Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Francie L. Mitchell"'
Autor:
Carole A. Samango-Sprouse, Austin P. Gillies, Andrea L. Gropman, Patricia Hendrie, Grace F. Porter, Francie L. Mitchell, Laura L. Tosi, Patricia C. Lasutschinkow, Selena L. Tran, Leigh Ruland, Elmer N. Rajah, Rick Peret, Teresa Sadeghin
Publikováno v:
American Journal of Medical Genetics Part A. 185:3531-3540
49,XXXXY is the rarest X and Y chromosomal variation, with an incidence of 1 in 80,000-100,000 live male births and has been associated with numerous musculoskeletal abnormalities. Data was collected from an international cohort of boys with 49,XXXXY
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f7e827e9c7ee45ac1d84713da6d9a6b
https://doi.org/10.1002/ajmg.a.61578
https://doi.org/10.1002/ajmg.a.61578
Autor:
Sherida Powell, Patricia Hendrie, Patricia C. Lasutschinkow, Francie L. Mitchell, Carole A. Samango-Sprouse, Grace F. Porter, Andrea L. Gropman, Teresa Sadeghin
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(12)
49,XXXXY is a rare chromosomal variation characterized by deficits in motor, language, and cognitive domains. This study reports on the neurological function and dysmorphic features in the largest cohort to date. Seventy-two boys with 49,XXXXY were e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::167227c73bb3a319ccf5b4b3bf4e6692
https://pubmed.ncbi.nlm.nih.gov/32656941
https://pubmed.ncbi.nlm.nih.gov/32656941
Autor:
Sherida Powell, Carole A. Samango-Sprouse, Francie L. Mitchell, Teresa Sadeghin, Andrea L. Gropman, Patricia C. Lasutschinkow, Selena L. Tran
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(8)
This cross-sectional study examined the neurodevelopment of a large, prenatally diagnosed population of boys with 47,XXY; investigated the potentially positive effects of early hormonal therapy (EHT) on language, cognition, and motor in this populati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caf8a9f2ada1bb3aa1889c188980568f
https://pubmed.ncbi.nlm.nih.gov/32220052
https://pubmed.ncbi.nlm.nih.gov/32220052
Autor:
Andrea L. Gropman, Emily Stapleton, Carole A. Samango-Sprouse, Teresa Sadeghin, Francie L. Mitchell, Thomas P. Donahue
Publikováno v:
American Journal of Medical Genetics Part A. 164:1464-1469
The aim of the study was to examine the impact of familial learning disabilities (FLD) on the phenotypic profile of 47, XXY (Klinefelter syndrome) males and the possibility that 47, XXY males with more severe cognitive deficits may be partially a con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b30aa4f5d0cba4f5342e240698139a9
https://doi.org/10.1002/ajmg.a.36483
https://doi.org/10.1002/ajmg.a.36483
Autor:
Iris Paltin, Avi Madan-Swain, Alyssa Reddy, Karin S. Walsh, Francie L. Mitchell, Nina Reynolds, Kelly R. Wolfe
Publikováno v:
Child Neuropsychology. 19:370-384
Medical advances have resulted in increased survival rates for children with brain tumors. Consequently, issues related to survivorship have become more critical. The use of multimodal treatment, in particular cranial radiation therapy, has been asso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a1905450fac221eaba63da4d5a9bfc
https://doi.org/10.1080/09297049.2012.669470
https://doi.org/10.1080/09297049.2012.669470
Autor:
Emily Stapleton, Rick Peret, Francie L. Mitchell, Laura L. Tosi, Kathryn Haskell, Courtney Sprouse, Carole A. Samango-Sprouse, Andrea L. Gropman, Teresa Sadeghin
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 163:44-49
49, XXXXY is a rare aneuploidy and variant of Klinefelter syndrome, occurring in 1 per 80,000-100,000 live births. We present a cohort of 40 affected males, focusing on musculoskeletal problems. Subjects were participants in an annual 49er family sup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::609900021ed3b6dbbfc77f49ac0d45f1
https://doi.org/10.1002/ajmg.c.31354
https://doi.org/10.1002/ajmg.c.31354
Autor:
Sherida Powell, Teresa Sadeghin, Carole A. Samango-Sprouse, Patrick Lawson, Francie L. Mitchell, Andrea L. Gropman, Emily Stapleton
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. 169(2)
47, XXY occurs in up to 1 in 650 male births and is associated with androgen deficiency, neurodevelopmental delays, and atypical social-behaviors. Previously, we showed that young boys with 47, XXY who received early hormonal therapy (EHT) had signif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a139c629b17d70c59ec119c3a1397ec
https://pubmed.ncbi.nlm.nih.gov/25939399
https://pubmed.ncbi.nlm.nih.gov/25939399
Autor:
Teresa Sadeghin, Colleen Keen, Carole A. Samango-Sprouse, Francie L. Mitchell, Andrea L. Gropman
Publikováno v:
American journal of medical genetics. Part A. (10)
Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69e0681a24a28f40bfbf244ac26ef635
https://pubmed.ncbi.nlm.nih.gov/26086740
https://pubmed.ncbi.nlm.nih.gov/26086740