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November 2010 - Volume 54 - Number 8
Especial Issue: Clinical & Molecular Endocrine (C&M) Case Reports
Arquivos Brasileiros de Endocrinologia e Metabologia. Regulares_ ISSN 0004-2730

Editorial

  • Bringing endocrine basic science and physician investigators together
    Magnus R. Dias da Silva, Alexander A. L. Jorge

Review

  • Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insightsi>
    Ana Luiza R. Rolim, Susan C. Lindsey, Ilda S. Kunii, Aline M. Fujikawa, Fernando A. Soares, Maria Izabel Chiamolera, Rui M. B. Maciel, Magnus R. Dias da Silva

Original Article

  • Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
    Marcio F. Vendramini, Lucimary C. Gurgel, Regina S. Mois�s

Clinical Case Reports

  • 46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
    Cresio Alves, Zilda Braid, Fernanda Borchers Coeli, Maricilda Palandi de Mello
  • Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy
    Gilberto Paz-Filho, Claudio Mastronardi, Tuncay Delibasi, Ma-Li Wong, Julio Licinio
  • Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening
    Leandro Kasuki Jomori de Pinho, Leonardo Vieira Neto, Luiz Eduardo Armondi Wildemberg, Aline Barbosa Moraes, Christina M. Takiya, Lawrence A. Frohman, Márta Korbonits, Mônica R. Gadelha
  • Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1
    Cesar Luiz Boguszewski, Leila Caroline Bianchet, Salmo Raskin, Luiz M. Nomura, Luis Alencar Borba, Teresa Cristina Santos Cavalcanti
  • Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazil
    Daiane Rodrigues Barbosa Belgini, Maricilda Palandi de Mello, Maria Tereza Matias Baptista, Daniel Minutti de Oliveira, Fernanda Canova Denardi, Heraldo Mendes Garmes, Oswaldo da Rocha Grassiotto, Cristina Laguna Benetti Pinto, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel-Guerra, Gil Guerra-
  • Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
    Amanda Salem Brasil, Alexsandra C. Malaquias, Luciana Turolla Wanderley, Chong Ae Kim, José Eduardo Krieger, Alexander A. L. Jorge, Alexandre C. Pereira, Débora Romeo Bertola
  • Thyroid hormone resistance detected by routine neonatal screening
    Léa Maria Zanini Maciel, Patrícia Künzle Ribeiro Magalhães
  • A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels
    Mariana Tenorio Antunes Reis, Andreina Cattani, Berenice Bilharinho Mendonca, Pedro Henrique Silveira Corrêa, Regina Matsunaga Martin
  • Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
    Solange Caires Neves, Paola Rossi Mezalira, Vera M. A. Dias, Antonio J. Chagas, Maria Viana, Hector Targovnik, Meyer Knobel, Geraldo Medeiros-Neto, Ileana G. S. Rubio
  • Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation
    Fernanda Caroline Soardi, Adriana Mangue Esquiaveto-Aun, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Maricilda Palandi de-Mello
  • Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient
    Fabíola Costenaro, Ticiana C. Rodrigues, Claudio E. Kater, Richard J. Auchus, Mahboubeh Papari-Zareei, Mauro A. Czepielewski
  • Novel DMRT1 3’UTR+11insT mutation associated to XY partial gonadal dysgenesis
    Maricilda Palandi de Mello, Fernanda Borchers Coeli, Juliana Godoy Assumpção, Tammy Mazeo Castro, Andréa Trevas Maciel-Guerra, Antônia Paula Marques-de-Faria, Maria Tereza Matias Baptista, Gil Guerra-Júnior
  • Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1
    Helena C. Fabbri, Maricilda P. de Mello, Fernanda C. Soardi, Adriana M. Esquiaveto-Aun, Daniel M. de Oliveira, Fernanda C. Denardi, Arnaldo Moura-Neto, Heraldo M. Garmes, Maria Tereza M. Baptista, Patrícia S. de Matos, Sofia Helena V. de Lemos-Marini, Lilia F. R. D’Souza-Li, Gil Guerra-Júnior
  • Aggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein (AIP) gene
    Luciana Ansaneli Naves, Marie-Lise Jaffrain-Rea, Sergio Alberto Cunha Vêncio, Clausmir Zaneti Jacomini, Luiz Augusto Casulari, Adrian F. Daly, Albert Beckers
  • Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia
    Ana Letícia Gori Lusa, Sofia Helena Valente de Lemos-Marini, Fernanda Caroline Soardi, Lucio Fabio Caldas Ferraz, Gil Guerra-Júnior, Maricilda Palandi de Mello


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