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Arquivos Brasileiros de Endocrinologia & Metabologia
On-line version ISSN 1677-9487

 

Table of contents
Arq Bras Endocrinol Metab vol.56 no.8 São Paulo Nov. 2012

 Editorial
  
 ·  Special issue on molecular genetics in endocrinology
Azevedo, Monalisa F.; Moisés, Regina S.; Antonini, Sonir R. R.

        · text in English     · English ( pdf )
  
 Original Articles
  
 ·  Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome
Nishi, Mirian Yumie; Domenice, Sorahia; Maciel-Guerra, Andréa Trevas; Zaba Neto, Alberto; Silva, Marcia Alessandra Cavalaro Pereira da; Costa, Elaine Maria Frade; Guerra-Junior, Gil; Mendonca, Berenice Bilharinho de

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Association of the rs7903146 single nucleotide polymorphism at the Transcription Factor 7-like 2 (TCF7L2) locus with type 2 diabetes in Brazilian subjects
Barra, Gustavo Barcelos; Dutra, Ludmila Alves Sanches; Watanabe, Sílvia Conde; Costa, Patrícia Godoy Garcia; Cruz, Patrícia Sales Marques da; Azevedo, Monalisa Ferreira; Amato, Angélica Amorim

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 Case Reports
  
 ·  Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene
Corrêa-Giannella, Maria Lúcia; Freire, Daniel Soares; Cavaleiro, Ana Mercedes; Fortes, Maria Angela Zanella; Giorgi, Ricardo Rodrigues; Pereira, Maria Adelaide Albergaria

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation
DellaManna, Thais; Silva, Magnus R. da; Chacra, Antonio Roberto; Kunii, Ilda S.; Rolim, Ana Luiza; Furuzawa, Gilberto; Maciel, Rui Monteiro de Barros; Reis, André Fernandes

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism
Battistin, Claudilene; Menezes Filho, Hamilton Cabral de; Domenice, Sorahia; Nishi, Mirian Yumie; Della Manna, Thais; Kuperman, Hilton; Steinmetz, Leandra; Dichtchekenian, Vaê; Setian, Nuvarte; Damiani, Durval

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Resistance to octreotide LAR in acromegalic patients with high SSTR2 expression: analysis of AIP expression
Kasuki, Leandro; Colli, Leandro M.; Elias, Paula C. L.; Castro, Margaret de; Gadelha, Mônica R.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma
Boguszewski, César Luiz; Fighera, Tayane Muniz; Bornschein, Andressa; Marques, Fabricio Machado; Dénes, Judit; Rattenbery, Eleanor; Maher, Eamonn R.; Stals, Karen; Ellard, Sian; Korbonits, Marta

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene
Scaglia, Paula A.; Chiesa, Ana; Bastida, Gabriela; Pacin, Mirta; Domené, Horacio M.; Gruñeiro-Papendieck, Laura

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects
Caetano, Lílian A.; Jorge, Alexander A. L.; Malaquias, Alexsandra C.; Trarbach, Ericka B.; Queiroz, Márcia S.; Nery, Márcia; Teles, Milena G.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Frasier syndrome: four new cases with unusual presentations
Guaragna, Mara Sanches; Lutaif, Anna Cristina Gervásio de Britto; Bittencourt, Viviane Barros; Piveta, Cristiane Santos Cruz; Soardi, Fernanda Caroline; Castro, Luiz Claudio Gonçalves; Belangero, Vera Maria Santoro; Maciel-Guerra, Andréa Trevas; Guerra-Junior, Gil; De Mello, Maricilda Palandi

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency
Castro, Carla Cristina Telles de Sousa; Guaragna-Filho, Guilherme; Calais, Flavia Leme; Coeli, Fernanda Borchers; Leal, Ianik Rafaela Lima; Cavalcante-Junior, Erisvaldo Ferreira; Monlleó, Isabella Lopes; Pereira, Silma Regina Ferreira; Silva, Roberto Benedito de Paiva e; Gabiatti, José Roberto Erbolato; Marques-de-Faria, Antonia Paula; Maciel-Guerra, Andrea Trevas; De Mello, Maricilda Palandi; Guerra-Junior, Gil

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism
Beneduzzi, Daiane; Trarbach, Ericka B.; Latronico, Ana Claudia; Mendonca, Berenice Bilharinho de; Silveira, Letícia F. G.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies
Maciel-Guerra, Andréa Trevas; De Paulo, Juliana; Santos, Ana Paula; Guaragna-Filho, Guilherme; Andrade, Juliana Gabriel Ribeiro; Siviero-Miachon, Adriana Aparecida; Spinola-Castro, Ângela Maria; Guerra-Júnior, Gil

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  MicroRNAs miR-146-5p and let-7f as prognostic tools for aggressive papillary thyroid carcinoma: a case report
Geraldo, Murilo Vieira; Fuziwara, Cesar Seigi; Friguglieti, Celso Ubirajara Moretto; Costa, Ricardo Borges; Kulcsar, Marco Aurélio Vamondes; Yamashita, Alex Shimura; Kimura, Edna Teruko

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus
Keselman, Ana; Scaglia, Paula A.; Rodríguez Prieto, María Soledad; Ballerini, María Gabriela; Rodríguez, María Eugenia; Ropelato, María Gabriela; Bergadá, Ignacio; Jasper, Héctor G.; Domené, Horacio M.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
Secchi, Luciana A. de A.; Mazzeu, Juliana F.; Córdoba, Mara Santos; Ferrari, Íris; Ramos, Helton Estrela; Neves, Francisco de Assis Rocha

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis
Chang, Claudia V.; Conde, Sandro J.; Luvizotto, Renata A. M.; Nunes, Vânia S.; Bonates, Milla C.; Felicio, Andre C.; Lindsey, Susan C.; Moraes, Flávia H.; Tagliarini, José V.; Mazeto, Glaucia M. F. S.; Kopp, Peter; Nogueira, Célia R.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism
Mory, Patricia B.; Santos, Marcia C. dos; Kater, Claudio E.; Moisés, Regina S.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene
Guaragna-Filho, Guilherme; Castro, Carla Cristina Telles de Sousa; De Carvalho, Rodrigo Ribeiro; Coeli, Fernanda Borchers; Ferraz, Lúcio Fábio Caldas; Petroli, Reginaldo José; De Mello, Maricilda Palandi; Sewaybricker, Letícia Esposito; Lemos-Marini, Sofia Helena Valente; D'Souza-Li, Lilia Freire Rodrigues; Miranda, Márcio Lopes; Maciel-Guerra, Andréa Trevas; Guerra-Junior, Gil

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature
Blom, Carla Brauner; Ceolin, Lucieli; Romitti, Mirian; Siqueira, Débora; Maia, Ana Luiza

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  New mutation in the PTEN gene in a Brazilian patient with Cowden's syndrome
Lima, Erika U. de; Soares, Iberê C.; Danilovic, Debora L. S.; Marui, Suemi

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  

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