPT PEDIAT,DURHAM,NC 27710

[5] UNIV N CAROLINA,DEPT PEDIAT,CHAPEL HILL,NC 27599

[6] UNIV N CAROLINA,BRAIN & DEV RES CTR,CHAPEL HILL,NC 27599

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 11期

关键词：

D O I：

10.1093/hmg/2.11.1973

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：

[No abstract available]

引用

页码：1973 / 1974

页数：2

共 16 条

[1] PHYSICAL MAPPING ACROSS THE FRAGILE-X - HYPERMETHYLATION AND CLINICAL EXPRESSION OF THE FRAGILE-X SYNDROME [J].

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HIRST, MC ;

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MACKINNON, RN ;

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JACOBS, PA ;

TOMMERUP, N ;

TRANEBJAERG, L ;

FROSTERISKENIUS, U ;

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TURNER, G ;

LINDENBAUM, RH ;

WINTER, R ;

PEMBREY, M ;

THIBODEAU, S ;

DAVIES, KE .

CELL, 1991, 64 (04) :861-866

[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] FINE-STRUCTURE OF THE HUMAN FMR1 GENE [J].

EICHLER, EE ;

RICHARDS, S ;

GIBBS, RA ;

NELSON, DL .

HUMAN MOLECULAR GENETICS, 1993, 2 (08) :1147-1153

[4] 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

[5] 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

[6] METHYLATION ANALYSIS OF CGG SITES IN THE CPG ISLAND OF THE HUMAN FMR1 GENE [J].

HANSEN, RS ;

GARTLER, SM ;

SCOTT, CR ;

CHEN, SH ;

LAIRD, CD .

HUMAN MOLECULAR GENETICS, 1992, 1 (08) :571-578

[7] INSTABILITY OF A 550 BASE PAIR DNA SEGMENT AND ABNORMAL METHYLATION IN FRAGILE X-SYNDROME [J].

OBERLE, I ;

ROUSSEAU, F ;

HEITZ, D ;

KRETZ, C ;

DEVYS, D ;

HANAUER, A ;

BOUE, J ;

BERTHEAS, MF ;

MANDEL, JL .

SCIENCE, 1991, 252 (5009) :1097-1102

[8] ABSENCE OF EXPRESSION OF THE FMR-1 GENE IN FRAGILE-X SYNDROME [J].

PIERETTI, M ;

ZHANG, FP ;

FU, YH ;

WARREN, ST ;

OOSTRA, BA ;

CASKEY, CT ;

NELSON, DL .

CELL, 1991, 66 (04) :817-822

[9] PHYSICAL MAP OF HUMAN XQ27-QTER - LOCALIZING THE REGION OF THE FRAGILE-X MUTATION [J].

POUSTKA, A ;

DIETRICH, A ;

LANGENSTEIN, G ;

TONIOLO, D ;

WARREN, ST ;

LEHRACH, H .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (19) :8302-8306

[10] DIRECT DIAGNOSIS BY DNA ANALYSIS OF THE FRAGILE X-SYNDROME OF MENTAL-RETARDATION [J].

ROUSSEAU, F ;

HEITZ, D ;

BIANCALANA, V ;

BLUMENFELD, S ;

KRETZ, C ;

BOUE, J ;

TOMMERUP, N ;

VANDERHAGEN, C ;

DELOZIERBLANCHET, C ;

CROQUETTE, MF ;

GILGENKRANTZ, S ;

JALBERT, P ;

VOELCKEL, MA ;

OBERLE, I ;

MANDEL, JL .

NEW ENGLAND JOURNAL OF MEDICINE, 1991, 325 (24) :1673-1681

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