Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Joanna H. Fanos"'
Autor:
Melinda S. Kavanaugh, Danielle S. Dondanville, Andrea Hanson-Kahn, Joanna H. Fanos, Carly E. Siskind
Huntington’s disease (HD) is a predominantly adult-onset, genetic, neurodegenerative condition. Children of affected individuals have a 50% risk of inheriting HD and often assume caregiving roles for their parent. Studies specifically focused on HD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc8d54a47fa149db15ed96356f732ad
https://europepmc.org/articles/PMC6435781/
https://europepmc.org/articles/PMC6435781/
Autor:
Katharina Schwan, Rebecca M. Waggoner, Janey Youngblom, Kara Weisiger, Joanna H. Fanos, Jessica Kianmahd
Publikováno v:
International Journal of Neonatal Screening
Volume 5
Issue 4
Volume 5
Issue 4
X-linked adrenoleukodystrophy (ALD) is caused by gene variants in the ABCD1 gene, resulting in a varied clinical spectrum. Males with ALD present with symptoms ranging from isolated adrenal insufficiency and slowly progressive myelopathy to severe ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6726e740dbadabf9e7a27e143681679e
https://doi.org/10.3390/ijns5040042
https://doi.org/10.3390/ijns5040042
Autor:
Joanna H. Fanos
Publikováno v:
American Journal of Medical Genetics Part A. :284-293
Harry Shwachman, M.D., was Chief of the Division of Clinical Nutrition at Children's Hospital, Boston, which eventually became the largest Cystic Fibrosis (CF) center in the world. For over four decades he pioneered understanding of the disease and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db3362538a490577d8fe3ccfa1f79c8
https://doi.org/10.1002/ajmg.a.32113
https://doi.org/10.1002/ajmg.a.32113
Publikováno v:
Journal of genetic counseling. 25(6)
Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to asymptomatic at-risk individuals. Approximately half of the population undergoing predictiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84a5b7a42355d6e0462d71ed5e4eb2dd
https://pubmed.ncbi.nlm.nih.gov/27103420
https://pubmed.ncbi.nlm.nih.gov/27103420
Publikováno v:
Genetics in Medicine. 8:129-133
Purpose: Currently, the American Colleges of Medical Genetics and Obstetrics and Gynecology recommend screening in the prenatal setting only for individuals with specific family history indicators. Our aims were to study patient attitudes and psychol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd05a700938f85a5464ba2da00bc92e
https://doi.org/10.1097/01.gim.0000200158.66554.7f
https://doi.org/10.1097/01.gim.0000200158.66554.7f
Publikováno v:
American Journal of Medical Genetics. 98:46-56
X-linked severe combined immunodeficiency (XSCID) is the most common genetic form of SCID, a rare disease with profoundly impaired immunity. SCID was previously fatal but now can be treated by bone marrow transplantation. Mapping of XSCID in 1985 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::252ef167e4d099ef6fd38907bfb1f848
https://doi.org/10.1002/1096-8628(20010101)98:1<46::aid-ajmg1008>3.0.co
https://doi.org/10.1002/1096-8628(20010101)98:1<46::aid-ajmg1008>3.0.co
Autor:
Joanna H. Fanos
Publikováno v:
American Journal of Medical Genetics. 87:420-425
The ataxia-telangiectasia gene (designated ATM) has been identified by positional cloning. Retrospective studies in cystic fibrosis (CF) have shown that the illness and death of a sib have far-reaching ramifications on the surviving sib's life. Howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac73cef2c52647a135a096ae86f0c3d0
https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<420::aid-ajmg9>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<420::aid-ajmg9>3.0.co
Publikováno v:
American Journal of Medical Genetics. 87:413-419
The purpose of this study was to explore the impact of having a child with ataxia-telangiectasia (A-T) as well as to assess parental understanding of the genetics of A-T and attitudes toward carrier testing. Sixty-eight parents of individuals with A-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97b382fb87e621e87445aadacfffd015
https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<413::aid-ajmg8>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<413::aid-ajmg8>3.0.co
Autor:
Joanna H. Fanos, Richard A. Gatti
Publikováno v:
American Journal of Medical Genetics. 86:338-346
The ATM gene, mutated in ataxia-telangiectasia (A-T), was identified by positional cloning. The discovery of the ATM gene now allows the identification of A-T heterozygotes [Telatar et al., 1998], who may be at increased risk of cancer. The purpose o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a45ffecea3079960514be67ea5be94d
https://doi.org/10.1002/(sici)1096-8628(19991008)86:4<338::aid-ajmg8>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19991008)86:4<338::aid-ajmg8>3.0.co