Zobrazeno 1 - 10
of 12
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
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
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
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
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
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
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
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.
Autor:
Samango‐Sprouse, Carole A., Tran, Selena L., Lasutschinkow, Patricia C., Sadeghin, Teresa, Powell, Sherida, Mitchell, Francie L., Gropman, Andrea
Publikováno v:
American Journal of Medical Genetics. Part A; Aug2020, Vol. 182 Issue 8, p1881-1889, 9p
Autor:
Samango-Sprouse, Carole A., Tran, Selena L., Lasutschinkow, Patricia C., Sadeghin, Teresa, Powell, Sherida, Mitchell, Francie L., Gropman, Andrea
Publikováno v:
Obstetrical & Gynecological Survey; Jan2021, Vol. 76 Issue 1, p15-17, 3p