Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at-1249

被引：30

作者：

Fernandez, RM

Boru, G

Peciña, A

Jones, K

López-Alonso, M

Antiñolo, G

Borrego, S

Eng, C

机构：

[1] Hosp Univ Virgen del Rocio, Unidad Clin Genet & Reprod, Seville 41013, Spain

[2] Ohio State Univ, Ctr Comprehens Canc, Human Canc Genet Program, Columbus, OH 43210 USA

[3] Hosp Univ Virgen del Rocio, Serv Cirugia Infantil, Seville, Spain

来源：

JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 04期

关键词：

D O I：

10.1136/jmg.2004.023960

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：322 / 327

页数：6

共 20 条

[1] Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome [J].

Amiel, J ;

Laudier, B ;

Attié-Bitach, T ;

Trang, H ;

de Pontual, L ;

Gener, B ;

Trochet, D ;

Etchevers, H ;

Ray, P ;

Simonneau, M ;

Vekemans, M ;

Munnich, A ;

Gaultier, C ;

Lyonnet, S .

NATURE GENETICS, 2003, 33 (04) :459-461

[2] MUTATION ANALYSIS OF THE RET RECEPTOR TYROSINE KINASE IN HIRSCHSPRUNG DISEASE [J].

ANGRIST, M ;

BOLK, S ;

THIEL, B ;

PUFFENBERGER, EG ;

HOFSTRA, RM ;

BUYS, CHCM ;

CASS, DT ;

CHAKRAVARTI, A .

HUMAN MOLECULAR GENETICS, 1995, 4 (05) :821-830

[3] DIVERSITY OF RET PROTOONCOGENE MUTATIONS IN FAMILIAL AND SPORADIC HIRSCHSPRUNG DISEASE [J].

ATTIE, T ;

PELET, A ;

EDERY, P ;

ENG, C ;

MULLIGAN, LM ;

AMIEL, J ;

BOUTRAND, L ;

BELDJORD, C ;

NIHOULFEKETE, C ;

MUNNICH, A ;

PONDER, BAJ ;

LYONNET, S .

HUMAN MOLECULAR GENETICS, 1995, 4 (08) :1381-1386

[4] A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus [J].

Bolk, S ;

Pelet, A ;

Hofstra, RMW ;

Angrist, M ;

Salomon, R ;

Croaker, D ;

Buys, CHCM ;

Lyonnet, S ;

Chakravarti, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (01) :268-273

[5] Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease [J].

Borrego, S ;

Eng, C ;

Sánchez, B ;

Sáez, ME ;

Navarro, E ;

Antiñolo, G .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1998, 83 (09) :3361-3364

[6]

Borrego S, 2003, J Med Genet, V40, pe18, DOI 10.1136/jmg.40.3.e18

[7] A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma [J].

Borrego, S ;

Wright, FA ;

Fernández, RM ;

Williams, N ;

Lopez-Alonso, M ;

Davuluri, R ;

Antiñolo, G ;

Eng, C .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (01) :88-100

[8] Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression [J].

Borrego, S ;

Sáez, ME ;

Ruiz, A ;

Gimm, O ;

López-Alonso, M ;

Antiñolo, G ;

Eng, C .

JOURNAL OF MEDICAL GENETICS, 1999, 36 (10) :771-774

[9] RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease [J].

Borrego, S ;

Ruiz, A ;

Saez, ME ;

Gimm, O ;

Gao, X ;

López-Alonso, M ;

Hernández, A ;

Wright, FA ;

Antiñolo, G ;

Eng, C .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (08) :572-578

[10] Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2 [J].

Burzynski, GM ;

Nolte, IM ;

Osinga, J ;

Ceccherini, I ;

Twigt, B ;

Maas, S ;

Brooks, A ;

Verheij, J ;

Menacho, IP ;

Buys, CHCM ;

Hofstra, RMW .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (08) :604-612

← 1 2 →