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November 2008 - Volume 52 - Number 8
Special Issue: Clinical & Molecular Endocrine (C&M) Case Reports
Arquivos Brasileiros de Endocrinologia e Metabologia. Regulares_ ISSN 0004-2730

Editorial

  • Getting your Report Seen in And Beyond ABE&M
    Magnus R. Dias da Silva

Clinical Case Reports

  • E449X Mutation in The Thyroid Hormone Receptor β Associated with Autoimmune Thyroid Disease and Severe Neuropsychomotor Involvement
    Maria Helane Costa Gurgel, Renan M. Montenegro Junior, Rejane Araujo Magalhaes, Grayce Ellen da C. Paiva Lima, Renan Magalhães Montenegro, Patricia Kunzle Ribeiro Magalhães & Lea Maria Zanini Maciel
  • HRPT2-related Familial Isolated Hyperparathyroidism: Could Molecular Studies Direct the Surgical Approach?
    Leticia G. Silveira, Eduardo P. Dias, Bruna C. G. Marinho, Ricardo S. Gomez, Luiz de Marco & Marta S. Sarquis
  • Absence of Mutations in PAX6 Protein in Three Cases of Morning Glory Syndrome Associated with Isolated Growth Hormone Defciency
    Gil Guerra-Junior, Angela Maria Spinola-Castro, Adriana A. Siviero-Miachon, Roberto Gomes Nogueira, Sofia Helena V. Lemos-Marini, Lilia Freire Rodrigues D'Souza-Li, Priscila Cristina da Silva, Emerson Salvador S. França, Fernanda Caroline Soardi & Maricilda Palandi de Mello
  • A Report on the Prevalence of 15 Mitochondrial DNA Mutations Amongst Type 2 Diabetic Patients with or without Clinical Characteristics of Maternally Inherited Diabetes and Deafness
    Daisy Crispim, Aline A. F. Estivalet, Israel Roisenberg, Jorge L. Gross & Luis H. Canani
  • Clinical and Genetic Findings of Five Patients with WT1-Related Disorders
    Juliana Gabriel R. de Andrade, Mara Sanches Guaragna, Fernanda Caroline Soardi, Gil Guerra-Júnior, Maricilda Palandi de Mello & Andréa Trevas Maciel-Guerra
  • Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
    Luciana Cosentino de Macedo, Fernanda Caroline Soardi, Nayla Ananias, Vera Maria Santoro Belangero, Sumara Zuazani Pinto Rigatto, Maricilda Palandi De-Mello & Lília D'Souza-Li
  • Atypical Generalized Lipoatrophy and Severe Insulin Resistance due to a Heterozygous LMNA P.T10I Mutation
    Patricia B. Mory, Felipe Crispim, Teresa Kasamatsu, Monica A. L. Gabbay, Sergio A. Dib & Regina S. Moisés
  • 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
    Madson Q. Almeida, Luciana Pinto Brito, Sorahia Domenice, Marcia Helena Soares Costa, Emilia Modolo Pinto, Cynthia A. Toledo Osório, Ana Claudia Latronico, Berenice Bilharinho Mendonca & Maria Candida B. V. Fragoso
  • Novel Nonsense Mutation (p.Y113X) in the Human Growth Hormone Receptor Gene in a Brazilian Patient with Laron Syndrome
    Erik Trovão Diniz, Alexander A. L. Jorge, Ivo J. P. Arnhold, Arlan L. Rosenbloom & Francisco Bandeira
  • Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Caused by a Novel Mutation in Arginine-Vasopressin Gene in a Brazilian Family
    Maria Edna de Melo, Suemi Marui, Vinícius Nahime de Brito, Marcio Corrêa Mancini, Berenice Bilharinho de Mendonça & Mirta Knoepfelmacher
  • Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene
    Fernanda Borchers Coeli, Lúcio Fábio Caldas Ferraz, Sofia H. V. de Lemos-Marini, Sumara Zuanazi Pinto Rigatto, Vera Maria Santoro Belangero & Maricilda Palandi de-Mello
  • 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
    Mirian Yumie Nishi, Rafaela Vieira Correa, Elaine Maria Frade Costa, Ana Elisa Correia Billerbeck, André Luis Cruzes, Sorahia Domenice, Luciani Renata Carvalho & Berenice Bilharinho de Mendonça
  • Somatostatin Receptors Subtypes 2 and 5, Dopamine Receptor Type 2 Expression and gsp Status as Predictors of Octreotide LAR® Responsiveness in Acromegaly
    Leonardo Vieira Neto, Giselle Fernandes Taboada & Mônica Roberto Gadelha
  • Pendred Syndrome in a Large Consanguineous Brazilian Family Caused by a Homozygous Mutation in the SlC26A4 Gene
    Adriana Lofrano-Porto, Gustavo B. Barra, Paula P. Nascimento, Patrícia G. G. Costa, Érica C. Garcia, Rodrigo F. Vaz, Ana R. T. Batista, Ana C. R. de Freitas, Bruno L. B. Cherulli, Fayez Bahmad Jr., Larissa G. Figueiredo, Francisco A. R. Neves & Luiz Augusto Casulari
  • A Novel Mutation of Thyroid Hormone Receptor Beta (I431V) Impairs Corepressor Release, and Induces Thyroid Hormone Resistance Syndrome
    Monalisa Ferreira Azevedo, Gustavo Barcelos Barra, Ligiane Dantas de Medeiros, Luiz Alberto Simeoni, Luciana Ansaneli Naves & Francisco de A. Rocha Neves
  • Seven Year Follow Up of a Juvenile Female Papilary Thyroid Carcinoma with Poor Outcome, Braf Mutation and Loss of Expression of Iodide-Metabolizing Genes
    Gisele Oler, Claudia D. Nakabashi, Rosa Paula M. Biscolla & Janete M. Cerutti
  • Combined 17 Alpha-Hydroxylase/17,20-Lyase Defciency 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
    Regina M. Martin, Paulo S. L. Oliveira, Elaine M. F. Costa, Ivo J. P. Arnhold & Berenice B. Mendonca
  • Recurrence of Papillary Thyroid Cancer Suspected by High Anti-Thyroglobulin Antibody Levels and Detection of Peripheral Blood Thyroglobulin mRNA
    Sabrina Mendes Coelho, Alexandru Buescu, Rossana Corbo, Denise P. Carvalho & Mário Vaisman
  • HNF1α Mutations Are Present in Half of Clinically Defned MODY Patients in South-Brazilian Individuals
    Jorge de Faria Maraschin, Caroline Kannengiesser, Nádia Murussi, Nicole Campagnolo, Luís Henrique Canani, Jorge Luiz Gross, Gilberto Velho, Bernard Grandchamp & Sandra Pinho Silveiro
  • Pancreatitis as the First Manifestation of Multiple Endocrine Neoplasia Type 2A
    José Miguel Dora, Débora Rodrigues Siqueira, Erika L. Souza Meyer, Márcia Khaled Puñales & Ana Luiza Maia
  • A Molecular Analysis and Long-Term Follow-up of Two Siblings with Severe Congenital Hypothyroidism Carrying the IVS30+1G>T Intronic Thyroglobulin Mutation
    Ileana G. S. Rubio, Ana Luiza Galrao, Viviane Pardo, Meyer Knobel, Roberta F. Possato, Rosalinda R. Y. Camargo, Marcelo A. Ferreira, Cristina T. Kanamura, Simone A. Gomes & Geraldo Medeiros-Neto
  • Unusual Occurrence of Intestinal Pseudo Obstruction in a Patient with Maternally Inherited Diabetes and Deafness (MIDD) and Favorable Outcome with Coenzyme Q10
    Carla S. Bergamin, Luiz Clemente Rolim, Sergio A. Dib & Regina S. Moisés
  • Glibenclamide Unresponsiveness in a Brazilian Child with Permanent Neonatal Diabetes Mellitus and DEND Syndrome Due to a C166Y Mutation in KCNJ11 (Kir6.2) Gene
    Thais Della Manna, Claudilene Battistim, Vanessa Radonsky, Roberta D. Savoldelli, Durval Damiani, Fernando Kok, Ewan R. Pearson, Sian Ellard, Andrew T. Hattersley & André F. Reis
  • Possible Association between Carney Complex and Multiple Endocrine Neoplasia type 1 Phenotypes
    Vania S. Nunes, Cláudia V. Chang, Gláucia M. F. S. Mazeto, Mariângela E. A. Marques, Ana Valéria B. Castro & Célia R. Nogueira

