Search Results - "Mangelsdorf, Marie E"

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy by Lower, Karen M, Lütcherath, Viggo, Gécz, Jozef, Frints, Suzanna G.M, Partington, Michael, Strømme, Petter, Scheffer, Ingrid E, Gedeon, Ági K, Lewis, Suzanne M.E, Turner, Gillian, Fryns, Jean-Pierre, Sutherland, Grant R, Wallace, Robyn H, Mangelsdorf, Marie E, Shaw, Marie A, Mulley, John C, Bruyere, Helene

“…Mental retardation and epilepsy often occur together. They are both heterogeneous conditions with acquired and genetic causes. Where causes are primarily…”
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Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX by Strømme, Petter, Mangelsdorf, Marie E, Scheffer, Ingrid E, Gécz, Jozef

“…Clinical data from 50 mentally retarded (MR) males in nine X-linked MR families, syndromic and non-specific, with mutations (duplication, expansion, missense,…”
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Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX by STRØMME, Petter, MANGELSDORF, Marie E, SCHEFFER, Ingrid E, GECZ, Jozef

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