Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

By Mowat D.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1503-1510

Oxford University Press

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SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophy

By Goldstein Jeffery A.   Kelly Sean M.   LoPresti Peter P.   Heydemann Ahlke   Earley Judy U.   Ferguson Edwin L.   Wolf Matthew J.   McNally Elizabeth M.  

Human Molecular Genetics, Vol. 20, Iss. 5, 2011-03 ,pp. : 894-904

Oxford University Press

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Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2 , cause primary congenital glaucoma

By Narooie-Nejad Mehrnaz   Paylakhi Seyed Hassan   Shojaee Seyedmehdi   Fazlali Zeinab   Rezaei Kanavi Mozhgan   Nilforushan Naveed   Yazdani Shahin   Babrzadeh Farbod   Suri Fatemeh   Ronaghi Mostafa   Elahi Elahe   Paisn-Ruiz Coro  

Human Molecular Genetics, Vol. 18, Iss. 20, 2009-10 ,pp. : 3969-3977

Oxford University Press

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Genetic control of the circulating concentration of transforming growth factor type 1

By Grainger D.J.  

Human Molecular Genetics, Vol. 8, Iss. 1, 1999-01 ,pp. : 93-97

Oxford University Press

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Growth arrest-specific 1 binds to and controls the maturation and processing of the amyloid- precursor protein

By Chapuis Julien   Vingtdeux Valérie   Campagne Fabien   Davies Peter   Marambaud Philippe  

Human Molecular Genetics, Vol. 20, Iss. 10, 2011-05 ,pp. : 2026-2036

Oxford University Press

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