Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

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Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 3, 2016-05 ,pp. : 359-366

John Wiley & Sons Inc

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Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund–Thomson syndrome

By Mann Michael B.  

Human Molecular Genetics, Vol. 14, Iss. 6, 2005-03 ,pp. : 813-825

Oxford University Press

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SALL1, the gene mutated in Townes–Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

By Netzer Christian   Rieger Leonie   Brero Alessandro   Zhang Chang-Dong   Hinzke Markus   Kohlhase Jürgen   Bohlander StefanK.  

Human Molecular Genetics, Vol. 10, Iss. 26, 2001-12 ,pp. : 3017-3024

Oxford University Press

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Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and RothmundThomson syndrome

By Walne Amanda J.   Vulliamy Tom   Beswick Richard   Kirwan Michael   Dokal Inderjeet  

Human Molecular Genetics, Vol. 19, Iss. 22, 2010-11 ,pp. : 4453-4461

Oxford University Press

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

By Cliffe Simon T.   Kramer Jamie M.   Hussain Khalid   Robben Joris H.   de Jong Eiko K.   de Brouwer Arjan P.   Nibbeling Esther   Kamsteeg Erik-Jan   Wong Melanie   Prendiville Julie   James Chela   Padidela Raja   Becknell Charlie   van Bokhoven Hans   Deen Peter M.T.   Hennekam Raoul C.M.   Lindeman Robert   Schenck Annette   Roscioli Tony   Buckley Michael F.  

Human Molecular Genetics, Vol. 18, Iss. 12, 2009-06 ,pp. : 2257-2265

Oxford University Press

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