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November 2012 - Volume 56 - Number 8
Especial Issue: Clinical & Molecular Endocrine Case Report
Arquivos Brasileiros de Endocrinologia e Metabologia. Regulares_ ISSN 0004-2730

Editorial

  • A special issue on molecular genetics in endocrinology
    Monalisa F. Azevedo, Regina S. Moisés, Sonir R. R. Antonini

Original Articles

  • Analysis of anti-Müllerian hormone (AMH ) and its receptor (AMHR2 ) genes in patients with persistent Müllerian duct syndrome
    Mirian Yumie Nishi, Sorahia Domenice, Andréa Trevas Maciel-Guerra, Alberto Zaba Neto, Marcia Alessandra Cavalaro Pereira da Silva, Elaine Maria Frade Costa, Gil Guerra-Junior, Berenice Bilharinho de Mendonca
  • Association of the rs7903146 single nucleotide polymorphism at the Transcription Factor 7-like 2 (TCF7L2) locus with type 2 diabetes in Brazilian subjects
    Gustavo Barcelos Barra, Ludmila Alves Sanches Dutra, Sílvia Conde Watanabe, Patrícia Godoy Garcia Costa, Patrícia Sales Marques da Cruz, Monalisa Ferreira Azevedo, Angélica Amorim Amato

Clinical Case Reports

  • Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene
    Maria Lúcia Corrêa-Giannella, Daniel Soares Freire, Ana Mercedes Cavaleiro, Maria Angela Zanella Fortes, Ricardo Rodrigues Giorgi, Maria Adelaide Albergaria Pereira
  • Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation
    Thais DellaManna, Magnus R. da Silva, Antonio Roberto Chacra, Ilda S. Kunii, Ana Luiza Rolim, Gilberto Furuzawa, Rui Monteiro de Barros Maciel, André Fernandes Reis
  • A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism
    Claudilene Battistin, Hamilton Cabral de Menezes Filho, Sorahia Domenice, Mirian Yumie Nishi, Thais Della Manna, Hilton Kuperman, Leandra Steinmetz, Vaê Dichtchekenian, Nuvarte Setian, Durval Damiani
  • Resistance to octreotide LAR in acromegalic patients with high SSTR2 expression: analysis of AIP expression
    Leandro Kasuki, Leandro M. Colli, Paula C. L. Elias, Margaret de Castro, Mônica R. Gadelha
  • Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma
    César Luiz Boguszewski, Tayane Muniz Fighera, Andressa Bornschein, Fabricio Machado Marques, Judit Dénes, Eleanor Rattenbery, Eamonn R. Maher, Karen Stals, Sian Ellard, Marta Korbonits
  • Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene
    Paula A. Scaglia, Ana Chiesa, Gabriela Bastida, Mirta Pacin, Horacio M. Domené, Laura Gruñeiro-Papendieck
  • Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects
    Lílian A. Caetano, Alexander A. L. Jorge, Alexsandra C. Malaquias, Ericka B. Trarbach, Márcia S. Queiroz, Márcia Nery, Milena G. Teles
  • Frasier syndrome: four new cases with unusual presentations
    Mara Sanches Guaragna, Anna Cristina Gervásio de Britto Lutaif, Viviane Barros Bittencourt, Cristiane Santos Cruz Piveta, Fernanda Caroline Soardi, Luiz Claudio Gonçalves Castro, Vera Maria Santoro Belangero, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior, Maricilda Palandi De Mello
  • Clinical and molecular spectrum of patients with 17b-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency
    Carla C. T. S. Castro, Guilherme G. Filho, Flavia L. Calais, Fernanda B. Coeli, Ianik R. L. Leal, Erisvaldo F. C. Junior, Isabella L. Monlleó, Silma R. F. Pereira, Roberto B. P. Silva, José R. E. Gabiatti, Antonia P. M. Faria, Andrea T. M. Guerra, Maricilda P. Mello, Gil Guerra-Junior
  • Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism
    Daiane Beneduzzi, Ericka B. Trarbach, Ana Claudia Latronico, Berenice Bilharinho de Mendonca, Letícia F. G. Silveira
  • The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies
    Andréa Trevas Maciel-Guerra, Juliana De Paulo, Ana Paula Santos, Guilherme Guaragna-Filho, Juliana Gabriel Ribeiro Andrade, Adriana Aparecida Siviero-Miachon, Ângela Maria Spinola-Castro, Gil Guerra-Júnior
  • MicroRNAs miR-146-5p and let-7f as prognostic tools for aggressive papillary thyroid carcinoma: a case report
    Murilo Vieira Geraldo, Cesar Seigi Fuziwara, Celso Ubirajara Moretto Friguglieti, Ricardo Borges Costa, Marco Aurélio Vamondes Kulcsar, Alex Shimura Yamashita, Edna Teruko Kimura
  • Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus
    Ana Keselman, Paula A. Scaglia, María Soledad Rodríguez Prieto, María Gabriela Ballerini, María Eugenia Rodríguez, María Gabriela Ropelato, Ignacio Bergadá, Héctor G. Jasper, Horacio M. Domené
  • Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
    Luciana A. de A. Secchi, Juliana F. Mazzeu, Mara Santos Córdoba, Íris Ferrari, Helton Estrela Ramos, Francisco de Assis Rocha Neves
  • Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis
    Claudia V. Chang, Sandro J. Conde, Renata A. M. Luvizotto, Vânia S. Nunes, Milla C. Bonates, Andre C. Felicio, Susan C. Lindsey, Flávia H. Moraes, José V. Tagliarini, Glaucia M. F. S. Mazeto, Peter Kopp, Célia R. Nogueira
  • Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism
    Patricia B. Mory, Marcia C. dos Santos, Claudio E. Kater, Regina S. Moisés
  • 46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene
    Guilherme G. Filho, Carla C. T. S. Castro, Rodrigo R. Carvalho, Fernanda B. Coeli, Lúcio F. C. Ferraz, Reginaldo J. Petroli, Maricilda P. Mello, Letícia E. Sewaybricker, Sofia H. V. L. Marini, Lilia F. R. D’Souza-Li, Márcio L.Miranda, Andréa T. M. Guerra, Gil Guerra-Junior
  • The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature
    Carla Brauner Blom, Lucieli Ceolin, Mirian Romitti, Débora Siqueira, Ana Luiza Maia
  • New mutation in the PTEN gene in a Brazilian patient with Cowden’s syndrome
    Erika U. de Lima, Iberê C. Soares, Debora L. S. Danilovic, Suemi Marui


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