Activation of Rho GTPases in SmithLemliOpitz syndrome: pathophysiological and clinical implications

By Jiang Xiao-Sheng   Wassif Christopher A.   Backlund Peter S.   Song Li   Holtzclaw Lynne A.   Li Zheng   Yergey Alfred L.   Porter Forbes D.  

Human Molecular Genetics, Vol. 19, Iss. 7, 2010-04 ,pp. : 1347-1357

Oxford University Press

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Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary

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Molecular Syndromology, Vol. 3, Iss. 5, 2012-11 ,pp. : 215-222

Karger

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Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy

By Correa-Cerro Lina S.   Wassif Christopher A.   Kratz Lisa   Miller Georgina F.   Munasinghe Jeeva P.   Grinberg Alexander   Fliesler Steven J.   Porter Forbes D.  

Human Molecular Genetics, Vol. 15, Iss. 6, 2006-03 ,pp. : 839-851

Oxford University Press

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Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of SmithLemliOpitz syndrome

By Lindegaard Marie L.   Wassif Christopher A.   Vaisman Boris   Amar Marcelo   Wasmuth Elizabeth V.   Shamburek Robert   Nielsen Lars B.   Remaley Alan T.   Porter Forbes D.  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3806-3813

Oxford University Press

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Spectrum of Δ 7 -dehydrocholesterol reductase mutations in patients with the Smith–Lemli–Opitz (RSH) syndrome

By Yu Hongwei   Lee Mi-Hye   Starck Lena  

Human Molecular Genetics, Vol. 9, Iss. 9, 2000-05 ,pp. : 1385-1391

Oxford University Press

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