Identification of the first homozygous 1‐bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing
França, M.M., Funari, M.F.A., Nishi, M.Y., Narcizo, A.M., Domenice, S., Costa, E.M.F., Lerario, A.M., Mendonca, B.B.
Published in Clinical genetics (01.02.2018)
Published in Clinical genetics (01.02.2018)
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Síndrome de persistencia del conducto de Müller debido a mutación en el gen del receptor de la hormona antimülleriana (AMHR2)
Orós-Millán, M. Eugenia, Muñoz-Calvo, M. Teresa, Nishi, Mirian Y, Bilharinho Mendonca, Berenice, Argente, Jesús
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.02.2017)
Published in Anales de pediatría (Barcelona, Spain : 2003) (01.02.2017)
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ORIGINAL ARTICLE: Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion
Abrao, M G, Leite, M V, Carvalho, L R, Billerbeck, AEC, Nishi, MY, Barbosa, A S, Martin, R M, Arnhold, IJP, Mendonca, B B
Published in Clinical endocrinology (Oxford) (01.09.2006)
Published in Clinical endocrinology (Oxford) (01.09.2006)
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Familial Hyperestrogenism in Both Sexes: Clinical, Hormonal, and Molecular Studies of Two Siblings
Martin, Regina M, Lin, Chin J, Nishi, Mirian Y, Billerbeck, Ana Elisa C, Latronico, Ana Claudia, Russell, David W, Mendonca, Berenice B
Published in The journal of clinical endocrinology and metabolism (01.07.2003)
Published in The journal of clinical endocrinology and metabolism (01.07.2003)
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A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency
BILLERBECK, A. E. C, BACHEGA, T. A. S. S, FRAZZATTO, E. T, NISHI, M. Y, GOLDBERG, A. C, MARIN, M. L. C, MADUREIRA, G, MONTE, O, ARNHOLD, I. J. P, MENDONCA, B. B
Published in The journal of clinical endocrinology and metabolism (01.08.1999)
Published in The journal of clinical endocrinology and metabolism (01.08.1999)
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Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method
Nishi, Mirian Y, Domenice, Sorahia, Medeiros, Maria Aparecida, Mendonca, Berenice B, Billerbeck, Ana Elisa C
Published in American journal of medical genetics (01.02.2002)
Published in American journal of medical genetics (01.02.2002)
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