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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Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

By Simn-Snchez Javier   Singleton Andrew B.  

Human Molecular Genetics, Vol. 17, Iss. 13, 2008-07 ,pp. : 1988-1993

Oxford University Press

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Mutations in a novel gene, VMD2 , encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

By Passmore L.A.   Krämer F.   Rivera A.   Weber B.H.F.   Marquardt A.   Stöhr H.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1517-1525

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Mutations in the human SIX3 gene in holoprosencephaly are loss of function

By Domen Sabina   Roessler Erich   El-Jaick Kenia B.   Snir Mirit   Brown Jamie L.   Vlez Jorge I.   Bale Sherri   Lacbawan Felicitas   Muenke Maximilian   Feldman Benjamin  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3919-3928

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Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics

By Irrcher I.   Aleyasin H.   Seifert E.L.   Hewitt S.J.   Chhabra S.   Phillips M.   Lutz A.K.   Rousseaux M.W.C.   Bevilacqua L.   Jahani-Asl A.   Callaghan S.   MacLaurin J.G.   Winklhofer K.F.   Rizzu P.   Rippstein P.   Kim R.H.   Chen C.X.   Fon E.A.   Slack R.S.   Harper M.E.   McBride H.M.   Mak T.W.   Park D.S.  

Human Molecular Genetics, Vol. 19, Iss. 19, 2010-10 ,pp. : 3734-3746

Oxford University Press

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