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

 

Table of contents
Arq Bras Endocrinol Metab vol.52 no.8 São Paulo Nov. 2008

 Editorial
  
 ·  Getting your report seen in and beyond ABE&M
Silva, Magnus R. Dias da

        · text in English     · English ( pdf )
  
 Clinical case reports
  
 ·  E449X mutation in the thyroid hormone receptor β associated with autoimmune thyroid disease and severe neuropsychomotor involvement
Gurgel, Maria Helane Costa; Montenegro Junior, Renan M.; Magalhaes, Rejane Araujo; Lima, Grayce Ellen da C. Paiva; Montenegro, Renan Magalhães; Magalhães, Patricia Kunzle Ribeiro; Maciel, Lea Maria Zanini

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach?
Silveira, Leticia G.; Dias, Eduardo P.; Marinho, Bruna C. G.; Gomez, Ricardo S.; De Marco, Luiz; Sarquis, Marta S.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency
Guerra-Junior, Gil; Spinola-Castro, Angela Maria; Siviero-Miachon, Adriana A.; Nogueira, Roberto Gomes; Lemos-Marini, Sofia Helena V.; D'Souza-Li, Lilia Freire Rodrigues; Silva, Priscila Cristina da; França, Emerson Salvador S.; Soardi, Fernanda Caroline; Mello, Maricilda Palandi de

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness
Crispim, Daisy; Estivalet, Aline A. F.; Roisenberg, Israel; Gross, Jorge L.; Canani, Luis H.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Clinical and genetic findings of five patients with WT1-related disorders
Andrade, Juliana Gabriel R. de; Guaragna, Mara Sanches; Soardi, Fernanda Caroline; Guerra-Júnior, Gil; Mello, Maricilda Palandi de; Maciel-Guerra, Andréa Trevas

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets
Macedo, Luciana Cosentino de; Soardi, Fernanda Caroline; Ananias, Nayla; Belangero, Vera Maria Santoro; Rigatto, Sumara Zuazani Pinto; De-Mello, Maricilda Palandi; D'Souza-Li, Lília

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation
Mory, Patricia B.; Crispim, Felipe; Kasamatsu, Teresa; Gabbay, Monica A. L.; Dib, Sergio A.; Moisés, Regina S.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X
Almeida, Madson Q.; Brito, Luciana Pinto; Domenice, Sorahia; Costa, Marcia Helena Soares; Pinto, Emilia Modolo; Osório, Cynthia A. Toledo; Latronico, Ana Claudia; Mendonca, Berenice B.; Fragoso, Maria Candida B. V.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome
Diniz, Erik Trovão; Jorge, Alexander A. L.; Arnhold, Ivo J. P.; Rosenbloom, Arlan L.; Bandeira, Francisco

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family
Melo, Maria Edna de; Marui, Suemi; Brito, Vinícius Nahime de; Mancini, Marcio Corrêa; Mendonca, Berenice B.; Knoepfelmacher, Mirta

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene
Coeli, Fernanda Borchers; Ferraz, Lúcio Fábio Caldas; Lemos-Marini, Sofia H. V. de; Rigatto, Sumara Zuanazi Pinto; Belangero, Vera Maria Santoro; de-Mello, Maricilda Palandi

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage
Nishi, Mirian Yumie; Correa, Rafaela Vieira; Costa, Elaine Maria Frade; Billerbeck, Ana Elisa Correia; Cruzes, André Luis; Domenice, Sorahia; Carvalho, Luciani Renata; Mendonca, Berenice B.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Somatostatin receptors subtypes 2 and 5, dopamine receptor type 2 expression and gsp status as predictors of octreotide LAR® responsiveness in acromegaly
Vieira Neto, Leonardo; Taboada, Giselle Fernandes; Gadelha, Mônica Roberto

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Pendred Syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene
Lofrano-Porto, Adriana; Barra, Gustavo B.; Nascimento, Paula P.; Costa, Patrícia G. G.; Garcia, Érica C.; Vaz, Rodrigo F.; Batista, Ana R. T.; Freitas, Ana C. R. de; Cherulli, Bruno L. B.; Bahmad Jr., Fayez; Figueiredo, Larissa G.; Neves, Francisco A. R.; Casulari, Luiz Augusto

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome
Ferreira Azevedo, Monalisa; Barra, Gustavo Barcelos; Medeiros, Ligiane Dantas de; Simeoni, Luiz Alberto; Naves, Luciana Ansaneli; Neves, Francisco de A. Rocha

