Výsledky vyhledávání - "Danielle Conforto"

Myoclonus in a patient with a deletion of the ?-sarcoglycan locus on chromosome 7q21

Autor: Elaine H. Zackai, Ralph J. DeBerardinis, Beverly S. Emanuel, Jennifer H. Kaplan, Danielle Conforto, Peter R. Kollros, Karen L. Russell

Publikováno v: American Journal of Medical Genetics. :31-36

Autosomal dominant myoclonus-dystonia syndrome (MDS) is characterized by myoclonic and/or dystonic movements with onset as early as infancy. In most families, MDS is caused by mutations in the gene SGCE, which encodes epsilon -sarcoglycan and is loca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6018cf3294f5de095270617d513e3fc6
https://doi.org/10.1002/ajmg.a.20162

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Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-Year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX

Autor: Doris P. Dumont, Danielle Conforto, Fayaz Mawani, Boris G. Kousseff, Maxine J. Sutcliffe, Julia A. McFarland, Judith D. Ranells, O. Thomas Mueller

Publikováno v: American Journal of Medical Genetics. 102:192-199

We report on a 3.5-year-old girl with a mosaic karyotype including full trisomy 18, normal cells and a majority of cells with partial trisomy involving an extra chromosome 18 deleted at band q22. She had cardiac and CNS anomalies, dysmorphic facial f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e6b2f152a405f3d228649eb86586a96b
https://doi.org/10.1002/1096-8628(20010801)102:2<192::aid-ajmg1445>3.0.co

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Cell cycle and chromosome segregation defects in alzheimer's disease

Autor: Huntington Potter Potter, Lisa N. Geller, Ann E. Thomas, Danielle Conforto, Rossitza I. Chichkova

Publikováno v: Neurobiology of Aging. 21:224

Despite a common set of hallmark neuropathological lesions and clinical symptoms, Alzheimer’s disease has an apparently complex etiology. The disease can be caused by autosomal dominant mutations in at least three genes (encoding the amyloid precur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b1db7856dfbc6564827f9c0370f0e8eb
https://doi.org/10.1016/s0197-4580(00)83340-0

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