Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas

By Maestro Miguel A.  

Human Molecular Genetics, Vol. 12, Iss. 24, 2003-12 ,pp. : 3307-3314

Oxford University Press

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Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia

By Dunger D.  

Human Molecular Genetics, Vol. 10, Iss. 1, 2001-01 ,pp. : 39-45

Oxford University Press

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A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations

By Maue Robert A.   Burgess Robert W.   Wang Bing   Wooley Christine M.   Seburn Kevin L.   Vanier Marie T.   Rogers Maximillian A.   Chang Catherine C.   Chang Ta-Yuan   Harris Brent T.   Graber David J.   Penatti Carlos A.A.   Porter Donna M.   Szwergold Benjamin S.   Henderson Leslie P.   Totenhagen John W.   Trouard Theodore P.   Borbon Ivan A.   Erickson Robert P.  

Human Molecular Genetics, Vol. 21, Iss. 4, 2012-02 ,pp. : 730-750

Oxford University Press

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Identification of Nine Novel Mutations in the Hepatocyte Nuclear Factor 1 Alpha Aene Associated with Maturity-Onset Diabetes of the Young (MODY3)

By Vaxillaire Martine   Rouard Mathias   Yamagata Kazuya   Oda Naohisa   Kaisaki Pamela J.   Boriraj V. Vicky   Chevre Jean-Claude   Boccio Valérie   Cox Roger D.   Lathrop G. Mark   Dussoix Philippe   Philippe Jacques   Timsit José   Charpentier Guillaume   Velho Gilberto   Bell Graeme I.   Froguel Philippe  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 583-586

Oxford University Press

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

By Longman Cheryl  

Human Molecular Genetics, Vol. 12, Iss. 21, 2003-11 ,pp. : 2853-2861

Oxford University Press

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