Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome

By Bachetti Tiziana   Matera Ivana   Borghini Silvia   Duca Marco Di   Ravazzolo Roberto   Ceccherini Isabella  

Human Molecular Genetics, Vol. 14, Iss. 13, 2005-07 ,pp. : 1815-1824

Oxford University Press

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Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

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Human Molecular Genetics, Vol. 13, Iss. 19, 2004-10 ,pp. : 2313-2324

Oxford University Press

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The MYH9/APOL1 region and chronic kidney disease in European-Americans

By O'Seaghdha Conall M.   Parekh Rulan S.   Hwang Shih-Jen   Li Man   Köttgen Anna   Coresh Josef   Yang Qiong   Fox Caroline S.   Kao W.H. Linda  

Human Molecular Genetics, Vol. 20, Iss. 12, 2011-06 ,pp. : 2450-2456

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Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9

By Wang Ying   Groppe Jay C.   Wu Jingfeng   Ogawa Takuya   Mues Gabriele   D'Souza Rena N.   Kapadia Hitesh  

Human Molecular Genetics, Vol. 18, Iss. 15, 2009-08 ,pp. : 2863-2874

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Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations

By Jones Siân  

Human Molecular Genetics, Vol. 11, Iss. 23, 2002-11 ,pp. : 2961-2967

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