Mutation analysis of H19 and NAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome

被引：12

作者：

Catchpoole, D

Smallwood, AV

Joyce, JA

Murrell, A

Lam, W

Tang, T

Munroe, D

Reik, W

Schofield, PN

Maher, ER ^{[1
]}

机构：

[1] Univ Birmingham, Dept Paediat & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

[2] Univ Cambridge, Dept Pathol, Cambridge CB2 1QP, England

[3] Univ Cambridge, Dept Anat, Lab Stem Cell Biol, Cambridge, England

[4] Babraham Inst, Lab Dev Genet & Imprinting, Cambridge, England

[5] Genos Biosci, La Jolla, CA 92037 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 03期

关键词：

D O I：

10.1136/jmg.37.3.212

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：212 / 215

页数：4

共 36 条

[1] THE PRODUCT OF THE H19 GENE MAY FUNCTION AS AN RNA
BRANNAN, CI
DEES, EC
INGRAM, RS
TILGHMAN, SM
[J]. MOLECULAR AND CELLULAR BIOLOGY, 1990, 10 (01) : 28 - 36
[2] Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
Brown, KW
Villar, AJ
Bickmore, W
ClaytonSmith, J
Catchpoole, D
Maher, ER
Reik, W
[J]. HUMAN MOLECULAR GENETICS, 1996, 5 (12) : 2027 - 2032
[3] Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster
Caspary, T
Cleary, MA
Baker, CC
Guan, XJ
Tilghman, SM
[J]. MOLECULAR AND CELLULAR BIOLOGY, 1998, 18 (06) : 3466 - 3474
[4] Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome
Catchpoole, D
Lam, WWK
Valler, D
Temple, IK
Joyce, JA
Reik, W
Schofield, PN
Maher, ER
[J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (05) : 353 - 359
[5] Novel transcribed sequences within the BWS/WT2 region in 11p15.5: Tissue-specific expression correlates with cancer type
Crider-Miller, SJ
Reid, LH
Higgins, MJ
Nowak, NJ
Shows, TB
Futreal, PA
Weissman, BE
[J]. GENOMICS, 1997, 46 (03) : 355 - 363
[6] EKSBERG R, 1993, NAT GENET, V5, P143
[7] BECKWITH-WIEDEMANN SYNDROME
ELLIOTT, M
MAHER, ER
[J]. JOURNAL OF MEDICAL GENETICS, 1994, 31 (07) : 560 - 564
[8] Genomic imprinting: A chromatin connection
Feil, R
Kelsey, G
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) : 1213 - 1219
[9] Loss of the maternal H19 gene induces changes in Igf2 methylation in both cis and trans
Forne, T
Oswald, J
Dean, W
Saam, JR
Bailleul, B
Dandolo, L
Tilghman, SM
Walter, J
Reik, W
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (19) : 10243 - 10248
[10] An imprinted gene p57(KIP2) is mutated in Beckwith-Wiedemann syndrome
Hatada, I
Ohashi, H
Fukushima, Y
Kaneko, Y
Inoue, M
Komoto, Y
Okada, A
Ohishi, S
Nabetani, A
Morisaki, H
Nakayama, M
Niikawa, N
Mukai, T
[J]. NATURE GENETICS, 1996, 14 (02) : 171 - 173

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