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pro vyhledávání: '"Michelle Rivera-Davila"'
Publikováno v:
Rare Disease and Orphan Drugs Journal. 2:4
Aim: Turner Syndrome (TS) is caused by partial or complete absence of the second sex chromosome in a phenotypic female. TS is associated with recognizable congenital anomalies and chronic health conditions. The principal objective of this study was t
Publikováno v:
Abstracts.
Autor:
Shahla Nader-Eftekhari, Marcie A. Steeves, Frances J. Hayes, Mette H Viuff, Mary K. Colvin, Lars Kjærsgaard Hansen, Jeffrey B Kreher, Emma A Snyder, Ana Arenivas, Melissa Crenshaw, Laura M. Prager, Ami B. Bhatt, Angela E. Lin, Melissa B. Aldrich, Claus Højbjerg Gravholt, Michelle Rivera-Davila, Niels Holmark Andersen, Lynne L. Levitsky, Evelyn Lilly, Anne Skakkebæk, Siddharth K. Prakash
Publikováno v:
Lin, A E, Prakash, S K, Andersen, N H, Viuff, M H, Levitsky, L L, Rivera-Davila, M, Crenshaw, M L, Hansen, L, Colvin, M K, Hayes, F J, Lilly, E, Snyder, E A, Nader-Eftekhari, S, Aldrich, M B, Bhatt, A B, Prager, L M, Arenivas, A, Skakkebaek, A, Steeves, M A, Kreher, J B & Gravholt, C H 2019, ' Recognition and management of adults with Turner syndrome : From the transition of adolescence through the senior years ', American Journal of Medical Genetics, Part A, vol. 179, no. 10, pp. 1987-2033 . https://doi.org/10.1002/ajmg.a.61310
Lin, A E, Prakash, S K, Viuff, M H, Levitsky, L L, Rivera-Davila, M, Crenshaw, M L, Hansen, L, Colvin, M K, Hayes, F J, Lilly, E, Snyder, E A, Nader-Eftekhari, S, Aldrich, M B, Bhatt, A B, Prager, L M, Arenivas, A, Skakkebaek, A, Steeves, M A, Kreher, J B & Gravholt, C H 2019, ' Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.61310
Lin, A E, Prakash, S K, Andersen, N H, Viuff, M H, Levitsky, L L, Rivera-Davila, M, Crenshaw, M L, Hansen, L, Colvin, M K, Hayes, F J, Lilly, E, Snyder, E A, Nader-Eftekhari, S, Aldrich, M B, Bhatt, A B, Prager, L M, Arenivas, A, Skakkebaek, A, Steeves, M A, Kreher, J B & Gravholt, C H 2019, ' Recognition and management of adults with Turner syndrome : From the transition of adolescence through the senior years ', American Journal of Medical Genetics. Part A, vol. 179, no. 10, pp. 1987-2033 . https://doi.org/10.1002/ajmg.a.61310
Lin, A E, Prakash, S K, Viuff, M H, Levitsky, L L, Rivera-Davila, M, Crenshaw, M L, Hansen, L, Colvin, M K, Hayes, F J, Lilly, E, Snyder, E A, Nader-Eftekhari, S, Aldrich, M B, Bhatt, A B, Prager, L M, Arenivas, A, Skakkebaek, A, Steeves, M A, Kreher, J B & Gravholt, C H 2019, ' Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.61310
Lin, A E, Prakash, S K, Andersen, N H, Viuff, M H, Levitsky, L L, Rivera-Davila, M, Crenshaw, M L, Hansen, L, Colvin, M K, Hayes, F J, Lilly, E, Snyder, E A, Nader-Eftekhari, S, Aldrich, M B, Bhatt, A B, Prager, L M, Arenivas, A, Skakkebaek, A, Steeves, M A, Kreher, J B & Gravholt, C H 2019, ' Recognition and management of adults with Turner syndrome : From the transition of adolescence through the senior years ', American Journal of Medical Genetics. Part A, vol. 179, no. 10, pp. 1987-2033 . https://doi.org/10.1002/ajmg.a.61310
Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f953ad7327695e5078885a2a23fa4afd
https://pure.au.dk/portal/da/publications/recognition-and-management-of-adults-with-turner-syndrome(2c7785fa-0327-4602-affe-216f15deee8a).html
https://pure.au.dk/portal/da/publications/recognition-and-management-of-adults-with-turner-syndrome(2c7785fa-0327-4602-affe-216f15deee8a).html
Autor:
Nunilo Rubio, Avni Shah, Paul Kruszka, Soniely Lugo‐Ruiz, Cheryl L. Maslen, Vaneeta Bamba, Shanlee M Davis, Michelle Rivera-Davila, Michael Silberbach, Gary A. Lorigan, Melissa Crenshaw, Karen Rubin, Rebecca C. Knickmeyer, Siddharth K. Prakash, Aaron T. Dorfman, Cindy Scurlock
Publikováno v:
Am J Med Genet C Semin Med Genet
To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a patient-powered registry for girls and women with TS. More th
Publikováno v:
European journal of medical genetics. 60(7)
Marshall-Smith Syndrome (MRSHSS) is a very rare genetic disorder characterized by failure to thrive and characteristic dysmorphic features associated with accelerated osseous maturation. We present a nine-year-old girl who was diagnosed with MRSHSS b