Výsledky vyhledávání - "Holly A, Ishmael"

Five new subjects with ring chromosome 22

Autor: Michael L. Begleiter, MJ Dasouki, Merlin G. Butler, Holly A. Ishmael, LM Pasztor, D Cataldi

Publikováno v: Clinical Genetics. 63:410-414

Ring chromosome 22, a rare cytogenetic finding, was first described by Weleber et al. in 1968. Since then approximately 50 patients have been reported in the medical literature. We describe five previously unreported subjects with ring chromosome 22

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fded2c77663fd951b2bfe36e588357cc
https://doi.org/10.1034/j.1399-0004.2003.00064.x

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Oculoauriculofrontonasal syndrome (OAFNS) in a nine-month-old male

Autor: Holly A. Ishmael, Michael L. Begleiter, Elizabeth J. Regier, Merlin G. Butler

Publikováno v: American Journal of Medical Genetics. 107:169-173

We report a nine-month-old Caucasian male with features seen in oculoauriculovertebral spectrum (OAVS) and frontonasal dysplasia sequence (FND) born to normal, non-consanguineous parents and review the literature. His malformations included a left pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35104ce6811fd8da606553639bfe5680
https://doi.org/10.1002/ajmg.10120

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Drowning as a cause of death in Angelman syndrome

Autor: Holly A, Ishmael, Michael L, Begleiter, Merlin G, Butler

Publikováno v: American journal of mental retardation : AJMR. 107(1)

Angelman syndrome is characterized by mental retardation, seizures, ataxia, inappropriate laughter, lack of speech, a particular facial appearance, and generally a chromosome 15q11-q13 deletion. Recently, a fascination with water and water-related ac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14b76676f5ba2d9a443ea32e7903cf26
https://pubmed.ncbi.nlm.nih.gov/10683706

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