Jackson-Weiss syndrome

被引：8

作者：

Cohen, MM ^{[1
]}

机构：

[1] Dalhousie Univ, Dept Oral & Maxillofacial Surg, Halifax, NS, Canada

[2] Dalhousie Univ, Hlth Serv Adm, Dept Epidemiol, Halifax, NS, Canada

[3] Dalhousie Univ, Dept Pediat, Halifax, NS, Canada

[4] Dalhousie Univ, Dept Community Hlth, Halifax, NS, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 100卷 / 04期

关键词：

D O I：

10.1002/ajmg.1271

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：325 / 329

页数：5

共 36 条

[1] JACKSON-WEISS SYNDROME - CLINICAL AND RADIOLOGICAL FINDINGS IN A LARGE KINDRED AND EXCLUSION OF THE GENE FROM 7P21 AND 5QTER [J].

ADES, LC ;

MULLAY, JC ;

SENGA, IP ;

MORRIS, LL ;

DAVID, DJ ;

HAAN, EA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (02) :121-130

[2]

Antonarakis SE, 1998, HUM MUTAT, V11, P1

[3] PITFALLS OF GENETIC-COUNSELING IN PFEIFFERS SYNDROME [J].

BARAITSER, M ;

BOWENBRAVERY, M ;

SALDANAGARCIA, P .

JOURNAL OF MEDICAL GENETICS, 1980, 17 (04) :250-256

[4]

COHEN MM, 2001, IN PRESS PLAST RECON

[5]

COHEN MM, 2000, CRANIOSYNOSTOSIS DIA, P385

[6]

COHEN MM, 2000, CRANIOSYNOSTOSIS DIA, P77

[7]

Escobar V, 1977, Birth Defects Orig Artic Ser, V13, P139

[8] COMPLEXITY OF FGF RECEPTORS - GENETIC-BASIS FOR STRUCTURAL DIVERSITY AND FUNCTIONAL SPECIFICITY [J].

GIVOL, D ;

YAYON, A .

FASEB JOURNAL, 1992, 6 (15) :3362-3369

[9] FATAL FAMILIAL INSOMNIA AND FAMILIAL CREUTZFELDT-JAKOB DISEASE - DISEASE PHENOTYPE DETERMINED BY A DNA POLYMORPHISM [J].

GOLDFARB, LG ;

PETERSEN, RB ;

TABATON, M ;

BROWN, P ;

LEBLANC, AC ;

MONTAGNA, P ;

CORTELLI, P ;

JULIEN, J ;

VITAL, C ;

PENDELBURY, WW ;

HALTIA, M ;

WILLS, PR ;

HAUW, JJ ;

MCKEEVER, PE ;

MONARI, L ;

SCHRANK, B ;

SWERGOLD, GD ;

AUTILIOGAMBETTI, L ;

GAJDUSEK, DC ;

LUGARESI, E ;

GAMBETTI, P .

SCIENCE, 1992, 258 (5083) :806-808

[10] CROUZON SYNDROME - MUTATIONS IN 2 SPLICEOFORMS OF FGFR2 AND A COMMON POINT MUTATION SHARED WITH JACKSON-WEISS SYNDROME [J].

GORRY, MC ;

PRESTON, RA ;

WHITE, GJ ;

ZHANG, YZ ;

SINGHAL, VK ;

LOSKEN, HW ;

PARKER, MG ;

NWOKORO, NA ;

POST, JC ;

EHRLICH, GD .

HUMAN MOLECULAR GENETICS, 1995, 4 (08) :1387-1390

← 1 2 3 4 →