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of 4
pro vyhledávání: '"Carmen Garnacho"'
Autor:
Robert D. Nicholls, Uta Francke, Yelena Prints, Carmen Garnacho-Montero, Feng Ding, Dabney K. Johnson, Madhu S Dhar
Publikováno v:
Mammalian Genome. 16:424-431
Prader–Willi syndrome (PWS) is a neurobehavioral disorder caused by the lack of paternal expression of imprinted genes in the human chromosome region 15q11–13. Recent studies of rare human translocation patients narrowed the PWS critical genes to
Publikováno v:
Europe PubMed Central
Autor:
Carmen Garnacho, Fernández-Novoa C, Nieto M, Ruiz del Portal M, del Castillo E, Jl, Vizmanos, Mt, Vargas
Publikováno v:
Europe PubMed Central
[Prader-Willi syndrome large deletion on two brothers. Is this the exception that confirm the rule?]
Autor:
Mc, Fernández-Novoa, Mt, Vargas, Jl, Vizmanos, Carmen Garnacho, Jj, Martínez, Sanz P, Lluch D
Publikováno v:
Europe PubMed Central
Prader-Willi syndrome (PWS), a neuroendocrine disorder could be due to: a large paternally derived chromosome deletion of 15q11-13, to maternal uniparental disomy (UPD), or imprinting mutation (IC); amongst this last group five families, with inherit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f2640fdb81289c96d51933d7b2fa9ef0
http://europepmc.org/abstract/med/11424049
http://europepmc.org/abstract/med/11424049