Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Michael L. Begleiter"'
Publikováno v:
Genetics of Developmental Disabilities ISBN: 9780429264078
Genetics of Developmental Disabilities
Genetics of Developmental Disabilities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ba05e95f064e3ea4c49b4b649b9e70e
https://doi.org/10.1201/9780429264078-2
https://doi.org/10.1201/9780429264078-2
Publikováno v:
Genetic Testing. 11:296-302
Families affected by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were surveyed to elicit attitudes toward prenatal, presymptomatic and carrier testing, and newborn screening in order to determine the level of support that these familie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5eb8e09bb5d839fa5476d02faef0c82
https://doi.org/10.1089/gte.2007.0001
https://doi.org/10.1089/gte.2007.0001
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
https://doi.org/10.1034/j.1399-0004.2003.00064.x
Autor:
Michael L. Begleiter
Publikováno v:
Nature Reviews Genetics. 3:557-561
Genetic counsellors are uniquely trained to provide support, explanations and guidance to individuals or families who have been diagnosed with a genetic disorder. As our knowledge of the genetic basis of disease increases, so does our ability to diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f733829b3bff2962588e5ec13f8314a
https://doi.org/10.1038/nrg844
https://doi.org/10.1038/nrg844
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
https://doi.org/10.1002/ajmg.10120
Autor:
Holly H. Ardinger, Janda D. Buchholz, Molly M. Lund, Michael L. Begleiter, Andrea M. Atherton
Publikováno v:
American journal of medical genetics. Part A. 143(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8e5ef1bbc3165dd22687b9260a2eb42
https://pubmed.ncbi.nlm.nih.gov/17230492
https://pubmed.ncbi.nlm.nih.gov/17230492
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
https://pubmed.ncbi.nlm.nih.gov/10683706
Autor:
Brent E. Finley, Michael L. Begleiter
Publikováno v:
American Journal of Obstetrics and Gynecology. 211:81
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3eae5b7652e20267a3332f07364d30c2
https://doi.org/10.1016/j.ajog.2014.01.014
https://doi.org/10.1016/j.ajog.2014.01.014
Publikováno v:
Anesthesia and analgesia. 91(4)
We reviewed of a number of genetic diseases known or at risk for sedation or anesthesia complications. Some of these conditions are relatively common (e.g., Down's syndrome) whereas others are rare or present with multiple congenital anomalies that h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed97872ad4a2f6a16526b4e6ba1cea11
https://pubmed.ncbi.nlm.nih.gov/11004035
https://pubmed.ncbi.nlm.nih.gov/11004035
Autor:
Lee Z Mays, Michael L. Begleiter, Andrea M. Atherton, Molly M. Lund, Meghan E Strenk, Janda L Buchholz
Publikováno v:
Genetics in Medicine. 10:461
To the Editor: We read with interest and much concern the recent recommendation of the College regarding carrier screening in individuals of Ashkenazi Jewish (AJ) descent (Genet Med 2008;10: 54 –56). Specifically, we felt that Recommendation 4, “
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07754d222723237f5af92865d2cc7251
https://doi.org/10.1097/gim.0b013e318170f87e
https://doi.org/10.1097/gim.0b013e318170f87e