Evidence for locus heterogeneity in the Camurati-Engelmann (DPD1) Syndrome

被引：20

作者：

Hecht, JT ^{[1
]}

Blanton, SH ^{[1
]}

Broussard, S ^{[1
]}

Scott, A ^{[1
]}

Hall, CR ^{[1
]}

Milunsky, JM ^{[1
]}

机构：

[1] Dept Pediat, Houston, TX 77030 USA

来源：

CLINICAL GENETICS | 2001年 / 59卷 / 03期

关键词：

D O I：

10.1034/j.1399-0004.2001.590310.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：198 / 200

页数：3

共 14 条

[1]

Camurati M., 1922, CHIR ORG MOVIMENTO, V6, P662

[2]

ENGELMANN G, 1929, ROFO FORTSCHR RONTG, V39, P1101

[3] PROGRESSIVE DIAPHYSEAL DYSPLASIA (ENGELMANNS DISEASE) - REPORT OF A SPORADIC CASE OF THE MILD FORM [J].

FALLON, MD ;

WHYTE, MP ;

MURPHY, WA .

JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 1980, 62 (03) :465-472

[4] Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3 [J].

Ghadami, M ;

Makita, Y ;

Yoshida, K ;

Nishimura, G ;

Fukushima, Y ;

Wakui, K ;

Ikegawa, S ;

Yamada, K ;

Kondo, S ;

Niikawa, N ;

Tomita, H .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (01) :143-147

[5] SCLEROSING BONE DYSPLASIAS - A TARGET-SITE APPROACH [J].

GREENSPAN, A .

SKELETAL RADIOLOGY, 1991, 20 (08) :561-583

[6] Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease [J].

Kinoshita, A ;

Saito, T ;

Tomita, H ;

Makita, Y ;

Yoshida, K ;

Ghadami, M ;

Yamada, K ;

Kondo, S ;

Ikegawa, S ;

Nishimura, G ;

Fukushima, Y ;

Nakagomi, T ;

Saito, H ;

Sugimoto, T ;

Kamegaya, M ;

Hisa, K ;

Murray, JC ;

Taniguchi, N ;

Niikawa, N ;

Yoshiura, K .

NATURE GENETICS, 2000, 26 (01) :19-20

[7] STRATEGIES FOR MULTILOCUS LINKAGE ANALYSIS IN HUMANS [J].

LATHROP, GM ;

LALOUEL, JM ;

JULIER, C ;

OTT, J .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (11) :3443-3446

[8]

Mukhopadhyay N, 1999, AM J HUM GENET, V65, pA436

[9] THE VITESSE ALGORITHM FOR RAPID EXACT MULTILOCUS LINKAGE ANALYSIS VIA GENOTYPE SET-RECODING AND FUZZY INHERITANCE [J].

OCONNELL, JR ;

WEEKS, DE .

NATURE GENETICS, 1995, 11 (04) :402-408

[10]

Saraiva JM, 1997, AM J MED GENET, V71, P348, DOI 10.1002/(SICI)1096-8628(19970822)71:3<348::AID-AJMG17>3.0.CO

← 1 2 →