SIXTH INTERNATIONAL WORKSHOP ON THE FRAGILE-X AND X-LINKED MENTAL-RETARDATION

被引：4

作者：

SUTHERLAND, GR

BROWN, WT

HAGERMAN, R

JENKINS, E

LUBS, H

MANDEL, JL

NELSON, D

NERI, G

PARTINGTON, MW

RICHARDS, RI

STEVENSON, R

TURNER, G

机构：

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 51卷 / 04期

关键词：

D O I：

10.1002/ajmg.1320510402

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：281 / 293

页数：13

共 24 条

[1] FMR1 PROTEIN - CONSERVED RNP FAMILY DOMAINS AND SELECTIVE RNA-BINDING
ASHLEY, CT
WILKINSON, KD
REINES, D
WARREN, ST
[J]. SCIENCE, 1993, 262 (5133) : 563 - 566
[2] RAPID FRAGILE-X CARRIER SCREENING AND PRENATAL-DIAGNOSIS USING A NONRADIOACTIVE PCR TEST
BROWN, WT
HOUCK, GE
JEZIOROWSKA, A
LEVINSON, FN
DING, XH
DOBKIN, C
ZHONG, N
HENDERSON, J
BROOKS, SS
JENKINS, EC
[J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1993, 270 (13): : 1569 - 1575
[3] A POINT MUTATION IN THE FMR-1 GENE ASSOCIATED WITH FRAGILE-X MENTAL-RETARDATION
DEBOULLE, K
VERKERK, AJMH
REYNIERS, E
VITS, L
HENDRICKX, J
VANROY, B
VANDENBOS, F
DEGRAAFF, E
OOSTRA, BA
WILLEMS, PJ
[J]. NATURE GENETICS, 1993, 3 (01) : 31 - 35
[4] ANALYSIS OF FULL FRAGILE-X MUTATIONS IN FETAL TISSUES AND MONOZYGOTIC TWINS INDICATE THAT ABNORMAL METHYLATION AND SOMATIC HETEROGENEITY ARE ESTABLISHED EARLY IN DEVELOPMENT
DEVYS, D
BIANCALANA, V
ROUSSEAU, F
BOUE, J
MANDEL, JL
OBERLE, I
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (1-2): : 208 - 216
[5] THE FMR-1 PROTEIN IS CYTOPLASMIC, MOST ABUNDANT IN NEURONS AND APPEARS NORMAL IN CARRIERS OF A FRAGILE X PREMUTATION
DEVYS, D
LUTZ, Y
ROUYER, N
BELLOCQ, JP
MANDEL, JL
[J]. NATURE GENETICS, 1993, 4 (04) : 335 - 340
[6] FINE-STRUCTURE OF THE HUMAN FMR1 GENE
EICHLER, EE
RICHARDS, S
GIBBS, RA
NELSON, DL
[J]. HUMAN MOLECULAR GENETICS, 1993, 2 (08) : 1147 - 1153
[7] VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX
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
[J]. CELL, 1991, 67 (06) : 1047 - 1058
[8] FRAGILE-X SYNDROME WITHOUT CCG AMPLIFICATION HAS AN FMR1 DELETION
GEDEON, AK
BAKER, E
ROBINSON, H
PARTINGTON, MW
GROSS, B
MANCA, A
KORN, B
POUSTKA, A
YU, S
SUTHERLAND, GR
MULLEY, JC
[J]. NATURE GENETICS, 1992, 1 (05) : 341 - 344
[9] KH DOMAINS WITHIN THE FMR1 SEQUENCE SUGGEST THAT FRAGILE-X SYNDROME STEMS FROM A DEFECT IN RNA-METABOLISM
GIBSON, TJ
RICE, PM
THOMPSON, JD
HERINGA, J
[J]. TRENDS IN BIOCHEMICAL SCIENCES, 1993, 18 (09) : 331 - 333
[10] TISSUE SPECIFIC EXPRESSION OF FMR-1 PROVIDES EVIDENCE FOR A FUNCTIONAL-ROLE IN FRAGILE-X SYNDROME
HINDS, HL
ASHLEY, CT
SUTCLIFFE, JS
NELSON, DL
WARREN, ST
HOUSMAN, DE
SCHALLING, M
[J]. NATURE GENETICS, 1993, 3 (01) : 36 - 43

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