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
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
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页码:273 / 278
页数:6
相关论文
共 35 条
[1]  
Allanson JE, 1999, AM J HUM GENET, V65, pA35
[2]  
Bernard LE, 1999, AM J MED GENET, V87, P230, DOI 10.1002/(SICI)1096-8628(19991126)87:3<230::AID-AJMG7>3.0.CO
[3]  
2-S
[4]   Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion [J].
Blagitko, N ;
Mergenthaler, S ;
Schulz, U ;
Wollmann, HA ;
Craigen, W ;
Eggermann, T ;
Ropers, HH ;
Kalscheuer, VM .
HUMAN MOLECULAR GENETICS, 2000, 9 (11) :1587-1595
[5]   γ2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome [J].
Blagitko, N ;
Schulz, U ;
Schinzel, AA ;
Ropers, HH ;
Kalscheuer, VM .
HUMAN MOLECULAR GENETICS, 1999, 8 (13) :2387-2396
[6]   ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-15 - A MILDER PHENOTYPE [J].
BOTTANI, A ;
ROBINSON, WP ;
DELOZIERBLANCHET, CD ;
ENGEL, E ;
MORRIS, MA ;
SCHMITT, B ;
THUNHOHENSTEIN, L ;
SCHINZEL, A .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (01) :35-40
[7]  
CHAUVEL PJ, 1975, DEV MED CHILD NEUROL, V17, P220
[8]   3-GENERATION DOMINANT TRANSMISSION OF THE SILVER-RUSSELL SYNDROME [J].
DUNCAN, PA ;
HALL, JG ;
SHAPIRO, LR ;
VIBERT, BK .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (02) :245-250
[9]  
EGGERDING FA, 1994, AM J HUM GENET, V55, P253
[10]   Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome [J].
Eggermann, T ;
Eggermann, K ;
Mergenthaler, S ;
Kuner, R ;
Kaiser, P ;
Ranke, MB ;
Wollmann, HA .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (09) :784-786