Výsledky vyhledávání - "Shalan Kamath"

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome

Autor: Roy Wadey, Sara Daw, Catherine Taylor, Uzma Atif, Shalan Kamath, Stephanie Halford, Hilary O‘Donnell, David Wilson, Judith Goodship, John Burn, Peter Scambler

Publikováno v: Human molecular genetics. 4(6)

Deletions within 22q11 have been associated with a wide variety of birth defects embraced by the acronym CATCH22 and including the DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease. It is not known how ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::011628152029f3feae15b7eba868c14a
https://pubmed.ncbi.nlm.nih.gov/7655455

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Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

Autor: Stephanie Halford, David I Wilson, Sara C.M. DAW, Cathrine Roberts, Roy Wadey, Shalan Kamath, Amal Wickremasinghe, John Burn, Judith Goodship, Marie-Genevieve Mattel, F.M. Moormon, Peter J. Sclambler

Publikováno v: Human molecular genetics. 2(10)

DiGeorge syndrome (DGS) is one of several syndromes associated with deletions within the proximal long-arm of chromosome 22. The region of chromosome 22q11 responsible for the haploinsufficiency syndromes (the DiGeorge Critical Region or DGCR) has be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5141b097a96385bfab0aebfbc2674c66
http://ora.ox.ac.uk/objects/uuid:ef8fd8a4-454e-45f8-9578-cfed326f9835

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