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Material Type: Artigo
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Mobile DNA in Endocrinology: LINE-1 retrotransposon causing Partial Androgen Insensitivity SyndromeBatista, Rafael Loch ; Yamaguchi, Katsumi ; di Santi Rodrigues, Andresa ; Nishi, Mirian Yumie ; Goodier, John L ; Carvalho, Luciani Renata ; Domenice, Sorahia ; Costa, Elaine M F ; Hazazian, Haig ; Mendonca, Berenice BilharinhoThe journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.6385-6390 [Periódico revisado por pares]United States: Copyright Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Variable ACTH-stimulated 17-Hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutationsTânia A. S. S. Bachega Enecy M. L Brenlha; Ana E. C Billerbeck; José A. M Marcondes; Guiomar Madureira; Ivo J. P Arnhold; Berenice B MendonçaThe Journal of Clinical Endocrinology & Metabolism Bethesda v. 87, n. 2, p. 786-790, 2002Bethesda 2002Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Three novel mutations in CYP21 gene in brazilian patients with the classical form of 21-hydroxylase deficiency due to founder effectAna Elisa C. Billerbeck Berenice B Mendonça; Emilia M Pinto; Guiomar Madureira; Ivo J. P Arnhold; Tânia A. S. S BachegaThe Journal of Clinical Endocrinology & Metabolism Bethesda v. 87, n. 9, p. 4314-4317, 2002Bethesda 2002Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genesMaria Geralda F. Osorio Suemi Marui; Alexander A. L Jorge; Ana C Latronico; Leonard S. S Lo; Claudia C Leite; Vivian Estefan; Berenice B Mendonça; Ivo J. P ArnholdThe Journal of Clinical Endocrinology & Metabolism Bethesda v. 87, n. 11, p. 5076-5084, 2002Bethesda 2002Localização: FMRAD - Fac. Medicina-Depto. Radiologia (SEP 23/2002 )(Acessar) |
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Material Type: Artigo
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Compound Heterozygous Mutations in the Thyroglobulin Gene (1143delC and 6725G→A [R2223H]) Resulting in Fetal Goitrous HypothyroidismCaron, Philippe ; Moya, Christian M ; Malet, David ; Gutnisky, Viviana J ; Chabardes, Bernard ; Rivolta, Carina M ; Targovnik, Héctor MThe journal of clinical endocrinology and metabolism, 2003-08, Vol.88 (8), p.3546-3553 [Periódico revisado por pares]United States: Endocrine SocietyTexto completo disponível |
6 |
Material Type: Artigo
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Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex DevelopmentBatista, Rafael Loch ; Inácio, Marlene ; Arnhold, Ivo Jorge Prado ; Gomes, Nathália Lisboa ; Faria, José Antônio Diniz ; de Moraes, Daniela Rodrigues ; Costa, Elaine Maria Frade ; Domenice, Sorahia ; Mendonça, Berenice BilharinhoThe journal of clinical endocrinology and metabolism, 2019-04, Vol.104 (4), p.1160-1170 [Periódico revisado por pares]Washington, DC: Endocrine SocietyTexto completo disponível |
7 |
Material Type: Artigo
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Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short StatureVasques, Gabriela A ; Amano, Naoko ; Docko, Ana J ; Funari, Mariana F. A ; Quedas, Elisangela P. S ; Nishi, Mirian Y ; Arnhold, Ivo J. P ; Hasegawa, Tomonobu ; Jorge, Alexander A. LThe journal of clinical endocrinology and metabolism, 2013-10, Vol.98 (10), p.E1636-E1644 [Periódico revisado por pares]United States: Endocrine SocietyTexto completo disponível |
8 |
Material Type: Artigo
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An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated LipodystrophyGarg, Abhimanyu ; Hernandez, Maria Dolores ; Sousa, Ana Berta ; Subramanyam, Lalitha ; Martínez de Villarreal, Laura ; dos Santos, Heloísa G ; Barboza, OraliaThe journal of clinical endocrinology and metabolism, 2010-09, Vol.95 (9), p.E58-E63 [Periódico revisado por pares]United States: Endocrine SocietyTexto completo disponível |
9 |
Material Type: Artigo
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The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in HepatocytesCenarro, Ana ; Etxebarria, Aitor ; de Castro-Orós, Isabel ; Stef, Marianne ; Bea, Ana M ; Palacios, Lourdes ; Mateo-Gallego, Rocío ; Benito-Vicente, Asier ; Ostolaza, Helena ; Tejedor, Teresa ; Martín, César ; Civeira, FernandoThe journal of clinical endocrinology and metabolism, 2016-05, Vol.101 (5), p.2113-2121 [Periódico revisado por pares]United States: Endocrine SocietyTexto completo disponível |
10 |
Material Type: Artigo
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Mutations of the KISS1 Gene in Disorders of PubertySilveira, L. G ; Noel, S. D ; Silveira-Neto, A. P ; Abreu, A. P ; Brito, V. N ; Santos, M. G ; Bianco, S. D. C ; Kuohung, W ; Xu, S ; Gryngarten, M ; Escobar, M. E ; Arnhold, I. J. P ; Mendonca, B. B ; Kaiser, U. B ; Latronico, A. CThe journal of clinical endocrinology and metabolism, 2010-05, Vol.95 (5), p.2276-2280 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |