CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome

Autor: Luana Oliveira dos Santos, Adriana Valéria Sales Bispo, Juliana Vieira de Barros, Raysa Samanta Moraes Laranjeira, Rafaella do Nascimento Pinto, Jaqueline de Azevêdo Silva, Andréa de Rezende Duarte, Jacqueline Araújo, Paula Sandrin-Garcia, Sergio Crovella, Marcos André Cavalcanti Bezerra, Taciana Furtado de Mendonça Belmont, Maria do Socorro Cavalcanti, Neide Santos

Publikováno v: Genetics and Molecular Biology, Vol 41, Iss 4, Pp 727-734 (2018)

Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (

Externí odkaz: https://doaj.org/article/b2e74d74f8134dda8a2786d07b465466

CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome

Autor: Sergio Crovella, Jaqueline de Azevêdo Silva, Maria do Socorro Cavalcanti, Andréa de Rezende Duarte, Marcos André Cavalcanti Bezerra, Taciana Furtado de Mendonça Belmont, Raysa Samanta Moraes Laranjeira, Rafaella do Nascimento Pinto, Luana Oliveira dos Santos, Paula Sandrin-Garcia, Jacqueline Araújo, Juliana Vieira de Barros, Adriana Valéria Sales Bispo, Neide Santos

Publikováno v: Genetics and Molecular Biology, Issue: ahead, Published: 29 NOV 2018
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 41, Iss 4, Pp 727-734 (2018)
Genetics and Molecular Biology, Volume: 41, Issue: 4, Pages: 727-734, Published: 29 NOV 2018
Genetics and Molecular Biology v.41 n.4 2018
Sociedade Brasileira de Genética (SBG)
instacron:SBG

Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75397ce93017ea28f1d05821392ab4c5
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018005021104&lng=en&tlng=en

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Autor: Barbara R. DuPont, Lei Cao, Bruno F. Gamba, Daniel R. Carvalho, Suely Rodrigues dos Santos, Katherina Walz, Andréa de Rezende Duarte, Paulina Carmona-Mora, D. H. Souza, Anand K. Srivastava, Jayson Rodriguez, Danilo Moretti-Ferreira, Gustavo Henrique Apolinário Vieira

Publikováno v: European Journal of Human Genetics. 20:148-154

Smith–Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c21e86610b190158674f8b6ae638b5
https://doi.org/10.1038/ejhg.2011.167

Case Report Identification of a de novo inv dup(X)(pter→ q22) by multicolor banding in a girl with Turner syndrome

Autor: Friederike Hunstig, L Valença, M T M C Nogueira, Thomas Liehr, Terezinha de Jesus Marques-Salles, Eliane Maria Soares-Ventura, Pollyanna Burégio-Frota, Gabriela Ferraz Leal, Andréa de Rezende Duarte, A V S Bispo-Brito, Neide Santos, Maria Luiza Macedo Silva, Maria Tereza Cartaxo Muniz

Publikováno v: Genetics and Molecular Research. 9:780-784

We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::91192b5979513fb3d61b89296777d0bc
https://doi.org/10.4238/vol9-2gmr777

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients

Autor: M. I. De Michelena, Isabella Lopes Monlleó, G. T. N. Besley, R. Giugliani, M.C.V. Garreton, Andréa de Rezende Duarte, Karen Tylee, Ana Carolina Brusius-Facchin, M. Ascurra, Angelina Xavier Acosta, Agnes Cristina Fett-Conte, Sandra Leistner-Segal, Christoph T. Zimmer, Ida Vanessa Doederlein Schwartz, R. P. Oliveira Sobrinho, Márcia Gonçalves Ribeiro, Marshall Italo Barros Fontes, Raquel Boy, Dafne Dain Gandelman Horovitz, P. Mabe

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d015a6878cee7ea7a269a20e09e7d25d
https://hdl.handle.net/20.500.12866/8060