Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Theresa M. Diamond"'
Autor:
Allen W. Root, Susan Minton, Theresa M. Diamond, Rebecca Sutphen, Hui C. Tsou, Monica Peacocke
Publikováno v:
American Journal of Medical Genetics. 82:290-293
Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique de novo germline mis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2618d053258184003614c20bdff275d4
https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<290::aid-ajmg3>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990212)82:4<290::aid-ajmg3>3.0.co
Autor:
Peter Papenhausen, Theresa M. Diamond, Maxine J. Sutcliffe, Boris G. Kousseff, Virginia P. Johnson, O. T. Mueller
Publikováno v:
American Journal of Medical Genetics. 59:271-275
Uniparental disomy (UPD) of a number of different chromosomes has been found in associated with abnormal phenotypes. A growing body of evidence for an imprinting effect involving chromosome 14 has been accumulating. We report on a case of paternal UP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fb06fa66fbd4068818cc7bc7d094565
https://doi.org/10.1002/ajmg.1320590302
https://doi.org/10.1002/ajmg.1320590302