Nance–Horan syndrome protein, NHS, associates with epithelial cell junctions

By Sharma Shiwani   Ang Sharyn L.   Shaw Marie   Mackey David A.   Gécz Jozef   McAvoy John W.   Craig Jamie E.  

Human Molecular Genetics, Vol. 15, Iss. 12, 2006-06 ,pp. : 1972-1983

Oxford University Press

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Xcat, a novel mouse model for Nance–Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform

By Huang Kristen M.   Wu Junhua   Duncan Melinda K.   Moy Chris   Dutra Amalia   Favor Jack   Da Tong   Stambolian Dwight  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 319-327

Oxford University Press

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The NanceHoran syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology

By Brooks Simon P.   Coccia Margherita   Tang Hao R.   Kanuga Naheed   Machesky Laura M.   Bailly Maryse   Cheetham Michael E.   Hardcastle Alison J.  

Human Molecular Genetics, Vol. 19, Iss. 12, 2010-06 ,pp. : 2421-2432

Oxford University Press

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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

By Budny Bartlomiej   Chen Wei   Omran Heymut   Fliegauf Manfred   Tzschach Andreas   Wisniewska Marzena   Jensen Lars   Raynaud Martine   Shoichet Sarah   Badura Magda   Lenzner Steffen   Latos-Bielenska Anna   Ropers Hans-Hilger  

Human Genetics, Vol. 120, Iss. 2, 2006-09 ,pp. : 171-178

Springer Publishing Company

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Sex-Specific Mutation Rates for X-Linked Disorders: Estimation and Application

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Human Heredity, Vol. 55, Iss. 1, 2003-08 ,pp. : 51-55

Karger

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