Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Alexander A de Lima, Jorge"'
Autor:
Julia Haddad Labello, Anna Flávia Figueredo Benedetti, Bruna Viscardi Azevedo, Alexander Augusto de Lima Jorge, Valter Angelo Sperling Cescato, Sergio Rosemberg, Fernando Pereira Frasseto, Ivo Jorge Prado Arnhold, Luciani Renata Silveira de Carvalho
Publikováno v:
Archives of Endocrinology and Metabolism (2022)
SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In
Externí odkaz:
https://doaj.org/article/01d93a647ad049398689e15e43323ab6
Autor:
Patrícia Lacerda Bellodi, Marisa Dolhnikoff, Alfredo Luiz Jacomo, Alexander Augusto de Lima Jorge, Alexandre Archanjo Ferraro, Ana Claudia Camargo Gonçalves Germani, Ana Cristina Aoun Tannuri, Beatriz Helena Carvalho Tess, Bruno Caramelli, Denise Maria Avancini Costa Malheiros, Iolanda de Fátima Lopes Calvo Tibério, José Pinhata Otoch, Luiz Fernando Ferraz da Silva, Luiz Henrique Martins Castro, Maria Cláudia Nogueira Zerbini, Milton de Arruda Martins, Rogério de Souza, Rossana Pulcineli Vieira Francisco
Publikováno v:
Clinics, Vol 76 (2021)
BACKGROUND: Even students with previous academic success may face challenges that affect their academic performance. Many medical schools offer programs to students at the risk of academic failure, to ensure that they succeed in the course. OBJECTIVE
Externí odkaz:
https://doaj.org/article/f816f0189c3c41fabbe65e55fe0ad997
Autor:
Antonio Marcondes Lerario, Dipika R. Mohan, Luciana Ribeiro Montenegro, Mariana Ferreira de Assis Funari, Mirian Yumie Nishi, Amanda de Moraes Narcizo, Anna Flavia Figueredo Benedetti, Sueli Mieko Oba-Shinjo, Aurélio José Vitorino, Rogério Alexandre Scripnic Xavier dos Santos, Alexander Augusto de Lima Jorge, Luiz Fernando Onuchic, Suely Kazue Nagahashi Marie, Berenice Bilharinho Mendonca
Publikováno v:
Clinics, Vol 75 (2020)
OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant among thousands of genetic poly
Externí odkaz:
https://doaj.org/article/a3a74911a39240788ce158a7327501af
Autor:
Bruna Lucheze Freire, Thais Kataoka Homma, Antônio Marcondes Lerario, Go Hun Seo, Heonjong Han, Mariana Ferreira de Assis Funari, Nathalia Lisboa Gomes, Carla Rosemberg, Ana Cristina Victorino Krepischi, Gabriela de Andrade Vasques, Alexsandra Christianne Malaquias, Alexander Augusto de Lima Jorge
Publikováno v:
American Journal of Medical Genetics Part A. 188:2599-2604
Most infants born with very low birth weight (VLBW, birth weight 1500 g) show spontaneous catch-up growth in postnatal life. The reasons for the absence of catch-up growth are not entirely understood. We performed a comprehensive investigation of 52
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c7e510086eb9e9b72bb90210f8e3a6
https://doi.org/10.1002/ajmg.a.62892
https://doi.org/10.1002/ajmg.a.62892
Autor:
Renan Magalhães Montenegro, Aline Dantas Costa-Riquetto, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Lucas Santos de Santana, Alexander Augusto de Lima Jorge, Lia Beatriz de Azevedo Souza Karbage, Lindenberg Barbosa Aguiar, Francisco Herlânio Costa Carvalho, Milena Gurgel Teles, Catarina Brasil d'Alva
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
Background: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the LMNA gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a gen
Externí odkaz:
https://doaj.org/article/127372d3b46c4b9c8268f408815b0046
Autor:
Giovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, Bruna Lucheze Freire, Thais Kataoka Homma, Rachel Sayuri Honjo, Guilherme Lopes Yamamoto, Maria Rita Passos-Bueno, Celia Priszkulnik Koiffmann, Chong Ae Kim, Angela Maria Vianna-Morgante, Alexander Augusto de Lima Jorge, Débora Romeo Bertola, Carla Rosenberg, Ana Cristina Victorino Krepischi
Publikováno v:
Journal of Autism and Developmental Disorders.
Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5057058696699a018c1e67459482cd2b
https://doi.org/10.1007/s10803-022-05853-z
https://doi.org/10.1007/s10803-022-05853-z
Autor:
Laura Machado Lara Carvalho, Carla Sustek D’Angelo, Darine Villela, Silvia Souza da Costa, Alexander Augusto de Lima Jorge, Israel Tojal da Silva, Marília de Oliveira Scliar, Luiza Dias Chaves, Ana Cristina Victorino Krepischi, Celia Priszkulnik Koiffmann, Carla Rosenberg
Publikováno v:
International journal of obesity (2005). 46(9)
Syndromic obesity (SO) refers to obesity with additional phenotypes, including intellectual disability (ID)/developmental delay (DD), dysmorphic features, or organ-specific abnormalities. SO is rare, has high phenotypic variability, and frequently fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15df4730cddac4d35d23b09015194c88
https://pubmed.ncbi.nlm.nih.gov/35597848
https://pubmed.ncbi.nlm.nih.gov/35597848
Autor:
Andréa de Castro, Leal, Ana Pinheiro Machado, Canton, Luciana Ribeiro, Montenegro, Débora Cabral, Coutinho, Ivo Jorge Prado, Arnhold, Alexander Augusto de Lima, Jorge
Publikováno v:
Arquivos brasileiros de endocrinologia e metabologia. 55(8)
Approximately 10% of children born small-for-gestational age (SGA) do not show spontaneous growth catch-up. The causes of this deficit in prenatal growth and its maintenance after birth are not completely known, in most cases. Over the past eight yea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6695045f283e89fdd12b77ded4a37dd
https://pubmed.ncbi.nlm.nih.gov/22218435
https://pubmed.ncbi.nlm.nih.gov/22218435
Publikováno v:
Arquivos brasileiros de endocrinologia e metabologia. 52(6)
It is reported in this study the clinical, laboratory and genetic aspects of short stature investigation with emphasis to the diagnostic approach of growth hormone insensitivity (GHI). This patient in case presented typical clinical features of GHI a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f187b7696529b3f95d71650b65451454
https://pubmed.ncbi.nlm.nih.gov/18820818
https://pubmed.ncbi.nlm.nih.gov/18820818
Autor:
Alexander A de Lima, Jorge, Hamilton C de, Menezes Filho, Theresa S Soares, Lins, Dulce Rondini, Guedes, Durval, Damiani, Nuvarte, Setian, Ivo J Prado, Arnhold, Berenice B de, Mendonça
Publikováno v:
Arquivos brasileiros de endocrinologia e metabologia. 49(3)
We studied the growth hormone receptor (GHR) gene in 6 patients with Laron syndrome (LS) from 4 unrelated families. Exons 2 to 10 were amplified by PCR using specific intronic pairs of primers. The PCR products were directly sequenced. Our results sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e30c0d04bd868fa53e41ea25464ded80
https://pubmed.ncbi.nlm.nih.gov/16543985
https://pubmed.ncbi.nlm.nih.gov/16543985