Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

American Journal of Medical Genetics

Volumn 68, Issue 2, 1997, Pages 195-206

  Saitoh, Shinji ^a   Buiting, Karin ^b   Cassidy, Suzanne B ^a   Conroy, Jeffrey M ^a   Driscoll, Daniel J ^c   Gabriel, James M ^a   Gillessen Kaesbach, Gabriele ^b   Glenn, Christopher C ^c   Greenswag, Louise R ^d   Horsthemke, Bernhard ^b   Kondo, Ikuko ^e   Kuwajima, Katsuko ^f   Niikawa, Norio ^g   Rogan, Peter K ^h   Schwartz, Stuart ^a   Seip, James ^h   Williams, Charles A ^c   Nicholls, Robert D ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF IOWA   (United States)

^e EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f Department of Pediatrics   (Japan)

^g NAGASAKI UNIVERSITY   (Japan)

^h PENN STATE COLLEGE OF MEDICINE   (United States)

Author keywords

Angelman syndrome; genomic imprinting; imprinting mutation; Prader Willi syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DNA METHYLATION; FEMALE; GENE DELETION; GENE MUTATION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; HYPOPIGMENTATION; MALE; MICROCEPHALY; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

ADULT; ANGELMAN SYNDROME; AUTOANTIGENS; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DNA; DNA METHYLATION; EXONS; FEMALE; HUMANS; HYPOPIGMENTATION; LEUKOCYTES; MALE; MICROCEPHALY; MICROSATELLITE REPEATS; MUTATION; NUCLEIC ACID HYBRIDIZATION; PATIENT EDUCATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRADER-WILLI SYNDROME; RIBONUCLEOPROTEINS, SMALL NUCLEAR; SEQUENCE DELETION; ZINC FINGERS;

EID: 0031055875     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970120)68:2<195::AID-AJMG15>3.0.CO;2-P     Document Type: Article

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