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The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. Persani L, et al. Among authors: mcgowan r. Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36228316 Free PMC article.
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’.
Audi L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R; The EU COST Action. Audi L, et al. Among authors: mcgowan r. Eur J Endocrinol. 2018 Oct 1;179(4):R197-R206. doi: 10.1530/EJE-18-0256. Eur J Endocrinol. 2018. PMID: 30299888 Free PMC article. Review.
The Use of Genetics for Reaching a Diagnosis in XY DSD.
Ahmed SF, Alimusina M, Batista RL, Domenice S, Lisboa Gomes N, McGowan R, Patjamontri S, Mendonca BB. Ahmed SF, et al. Among authors: mcgowan r. Sex Dev. 2022;16(2-3):207-224. doi: 10.1159/000524881. Epub 2022 May 30. Sex Dev. 2022. PMID: 35636390 Free article. Review.
274 results