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Seven-year follow-up of a juvenile female with papillary thyroid carcinoma with poor outcome, BRAF mutation and loss of expression of iodine-metabolizing genes
Oler, Gisele; Nakabashi, Claudia D.; Biscolla, Rosa Paula M.; Cerutti, Janete M.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling
Martin, Regina M.; Oliveira, Paulo S. L.; Costa, Elaine M. F.; Arnhold, Ivo J. P.; Mendonca, Berenice B.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Recurrence of papillary thyroid cancer suspected by high anti-thyroglobulin antibody levels and detection of peripheral blood thyroglobulin mRNA
Coelho, Sabrina Mendes; Buescu, Alexandru; Corbo, Rossana; Carvalho, Denise P.; Vaisman, Mário

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  HNF1α mutations are present in half of clinically defined MODY patients in South-Brazilian individuals
Maraschin, Jorge de Faria; Kannengiesser, Caroline; Murussi, Nádia; Campagnolo, Nicole; Canani, Luís Henrique; Gross, Jorge Luiz; Velho, Gilberto; Grandchamp, Bernard; Silveiro, Sandra Pinho

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A
Dora, José Miguel; Siqueira, Débora Rodrigues; Meyer, Erika L. Souza; Puñales, Márcia Khaled; Maia, Ana Luiza

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation
Rubio, Ileana G. S.; Galrao, Ana Luiza; Pardo, Viviane; Knobel, Meyer; Possato, Roberta F.; Camargo, Rosalinda R. Y.; Ferreira, Marcelo A.; Kanamura, Cristina T.; Gomes, Simone A.; Medeiros-Neto, Geraldo

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10
Bergamin, Carla S.; Rolim, Luiz Clemente; Dib, Sergio A.; Moisés, Regina S.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene
Della Manna, Thais; Battistim, Claudilene; Radonsky, Vanessa; Savoldelli, Roberta D.; Damiani, Durval; Kok, Fernando; Pearson, Ewan R.; Ellard, Sian; Hattersley, Andrew T.; Reis, André F.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Possible association between Carney complex and multiple endocrine neoplasia type 1 phenotypes
Nunes, Vania S.; Chang, Cláudia V.; Mazeto, Gláucia M. F. S.; Marques, Mariângela E. A.; Castro, Ana Valéria B.; Nogueira, Célia R.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 Perspectives
  
 ·  Allele-specific PCR assay to genotype SNP rs7903146 in TCF7L2 gene for rapid screening of diabetes susceptibility
Dutra, Ludmila Alves Sanches; Costa, Patrícia Godoy Garcia; Velasco, Lara Franciele Ribeiro; Amato, Angélica Amorim; Barra, Gustavo Barcelos

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Association between 894G>T endothelial nitric oxide synthase gene polymorphisms and metabolic syndrome
Piccoli, Jacqueline C. Escobar; Gottlieb, Maria Gabriela Valle; Castro, Luciano; Bodanese, Luiz Carlos; Manenti, Euler Roberto Fernandes; Bogo, Mauricio Reis; Peres, Alessandra; Rocha, Maria Izabel U. M. da; Cruz, Ivana Beatrice Mânica da

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients
Oliveira, Kelly Cristina de; Bianco, Bianca; Verreschi, Ieda T. N.; Guedes, Alexis Dourado; Galera, Bianca Borsato; Galera, Marcial Francis; Barbosa, Caio P.; Lipay, Monica Vannucci Nunes

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
Funari, Mariana F. A.; Jorge, Alexander A. L.; Pinto, Emilia M.; Arnhold, Ivo J. P.; Mendonca, Berenice B.; Nishi, Mirian Y.

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening
Soardi, Fernanda Caroline; Lemos-Marini, Sofia Helena V.; Coeli, Fernanda Borchers; Maturana, Víctor Gonçalves; Silva, Márcia Duarte Barbosa da; Bernardi, Renan Darin; Justo, Giselle Zenker; de-Mello, Maricilda Palandi

        · abstract in English | Portuguese     · text in English     · English ( pdf )
  
 ·  Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians
Camacho, Cleber P.; Hoff, Ana O.; Lindsey, Susan C.; Signorini, Priscila S.; Valente, Flávia O. F.; Oliveira, Mariana N. L.; Kunii, Ilda S.; Biscolla, Rosa Paula M.; Cerutti, Janete M.; Maciel, Rui M. B.

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

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