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Volumn 2, Issue 2, 2000, Pages 131-135

Characteristics of two cases with dup(15)(q11.2-q12): One of maternal and one of paternal origin

Author keywords

Clinical features; Duplication; PWS AS critical region

Indexed keywords

ADOLESCENT; ARTICLE; AUTISM; BEHAVIOR DISORDER; BODY DYSMORPHIC DISORDER; CHILD; CHROMOSOME DUPLICATION; CYTOGENETICS; DEPRESSION; DEVELOPMENTAL DISORDER; DNA METHYLATION; EXTRACHROMOSOMAL INHERITANCE; FLUORESCENCE IN SITU HYBRIDIZATION; HAPPY PUPPET SYNDROME; HEREDITY; HUMAN; MALE; OBESITY; PATERNITY; PHENOTYPE; PRADER WILLI SYNDROME; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; SPEECH INTELLIGIBILITY; STRABISMUS;

EID: 0034532203     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200003000-00003     Document Type: Article
Times cited : (66)

References (18)
  • 16
    • 17144438935 scopus 로고    scopus 로고
    • The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
    • (1999) Hum Mol Genet , vol.8 , pp. 337-343
    • Farber, C.1    Dittrich, B.2    Buiting, K.3    Horsthemke, B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.