Perspectives

  • Allele-Specifc PCR Assay to Genotype SNP RS7903146 in TCF7L2 Gene for Rapid Screening of Diabetes Susceptibility
    Ludmila Alves Sanches Dutra, Patrícia Godoy Garcia Costa, Lara Franciele Ribeiro Velasco, Angélica Amorim Amato & Gustavo Barcelos Barra
  • Association Between 894G>T Endothelial Nitric Oxide Synthase Gene Polymorphisms and Metabolic Syndrome
    Jacqueline C. Escobar Piccoli, Maria Gabriela Valle Gottlieb, Luciano Castro, Luiz Carlos Bodanese, Euler Roberto Fernandes Manenti, Mauricio Reis Bogo, Alessandra Peres, Maria Izabel U. M. da Rocha & Ivana Beatrice Mânica da Cruz
  • Prevalence of the Polymorphism MTHFR A1298C and not MTHFR C677T is Related to Chromosomal Aneuploidy in Brazilian Turner Syndrome Patients
    Kelly Cristina de Oliveira, Bianca Bianco, Ieda T. N. Verreschi, Alexis Dourado Guedes, Bianca Borsato Galera, Marcial Francis Galera, Caio P. Barbosa & Monica Vannucci Nunes Lipay
  • Cryptic Intragenic Deletion of the SHOX Gene in a Family with Léri-Weill Dyschondrosteosis Detected by Multiplex Ligation-Dependent Probe Amplifcation (MLPA)
    Mariana F. A. Funari, Alexander A. L. Jorge, Emilia M. Pinto, Ivo J. P. Arnhold, Berenice B. Mendonca & Mirian Y. Nishi
  • Heterozygosis for CYP21A2 Mutation Considered AS 21-Hydroxylase Defciency in Neonatal Screening
    Fernanda Caroline Soardi, Sofia Helena V. Lemos-Marini, Fernanda Borchers Coeli, Víctor Gonçalves Maturana, Márcia Duarte Barbosa da Silva, Renan Darin Bernardi, Giselle Zenker Justo & Maricilda Palandi de-Mello
  • Early Diagnosis of Multiple Endocrine Neoplasia Type 2B: a Challenge for Physicians
    Cleber P. Camacho, Ana O. Hoff, Susan C. Lindsey, Priscila S. Signorini, Flávia O. F. Valente, Mariana N. L. Oliveira, Ilda S. Kunii, Rosa Paula M. Biscolla, Janete M. Cerutti & Rui M. B. Maciel


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