Zobrazeno 1 - 10
of 192
pro vyhledávání: '"Alexander A. L. Jorge"'
Autor:
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
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 64, Iss 5, Pp 559-566 (2020)
ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated indiv
Externí odkaz:
https://doaj.org/article/f40995cb8582482dbd7b0a71bbb797e7
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 63, Iss 6, Pp 608-617 (2020)
ABSTRACT The somatotropic axis is the main hormonal regulator of growth. Growth hormone (GH), also known as somatotropin, and insulin-like growth factor 1 (IGF-1) are the key components of the somatotropic axis. This axis has been studied for a long
Externí odkaz:
https://doaj.org/article/51a058bd79d540648465bca43d14024c
Autor:
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
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 63, Iss 2, Pp 167-174 (2019)
ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized t
Externí odkaz:
https://doaj.org/article/e0e1cc0d95ea4c57a355fb956a500abd
Autor:
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
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. To date, mutations in 11 genes have been frequently associated with this phenotype. In Brazil, few cohorts have bee
Externí odkaz:
https://doaj.org/article/f6853023510c4840b9ed6cfc0e72d576
Autor:
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
Publikováno v:
Genetics and Molecular Biology, Vol 40, Iss 2, Pp 436-441 (2017)
ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of t
Externí odkaz:
https://doaj.org/article/d662dc41a14d4187960452232e373408
Autor:
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
Publikováno v:
Clinics, Vol 68, Iss 8, Pp 1079-1083 (2013)
OBJECTIVES: Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort
Externí odkaz:
https://doaj.org/article/5e9a37c44ed847d8ad870db8094326ab
Autor:
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
Publikováno v:
Clinics, Vol 66, Iss 8, Pp 1361-1366 (2011)
INTRODUCTION: 21-hydroxylase deficiency is an autosomal recessive disorder that causes glucocorticoid deficiency and increased androgen production. Treatment is based on glucocorticoid replacement; however, interindividual variability in the glucocor
Externí odkaz:
https://doaj.org/article/3ce8e63f566f438699215588f1c13121
Publikováno v:
Clinics, Vol 66, Iss 6, Pp 1041-1044 (2011)
INTRODUCTION: PXR polymorphisms have been implicated in modulating CYP3A4 and PXR expression, potentially accounting for interindividual differences in drug metabolism. The prevalence of PXR polymorphisms varies among ethnic groups and data on the al
Externí odkaz:
https://doaj.org/article/f4783496c7db4a609bc819c74e46ba92
Autor:
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
Publikováno v:
Endocrine Connections, Vol 12, Iss 8, Pp 1-12 (2023)
Context: Congenital hypopituitarism is a genetically heterogeneous cond ition. Whole exome sequencing (WES) is a promising approach for molecular di agnosis of patients with this condition. Objectives: The aim of this study is to conduct WES in a pat
Externí odkaz:
https://doaj.org/article/61bdf034805c413e97b2ca2ea28e0932
Autor:
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
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 61, Iss 6, Pp 633-636
SUMMARY Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequ
Externí odkaz:
https://doaj.org/article/48c3d10eaf4b490c97149dbadc8fb15a