Search Results - "Ruddy, Deborah M."

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies by Southgate, Laura, Machado, Rajiv D., Snape, Katie M., Primeau, Martin, Dafou, Dimitra, Ruddy, Deborah M., Branney, Peter A., Fisher, Malcolm, Lee, Grace J., Simpson, Michael A., He, Yi, Bradshaw, Teisha Y., Blaumeiser, Bettina, Winship, William S., Reardon, Willie, Maher, Eamonn R., FitzPatrick, David R., Wuyts, Wim, Zenker, Martin, Lamarche-Vane, Nathalie, Trembath, Richard C.

“…Regulation of cell proliferation and motility is essential for normal development. The Rho family of GTPases plays a critical role in the control of cell…”
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DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies by Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Snape, Katie M., Trembath, Richard, De Smedt, Maryse, van der Aa, Nathalie, Skalej, Martin, Mundlos, Stefan, Wuyts, Wim, Southgate, Laura, Zenker, Martin

“…ABSTRACT Adams–Oliver syndrome (AOS) is characterized by the association of aplasia cutis congenita with terminal transverse limb defects, often accompanied by…”
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Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease by Furness, Hugh, Salfity, Louay, Devereux, Johanna, Halliday, Dorothy, Hanson, Helen, Ruddy, Deborah M, Uk Vhl Study Group, Shah, Neha, Sultana, George, Woodward, Emma R, Sandford, Richard N, Snape, Katie M, Maher, Eamonn R

“…Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with…”
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DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies by Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Bramswig, Nuria C., Snape, Katie M., Trembath, Richard, De Smedt, Maryse, van der Aa, Nathalie, Skalej, Martin, Mundlos, Stefan, Wuyts, Wim, Southgate, Laura, Zenker, Martin

“…The original article to which this Erratum refers was published in Human Mutation 36(6):593–598(DOI:10.1002/humu22795).The authors realized that a co-author,…”
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Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q by Ruddy, Deborah M., Parton, Matthew J., Al-Chalabi, Ammar, Lewis, Cathryn M., Vance, Caroline, Smith, Bradley N., Leigh, P. Nigel, Powell, John F., Siddique, Teepu, Postumus Meyjes, Eelco, Baas, Frank, De Jong, Vianney, Shaw, Christopher E.

“…Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset disease in which motor neurons in the brain and spinal cord degenerate by largely unknown…”
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