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Proceedings from the Turner Resource Network symposium: the crossroads of health care research and health care delivery.
Backeljauw PF, Bondy C, Chernausek SD, Cernich JT, Cole DA, Fasciano LP, Foodim J, Hawley S, Hong DS, Knickmeyer RC, Kruszka P, Lin AE, Lippe BM, Lorigan GA, Maslen CL, Mauras N, Page DC, Pemberton VL, Prakash SK, Quigley CA, Ranallo KC, Reiss AL, Sandberg DE, Scurlock C, Silberbach M. Backeljauw PF, et al. Among authors: lin ae. Am J Med Genet A. 2015 Sep;167A(9):1962-71. doi: 10.1002/ajmg.a.37121. Epub 2015 Apr 29. Am J Med Genet A. 2015. PMID: 25920614 Free PMC article.
45,X mosaicism in a population-based biobank: implications for Turner syndrome.
Prakash SK, Crenshaw ML, Backeljauw PF, Silberbach M, Scurlock C, Culin DD, Ranallo KC, Lin AE. Prakash SK, et al. Among authors: lin ae. Genet Med. 2019 Aug;21(8):1882-1883. doi: 10.1038/s41436-018-0411-z. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573796 Free article. No abstract available.
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
Lin AE, Prakash SK, Andersen NH, Viuff MH, Levitsky LL, Rivera-Davila M, Crenshaw ML, Hansen L, Colvin MK, Hayes FJ, Lilly E, Snyder EA, Nader-Eftekhari S, Aldrich MB, Bhatt AB, Prager LM, Arenivas A, Skakkebaek A, Steeves MA, Kreher JB, Gravholt CH. Lin AE, et al. Am J Med Genet A. 2019 Oct;179(10):1987-2033. doi: 10.1002/ajmg.a.61310. Epub 2019 Aug 16. Am J Med Genet A. 2019. PMID: 31418527
Further Delineation of Liver Involvement in Girls and Women with Turner Syndrome: Case Report of a 2-Year-Old with Liver Dysfunction and Review of Patients Followed in the MassGeneral Hospital Turner Syndrome Clinic.
Jafri RZ, McNamara EA, Snyder EA, Shah U, Singh I, Hayes FJ, Lin AE, Levitsky LL. Jafri RZ, et al. Among authors: lin ae. Horm Res Paediatr. 2019;92(5):328-334. doi: 10.1159/000502842. Epub 2019 Sep 27. Horm Res Paediatr. 2019. PMID: 31563903
An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.
Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. Gheewalla GM, et al. Among authors: lin ae. Am J Med Genet A. 2022 Oct;188(10):3084-3088. doi: 10.1002/ajmg.a.62915. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869926
313 results