Genetic causes of isolated short stature by Gabriela A. Vasques, Nathalia L. M. Andrade, Alexander A. L. Jorge

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Frequency of genetic polymorphisms of PXR gene in the Brazilian population by Ricardo P. P. Moreira, Alexander A. L. Jorge, Berenice B. Mendonca, Tânia A. S. S. Bachega

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Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development by Luciana R. Montenegro, Antônio M. Lerário, Miriam Y. Nishi, Alexander A.L. Jorge, Berenice B. Mendonca

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Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status by Alexander A L Jorge, Thomas Edouard, Mohamad Maghnie, Alberto Pietropoli, Nicky Kelepouris, Alicia Romano, Martin Zenker, Reiko Horikawa

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Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Ricardo P. P. Moreira, Alexander A. L. Jorge, Larissa G. Gomes, Laura C. Kaupert, João Massud Filho, Berenice B. Mendonca, Tânia A. S. S. Bachega

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Tegumentary manifestations of Noonan and Noonan-related syndromes by Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Amanda Salem Brasil, Alexandre C. Pereira, Alexander A. L. Jorge, Alexsandra C. Malaquias, Chong Ae Kim, Debora Romeo Bertola

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Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery by Fernanda A. Correa, Marilena Nakaguma, João L. O. Madeira, Mirian Y. Nishi, Milena G. Abrão, Alexander A. L. Jorge, Luciani R. Carvalho, Ivo J. P. Arnhold, Berenice B. Mendonça

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Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect by Renata C. Scalco, Fernanda T. Gonçalves, Hadassa C. Santos, Mari M. S. G. Cardena, Carlos A. Tonelli, Mariana F. A. Funari, Rosana M. Aracava, Alexandre C. Pereira, Cintia Fridman, Alexander A. L. Jorge

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Targeted massively parallel sequencing for congenital generalized lipodystrophy by Aline D. Costa-Riquetto, Lucas S. Santana, Lílian A. Caetano, Antônio M. Lerário, Joya E. M. Correia-Deur, Débora R. Bertola, Chong A. Kim, Márcia Nery, Alexander A. L. Jorge, Milena G. Teles

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Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing by Fernanda A. Correa, Marcela M. França, Qing Fang, Qianyi Ma, Tania A. Bachega, Andresa Rodrigues, Bilge A. Ozel, Jun Z. Li, Berenice B. Mendonca, Alexander A. L. Jorge, Luciani R. Carvalho, Sally A. Camper, Ivo J. P Arnhold

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Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age by Rocio R.D. Coletta, Alexander A.L. Jorge, Catarina Brasil D'Alva, Emília M. Pinto, Ana Elisa C. Billerbeck, Paulo R. Pachi, Carlos A. Longui, Ricardo M. Garcia, Margaret Boguszewski, Ivo J.P. Arnhold, Berenice B. Mendonca, Elaine M.F. Costa

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Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR by Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge, Ivo J P Arnhold

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Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature by Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander A L Jorge, Gabriela Andrade Vasques

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Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders by Nathalia G B P Ferreira, Joao L O Madeira, Peter Gergics, Renata Kertsz, Juliana M Marques, Nicholas S S Trigueiro, Anna Flavia Figueredo Benedetti, Bruna V Azevedo, Bianca H V Fernandes, Debora D Bissegatto, Isabela P Biscotto, Qing Fang, Qianyi Ma, Asye B Ozel, Jun Li, Sally A Camper, Alexander A L Jorge, Berenice B Mendonça, Ivo J P Arnhold, Luciani R Carvalho

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Targeted sequencing identifies novel variants in common and rare MODY genes by Lucas S. deSantana, Lilian A. Caetano, Aline D. Costa‐Riquetto, Pedro C. Franco, Renata P. Dotto, André F. Reis, Letícia S. Weinert, Sandra P. Silveiro, Marcio F. Vendramini, Flaviene A. doPrado, Giovanna C. P. Abrahão, Ana Gregória F. P. deAlmeida, Maria da G. Rodrigues Tavares, Wagner Rodrigo B. Gonçalves, Augusto C. Santomauro Junior, Bruno Halpern, Alexander A. L. Jorge, Marcia Nery, Milena G. Teles

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Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study by Rui M B Maciel, Cleber P Camacho, Lígia V M Assumpção, Natassia E Bufalo, André L Carvalho, Gisah A de Carvalho, Luciana A Castroneves, Francisco M de Castro Jr, Lucieli Ceolin, Janete M Cerutti, Rossana Corbo, Tânia M B L Ferraz, Carla V Ferreira, M Inez C França, Henrique C R Galvão, Fausto Germano-Neto, Hans Graf, Alexander A L Jorge, Ilda S Kunii, Márcio W Lauria, Vera L G Leal, Susan C Lindsey, Delmar M Lourenço Jr, Léa M Z Maciel, Patrícia K R Magalhães, João R M Martins, M Cecília Martins-Costa, Gláucia M F S Mazeto, Anelise I Impellizzeri, Célia R Nogueira, Edenir I Palmero, Cencita H C N Pessoa, Bibiana Prada, Débora R Siqueira, Maria Sharmila A Sousa, Rodrigo A Toledo, Flávia O F Valente, Fernanda Vaisman, Laura S Ward, Shana S Weber, Rita V Weiss, Ji H Yang, Magnus R Dias-da-Silva, Ana O Hoff, Sergio P A Toledo, Ana L Maia

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