Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Ann C. M. Smith"'
Autor:
Nancy Raitano Lee, Xin Niu, Fengqing Zhang, Liv S. Clasen, Beth A. Kozel, Ann C. M. Smith, Gregory L. Wallace, Armin Raznahan
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks
Externí odkaz:
https://doaj.org/article/41a3951c7ec64f10974ee2ad0c55b117
Autor:
Cathy D. Vocke, Leah R. Fleming, Anna M. Piskorski, Ali Amin, Chanika Phornphutkul, Suzanne de la Monte, Thierry Vilboux, Folami Duncan, Joan Pellegrino, Bonnie Braddock, Lindsay A. Middelton, Laura S. Schmidt, Maria J. Merino, Edward W. Cowen, Wendy J. Introne, W. Marston Linehan, Ann C. M. Smith
Publikováno v:
Am J Med Genet A
We report a series of four unrelated adults with Smith-Magenis syndrome (SMS) and concomitant features of Birt-Hogg-Dubé (BHD) syndrome based upon haploinsufficiency for FLCN and characteristic renal cell carcinomas and/or evidence of cutaneous fibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d0a647de25a4ef258be2894749b511
https://europepmc.org/articles/PMC10117402/
https://europepmc.org/articles/PMC10117402/
Autor:
Ann C. M. Smith, Andrea L. Gropman
Publikováno v:
Cassidy and Allanson's Management of Genetic Syndromes. :863-893
Smith-Magenis syndrome is a multisystem, multiple congenital anomaly/mental retardation syndrome caused by an interstitial deletion of chromosome 17p11.2. Many cases have been identified worldwide from a diversity of ethnic groups. The diagnosis is b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::300bd2d916a4dd3fc4e8c5749d9ab085
https://doi.org/10.1002/9781119432692.ch54
https://doi.org/10.1002/9781119432692.ch54
Autor:
Nancy Raitano, Lee, Xin, Niu, Fengqing, Zhang, Liv S, Clasen, Beth A, Kozel, Ann C M, Smith, Gregory L, Wallace, Armin, Raznahan
Publikováno v:
Translational psychiatry. 12(1)
Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::15607bcb9d11ee8d368f3f7129ed5448
https://pubmed.ncbi.nlm.nih.gov/35393403
https://pubmed.ncbi.nlm.nih.gov/35393403
Publikováno v:
Journal of genetic counseling. 9(1)
We conducted an exploratory, qualitative pilot study investigating the use of genetic counseling and prenatal genetic technologies between women and their male partners for two referral groups: pregnant women 35 years of age and over (AMA) at the tim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b253353a7e4cf8c81f40a1ba28e3f09
https://pubmed.ncbi.nlm.nih.gov/26141083
https://pubmed.ncbi.nlm.nih.gov/26141083
Publikováno v:
Journal of Autism and Developmental Disorders. 36:541-552
Children with Smith-Magenis Syndrome (SMS) exhibit deficits in adaptive behavior but systematic studies using objective measures are lacking. This descriptive study assessed adaptive functioning in 19 children with SMS using the Vineland Adaptive Beh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ed7f58c3c08bd661279abb8e339b93
https://doi.org/10.1007/s10803-006-0093-2
https://doi.org/10.1007/s10803-006-0093-2
Publikováno v:
Journal of Genetic Counseling. 9:203-217
We conducted an exploratory, qualitative study investigating the factors influencing the use of genetic counseling and prenatal genetic testing for two groups: pregnant women 35 years of age and over (AMA) at the time of delivery and pregnant women w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::894854da60947621a57c24ecf4a4d2fd
https://doi.org/10.1023/a:1009411920987
https://doi.org/10.1023/a:1009411920987
Autor:
Ann C. M. Smith, Regina Kenen
Publikováno v:
Journal of Genetic Counseling. 4:115-124
Currently, two trends pose particular challenges for genetic counseling: (1) spin offs from the Human Genome Project leading to new diagnostic genetic tests far in advance of any cures; and (2) an increasing and diversified client population. These t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4bf8821de4287d9fadffdcf30614cb5
https://doi.org/10.1007/bf01408634
https://doi.org/10.1007/bf01408634
Publikováno v:
Journal of Autism and Developmental Disorders. 24:619-629
Treated persistent ruminative vomiting of a 15-year-old boy with autism using a multicomponent behavioral medicine program within a residential facility. Preceding intervention the boy had lost 15 pounds associated with high-rate ruminating. The trea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::253ca06641ac5ae22e0dae89a7d107ef
https://doi.org/10.1007/bf02172142
https://doi.org/10.1007/bf02172142
Autor:
Eva Sujansky, Karen E. Prescott, Carol L. Clericuzio, Arthur Robinson, Ann C. M. Smith, Cynthia Freehauf
Publikováno v:
American Journal of Medical Genetics. 47:512-525
The recombinant 8 [Rec(8)] syndrome [rec(8), (8qter8q22.1::8p23.18qter] is due to a parental inv(8)(8pter8p23.1::8q22.18p23.1::8q22.18qter). All inv(8) parents we have studied were of Hispanic origin. The Rec(8) phenotype consists of a characteristic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdda2a1e28b8edb7924623bf50144683
https://doi.org/10.1002/ajmg.1320470415
https://doi.org/10.1002/ajmg.1320470415