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Arq Bras Endocrinol Metab vol.54 no.8 São Paulo nov. 2010  Editorial | | | | | | · Bringing endocrine basic science and physician investigators together
Silva, Magnus R. Dias da; Jorge, Alexander A. L.
| | | | | Review | | | | | | · Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights
Rolim, Ana Luiza R.; Lindsey, Susan C.; Kunii, Ilda S.; Fujikawa, Aline M.; Soares, Fernando A.; Chiamolera, Maria Izabel; Maciel, Rui M. B.; Silva, Magnus R. Dias da
| | | | | Original Article | | | | | | · Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene
Vendramini, Marcio F.; Gurgel, Lucimary C.; Moisés, Regina S.
| | | | | Clinical case reports | | | | | | · 46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
Alves, Cresio; Braid, Zilda; Coeli, Fernanda Borchers; Mello, Maricilda Palandi de
| | | | | | · Congenital leptin deficiency: diagnosis and effects of leptin replacement therapy
Paz-Filho, Gilberto; Mastronardi, Claudio; Delibasi, Tuncay; Wong, Ma-Li; Licinio, Julio
| | | | | | · Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening
Pinho, Leandro Kasuki Jomori de; Vieira Neto, Leonardo; Wildemberg, Luiz Eduardo Armondi; Moraes, Aline Barbosa; Takiya, Christina M.; Frohman, Lawrence A.; Korbonits, Márta; Gadelha, Mônica R.
| | | | | | · Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1
Boguszewski, Cesar Luiz; Bianchet, Leila Caroline; Raskin, Salmo; Nomura, Luiz M.; Borba, Luis Alencar; Cavalcanti, Teresa Cristina Santos
| | | | | | · Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil
Belgini, Daiane Rodrigues Barbosa; Mello, Maricilda Palandi de; Baptista, Maria Tereza Matias; Oliveira, Daniel Minutti de; Denardi, Fernanda Canova; Garmes, Heraldo Mendes; Grassiotto, Oswaldo da Rocha; Benetti Pinto, Cristina Laguna; Marques-de-Faria, Antonia Paula; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil
| | | | | | · Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
Brasil, Amanda Salem; Malaquias, Alexsandra C.; Wanderley, Luciana Turolla; Kim, Chong Ae; Krieger, José Eduardo; Jorge, Alexander A. L.; Pereira, Alexandre C.; Bertola, Débora Romeo
| | | | | | · Thyroid hormone resistance detected by routine neonatal screening
Maciel, Léa Maria Zanini; Magalhães, Patrícia Künzle Ribeiro
| | | | | | · A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels
Reis, Mariana Tenorio Antunes; Cattani, Andreina; Mendonca, Berenice Bilharinho; Corrêa, Pedro Henrique Silveira; Martin, Regina Matsunaga
| | | | | | · Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
Neves, Solange Caires; Mezalira, Paola Rossi; Dias, Vera M. A.; Chagas, Antonio J.; Viana, Maria; Targovnik, Hector; Knobel, Meyer; Medeiros-Neto, Geraldo; Rubio, Ileana G. S.
| | | | | | · Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation
Soardi, Fernanda Caroline; Esquiaveto-Aun, Adriana Mangue; Guerra-Júnior, Gil; Lemos-Marini, Sofia Helena Valente de; de Mello, Maricilda Palandi
| | | | | | · Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient
Costenaro, Fabíola; Rodrigues, Ticiana C.; Kater, Claudio E.; Auchus, Richard J.; Papari-Zareei, Mahboubeh; Czepielewski, Mauro A.
| | | | | | · Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
Mello, Maricilda Palandi de; Coeli, Fernanda Borchers; Assumpção, Juliana Godoy; Castro, Tammy Mazeo; Maciel-Guerra, Andréa Trevas; Marques-de-Faria, Antônia Paula; Baptista, Maria Tereza Matias; Guerra-Júnior, Gil
| | | | | | · 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
Fabbri, Helena Campos; Mello, Maricilda Palandi de; Soardi, Fernanda Caroline; Esquiaveto-Aun, Adriana Mangue; Oliveira, Daniel Minutti de; Denardi, Fernanda Canova; Moura-Neto, Arnaldo; Garmes, Heraldo Mendes; Baptista, Maria Tereza Matias; Matos, Patrícia Sabino de; Lemos-Marini, Sofia Helena Valente de; D'Souza-Li, Lilia Freire Rodrigues; Guerra-Júnior, Gil
| | | | | | · Aggressive prolactinoma in a child related to germline mutation in the ARYL hydrocarbon receptor interacting protein (AIP) gene
Naves, Luciana Ansaneli; Jaffrain-Rea, Marie-Lise; Vêncio, Sergio Alberto Cunha; Jacomini, Clausmir Zaneti; Casulari, Luiz Augusto; Daly, Adrian F.; Beckers, Albert
| | | | | | · Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia
Lusa, Letícia Gori; Lemos-Marini, Sofia Helena Valente de; Soardi, Fernanda Caroline; Ferraz, Lucio Fabio Caldas; Guerra-Júnior, Gil; Mello, Maricilda Palandi de
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