Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes

被引：22

作者：

Mégarbané, A ^{[1
]}

Le Lorch, M ^{[1
]}

Elghezal, H ^{[1
]}

Joly, G ^{[1
]}

Gosset, P ^{[1
]}

Souraty, N ^{[1
]}

Samaras, L ^{[1
]}

Prieur, M ^{[1
]}

Vekemans, M ^{[1
]}

Turleau, C ^{[1
]}

Romana, SP ^{[1
]}

机构：

[1] St Josephs Univ, Fac Med, Lab Biol Mol & Cytogenet, Unite Genet Med, Beirut, Lebanon

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 03期

关键词：

D O I：

10.1136/jmg.38.3.178

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：178 / 182

页数：5

共 40 条

[1] The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome [J].

Bourgeois, P ;

Bolcato-Bellemin, AL ;

Danse, JM ;

Bloch-Zupan, A ;

Yoshiba, K ;

Stoetzel, C ;

Perrin-Schmitt, F .

HUMAN MOLECULAR GENETICS, 1998, 7 (06) :945-957

[2]

Cai T, 1999, AM J MED GENET, V86, P305, DOI 10.1002/(SICI)1096-8628(19991008)86:4<305::AID-AJMG1>3.0.CO

[3]

2-B

[4]

CANTU JM, 1985, ANN GENET-PARIS, V28, P254

[5]

CASPERSSON T, 1971, ANN GENET-PARIS, V14, P143

[6] TWIST IS REQUIRED IN HEAD MESENCHYME FOR CRANIAL NEURAL-TUBE MORPHOGENESIS [J].

CHEN, ZF ;

BEHRINGER, RR .

GENES & DEVELOPMENT, 1995, 9 (06) :686-699

[7] 6 CASES OF 7P DELETION - CLINICAL, CYTOGENETIC, AND MOLECULAR STUDIES [J].

CHOTAI, KA ;

BRUETON, LA ;

VANHERWERDEN, L ;

GARRETT, C ;

HINKEL, GK ;

SCHINZEL, A ;

MUELLER, RF ;

SPELEMAN, F ;

WINTER, RM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (03) :270-276

[8]

De Grouchy J, 1984, CLIN ATLAS HUMAN CHR, V2nd

[9]

DEBIECRYCHTER M, 1990, AM J MED GENET, V36, P316

[10] Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent ductus botalli [J].

Devriendt, K ;

Jaeken, J ;

Matthijs, G ;

Van Esch, H ;

Debeer, P ;

Gewillig, M ;

Fryns, JP .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (01) :249-251

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