Clinical utility gene card for: Prader-Willi Syndrome

European Journal of Human Genetics

Volumn 22, Issue 9, 2014, Pages 1153-

  Buiting, Karin ^a   Cassidy, Suzanne B ^b   Driscoll, Daniel J ^c   Gillessen Kaesbach, Gabriele ^d   Kanber, Deniz ^a   Tauber, Maithé ^e,f   Schwinger, Eberhard ^d   Horsthemke, Bernhard ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF CALIFORNIA   (United States)

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

^d UNIVERSITY OF LÜBECK   (Germany)

^e HÔPITAL DES ENFANTS   (France)

^f France   (France)

Author keywords

[No Author keywords available]

Indexed keywords

OLIGONUCLEOTIDE; NUCLEAR PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SNRPN PROTEIN, HUMAN; SNURF PROTEIN, HUMAN;

ALSTROM SYNDROME; ANOXIA; ARTICLE; BARDET BIEDL SYNDROME; CHILDHOOD OBESITY; CHROMOSOME 15; COST EFFECTIVENESS ANALYSIS; DNA METHYLATION; DNA SEQUENCE; FAMILY HISTORY; FOLLOW UP; FRAGILE X SYNDROME; HAPPY PUPPET SYNDROME; HUMAN; HYPERPHAGIA; INCIDENCE; INFANTILE HYPOTONIA; MICROSATELLITE MARKER; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROMUSCULAR DISEASE; PHENOTYPE; PRADER WILLI SYNDROME; PREDICTIVE VALUE; PREVALENCE; PRIORITY JOURNAL; PYROSEQUENCING; RECURRENCE RISK; RISK ASSESSMENT; UNIPARENTAL DISOMY; CHROMOSOME ABERRATION; GENETIC SCREENING; GENETICS; PRADER-WILLI SYNDROME;

CHROMOSOME ABERRATIONS; GENETIC TESTING; HUMANS; NUCLEAR PROTEINS; PRADER-WILLI SYNDROME; SNRNP CORE PROTEINS;

EID: 84906224259     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.66     Document Type: Article

References (3)

1. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ: Prader-Willi syndrome. Genet Med 2012; 14: 10-26.
2. Ramsden SC, Clayton-Smith J, Birch R, Buiting K: Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Med Genet 2010; 11: 11-70.
3. Buiting K: Prader-Willi syndrome and Angelman syndrome. Am J Med Genet Part C 2010; 154C: 365-376.