The 22q11.2 deletion syndrome: More answers but more questions

被引：4

作者：

Fernhoff, PM ^{[1
]}

机构：

[1] Emory Univ, Sch Med, Dept Pediat, Div Med Genet, Atlanta, GA 30322 USA

来源：

JOURNAL OF PEDIATRICS | 2000年 / 137卷 / 02期

关键词：

D O I：

10.1067/mpd.2000.109024

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

[No abstract available]

引用

页码：145 / 147

页数：3

共 11 条

[1] Closing time for CATCH22 [J].

Burn, J .

JOURNAL OF MEDICAL GENETICS, 1999, 36 (10) :737-738

[2]

Carlson C, 1997, AM J HUM GENET, V60, P851

[3] A DELETION IN CHROMOSOME-22 CAN CAUSE DIGEORGE SYNDROME [J].

DELACHAPELLE, A ;

HERVA, R ;

KOIVISTO, M ;

AULA, P .

HUMAN GENETICS, 1981, 57 (03) :253-256

[4] Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow [J].

Eicher, PS ;

McDonald-McGinn, DM ;

Fox, CA ;

Driscoll, DA ;

Emanuel, BS ;

Zackai, EH .

JOURNAL OF PEDIATRICS, 2000, 137 (02) :158-164

[5] Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome [J].

Hopkin, RJ ;

Schorry, EK ;

Bofinger, M ;

Saal, HM .

JOURNAL OF PEDIATRICS, 2000, 137 (02) :247-249

[6] THE ASSOCIATION OF THE DIGEORGE ANOMALAD WITH PARTIAL MONOSOMY OF CHROMOSOME 22 [J].

KELLEY, RI ;

ZACKAI, EH ;

EMANUEL, BS ;

KISTENMACHER, M ;

GREENBERG, F ;

PUNNETT, HH .

JOURNAL OF PEDIATRICS, 1982, 101 (02) :197-200

[7] Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study [J].

Ryan, AK ;

Goodship, JA ;

Wilson, DI ;

Philip, N ;

Levy, A ;

Seidel, H ;

Schuffenhauer, S ;

Oechsler, H ;

Belohradsky, B ;

Prieur, M ;

Aurias, A ;

Raymond, FL ;

ClaytonSmith, J ;

Hatchwell, E ;

McKeown, C ;

Beemer, FA ;

Dallapiccola, B ;

Novelli, G ;

Hurst, JA ;

Ignatius, J ;

Green, AJ ;

Winter, RM ;

Brueton, L ;

BrondumNielsen, K ;

Stewart, F ;

VanEssen, T ;

Patton, M ;

Paterson, J ;

Scambler, PJ .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (10) :798-804

[8] Genetics - Engineering a broken heart [J].

Scambler, PJ .

NATURE, 1999, 401 (6751) :335-337

[9] Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis [J].

Shaikh, TH ;

Kurahashi, H ;

Saitta, SC ;

O'Hare, AM ;

Hu, P ;

Roe, BA ;

Driscoll, DA ;

McDonald-McGinn, DM ;

Zackai, EH ;

Budarf, ML ;

Emanuel, BS .

HUMAN MOLECULAR GENETICS, 2000, 9 (04) :489-501

[10] VELOCARDIOFACIAL SYNDROME AND DIGEORGE SEQUENCE [J].

SHPRINTZEN, RJ .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (05) :423-424

← 1 2 →