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Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, Moreno F, Bereket A, Akcay T, García-García E, Muñoz MT, Gracia R, Nistal M, Castaño L, Mullis PE, Carrascosa A, Audí L, Flück CE. Camats N, et al. Among authors: nistal m. J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306. doi: 10.1210/jc.2011-3169. Epub 2012 May 1. J Clin Endocrinol Metab. 2012. PMID: 22549935 Free article.
Idiopathic testicular microlithiasis: ultrastructural study.
Moran JM, Moreno F, Climent V, Nistal M. Moran JM, et al. Among authors: nistal m. Br J Urol. 1993 Aug;72(2):252-3. doi: 10.1111/j.1464-410x.1993.tb00702.x. Br J Urol. 1993. PMID: 8402037 No abstract available.
[Wolman's disease. Acute infantil form (author's transl)].
Lajo A, Gracia R, Navarro M, Nistal M, Rabadan B. Lajo A, et al. Among authors: nistal m. An Esp Pediatr. 1974 Sep-Oct;7(5):438-46. An Esp Pediatr. 1974. PMID: 4458572 Spanish. No abstract available.
An XX male with an intratubular undifferentiated germ cell neoplasia.
Carcavilla A, Alonso M, Ezquieta B, García-Galloway E, Barrio R, Nistal M. Carcavilla A, et al. Among authors: nistal m. Fertil Steril. 2008 Nov;90(5):2005.e3-5. doi: 10.1016/j.fertnstert.2008.07.001. Epub 2008 Aug 13. Fertil Steril. 2008. PMID: 18701099 Free article.
[Klinefelter's syndrome in prepubertal age (author's transl)].
Gracia R, Martín Alvarez L, Figols J, Lledó G, Nistal M, Barreiro E. Gracia R, et al. Among authors: nistal m. An Esp Pediatr. 1974 Nov-Dec;7(6):510-23. An Esp Pediatr. 1974. PMID: 4458577 Spanish. No abstract available.
333 results