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Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis.
Mello MP, Coeli FB, Assumpção JG, Castro TM, Maciel-Guerra AT, Marques-de-Faria AP, Baptista MT, Guerra-Júnior G. Mello MP, et al. Among authors: assumpcao jg. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):749-53. doi: 10.1590/s0004-27302010000800015. Arq Bras Endocrinol Metabol. 2010. PMID: 21340164
OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences.
Barros BA, Moraes SG, Coeli FB, Assumpção JG, De Mello MP, Maciel-Guerra AT, Carvalho AB, Viguetti-Campos N, Vieira TA, Amstalden EM, Andrade JG, Esquiaveto-Aun AM, Marques-de-Faria AP, D'Souza-Li LF, Lemos-Marini SH, Guerra G Jr. Barros BA, et al. Among authors: assumpcao jg. Hum Reprod. 2011 Dec;26(12):3450-5. doi: 10.1093/humrep/der310. Epub 2011 Sep 19. Hum Reprod. 2011. PMID: 21930534
The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.
Guaragna MS, Soardi FC, Assumpção JG, Zambaldi Lde J, Cardinalli IA, Yunes JA, de Mello MP, Brandalise SR, Aguiar Sdos S. Guaragna MS, et al. Among authors: assumpcao jg. J Pediatr Hematol Oncol. 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d. J Pediatr Hematol Oncol. 2010. PMID: 20562648
23 results