- ... Alvarez,N., Salas-Puig,J., Hernandez-Lahoz,C., Angelman syndrome and celiac disease, Revista Espanola de Enfermedades DigestivasRev. ... Current Gastroenterology Reports 9: 401–5. Narrative review (references ... syndrome. Gastroenterology 19: 674–97. Not RCD. ADLERSBERG D, ...
- ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region of chromosome 15 by one of ...
- ... of imprinted genes in the paternally derived PWS / Angelman syndrome region (15q11.2-q13) of chromosome 15 by ...
- ... of imprinted genes in the paternally derived PWS / Angelman syndrome region (15q11.2-q13) of chromosome 15 by ...
- ... phenotypic findings (i.e., clinical features of BWS & Angelman syndrome); assoc w/features of TNDM, SRS, & BWS. Mosaic ... KCNQ1OT1 Data are compiled from the following standard references: gene from ... Beckwith-Wiedemann Syndrome ( View All in OMIM ) View in own window ...
- ... expression or function of maternally inherited UBE3A allele Angelman syndrome See footnote 1. Bursts of laughter, macrostomia, tongue ...
- ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region of chromosome 15 by one of ... TK2 Data are compiled from the following standard references: gene from ... SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 Molecular Pathogenesis Mitochondrial DNA ( ...
- ... I (OMIM 203100 , 606952 ) 100% UBE3A UBE3AP2 UBE3AP1 Angelman syndrome ~11% VWF VWFP1 von Willebrand disease 100% AD = ...
- ... disorders such as autism and Prader-Willi or Angelman syndromes. MLPA can easily discriminate the relative copy number ...
- NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, United States Army (Series 4, ...Publication: Washington : U.S. G.P.O., 1936-1948... with bilateral massive adrenal hemorrhage 'the Waterhouse-Friderichsen syndrome) with special reference to I he pathology, the medicolegal aspects and ...