Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

被引：51

作者：

Hannula, K

Kere, J

Pirinen, S

Holmberg, C

Lipsanen-Nyman, M

机构：

[1] Univ Helsinki, Haartman Inst, Dept Med Genet, FIN-00014 Helsinki, Finland

[2] Univ Helsinki, Finnish Genome Ctr, FIN-00014 Helsinki, Finland

[3] Univ Helsinki, Dept Oral & Maxillofacial Surg, FIN-00014 Helsinki, Finland

[4] Univ Helsinki, Hosp Children & Adolescents, FIN-00029 Helsinki, Finland

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 04期

关键词：

D O I：

10.1136/jmg.38.4.273

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：273 / 278

页数：6

共 35 条

[11] Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy [J].

Eggermann, T ;

Wollmann, HA ;

Kuner, R ;

Eggermann, K ;

Enders, H ;

Kaiser, P ;

Ranke, MB .

HUMAN GENETICS, 1997, 100 (3-4) :415-419

[12]

ESCOBAR V, 1978, CLIN GENET, V13, P278

[13]

Freeman B, 1997, IEEE SPECTRUM, V34, P6

[14]

HOGLUND P, 1994, AM J HUM GENET, V55, P747

[15] CRANIOFACIAL AND DENTAL CHARACTERISTICS OF SILVER-RUSSELL SYNDROME [J].

KOTILAINEN, J ;

HOLTTA, P ;

MIKKONEN, T ;

ARTE, S ;

SIPILA, I ;

PIRINEN, S .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 56 (02) :229-236

[16] UNIPARENTAL DISOMY-7 IN SILVER-RUSSELL-SYNDROME AND PRIMORDIAL GROWTH-RETARDATION [J].

KOTZOT, D ;

SCHMITT, S ;

BERNASCONI, F ;

ROBINSON, WP ;

LURIE, IW ;

ILYINA, H ;

MEHES, K ;

HAMEL, BCJ ;

OTTEN, BJ ;

HERGERSBERG, M ;

WERDER, E ;

SCHOENLE, E ;

SCHINZEL, A .

HUMAN MOLECULAR GENETICS, 1995, 4 (04) :583-587

[17] PRENATAL AND POSTNATAL-GROWTH FAILURE ASSOCIATED WITH MATERNAL HETERODISOMY FOR CHROMOSOME-7 [J].

LANGLOIS, S ;

YONG, SL ;

WILSON, RD ;

KWONG, LC ;

KALOUSEK, DK .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (11) :871-875

[18]

MIDRO AT, 1993, CLIN GENET, V44, P53

[19] Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients [J].

Moncla, A ;

Malzac, P ;

Voelckel, MA ;

Auquier, P ;

Girardot, L ;

Mattei, MG ;

Philip, N ;

Mattei, JF ;

Lalande, M ;

Livet, MO .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (02) :131-139

[20]

PARTINGTON MW, 1986, CLIN GENET, V29, P151

← 1 2 3 4 →