TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease

By Garcia-Barcelo Mercè  

Human Molecular Genetics, Vol. 14, Iss. 2, 2005-01 ,pp. : 191-204

Oxford University Press

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A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease (HSCR)

By Yang G.C.   Croaker D.   Zhang A.L.   Manglick P.   Cartmill T.   Cass D.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 1047-1053

Oxford University Press

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A Duplication of 12 bp in the Critical Cysteine Rich Domain of the RET Proto-Oncogene Results in a Distinct Phenotype of Multiple Endocrine Neoplasia Type 2A

By Höppner Wolfgang   Ritter Michael M.  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 587-587

Oxford University Press

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Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

By Bachy B.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1449-1452

Oxford University Press

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Intrinsic susceptibility to misfolding of a hot-spot for Hirschsprung disease mutations in the ectodomain of RET

By Kjær Svend   Ibáñez Carlos F.  

Human Molecular Genetics, Vol. 12, Iss. 17, 2003-09 ,pp. : 2133-2144

Oxford University Press

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