Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Elisangela P S, Quedas"'
Autor:
Elisangela P. S. Quedas, Viviane C. Longuini, Tomoko Sekiya, Flavia L. Coutinho, Sergio P. A. Toledo, Uenis Tannuri, Rodrigo A. Toledo
Publikováno v:
Clinics, Vol 67, Pp 57-61 (2012)
Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine n
Externí odkaz:
https://doaj.org/article/14c0280d78c641788c99d7feacf944ea
Autor:
Rachel Sayuri Honjo, Alexander A. L. Jorge, Fernanda Viana Silva, Débora Romeo Bertola, Guilherme L. Yamamoto, Mariana F A Funari, Renata Maria de Noronha, Chong Ae Kim, Suzana Nesi-França, Michelle Bianchi de Moraes, Elisangela P S Quedas, Alexsandra C. Malaquias, Thaiana T O Souza, Thais Kataoka Homma, Julienne A. R. Carvalho
Publikováno v:
Hormone Research in Paediatrics. 91:252-261
Objectives: The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS). Materials and Methods: Forty-two patients (35 PTPN11+) were treated with rhGH, and 17 were foll
Autor:
Elisangela P S Quedas, Antonio M. Lerario, Sergio P. A. Toledo, Viviane C. Longuini, Betsaida Urtremari, Delmar M. Lourenço, Fábio Luiz de Menezes Montenegro, Alexander A. L. Jorge, Tomoko Sekiya, Stephen J. Marx, Lucas Santos de Santana, Rodrigo A. Toledo, Rafael Arrabaça Carvalho
Publikováno v:
European Journal of Endocrinology. 179:391-407
Background Loss-of-function germline MEN1 gene mutations account for 75–95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that mutations in non-coding regions of MEN1 might occur in some of the remaining patien
Autor:
Louise V Antonio, Betsaida Urtremari, Delmar M. Lourenço, Flavio G Ribeiro, Elisangela P S Quedas, Lucas Santos de Santana, Rafael Aquino de Carvalho, Palloma C Lugeiro
Publikováno v:
Journal of the Endocrine Society
Background: Index cases clinically diagnosed with multiple endocrine neoplasia type 1 (MEN1) are declared as MEN1 phenocopies if no germline MEN1 mutation is identified. In comparison with positive-mutation cases, most phenocopies have been diagnosed
Autor:
Michelle Bianchi de Moraes, Edoarda Vasco de Albuquerque Albuquerque, Alexander A. L. Jorge, Natalia Torres, Elisangela P S Quedas, Alexsandra C. Malaquias, R.M. Noronha, Débora Romeo Bertola, Sandra M.F. Villares, Mariana F A Funari, Thais Kataoka Homma
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(3)
Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously been described in this condition
Autor:
Betsaida Urtremari, Delmar M. Lourenço, Lucas Santos de Santana, Palloma C Lugeiro, Elisangela P S Quedas
Publikováno v:
Journal of the Endocrine Society
Context: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant genetic syndrome caused by germline pathogenic allele variants (PAV) in the MEN1 tumor suppressor gene, which predispose MEN1 carriers to the increased risk of several e
Autor:
Lílian Araújo Caetano, Leticia E. Sewaybricker, Elisangela P S Quedas, Margaret C. S. Boguszewski, Zuleica Isabel Zarabia, Milena Gurgel Teles, Flavia Osmo Floh, Lindiane Gomes Crisostomo, Marcio F Vendramini, Marcia Nery, Alexander A. L. Jorge, Aline Dantas Costa-Riquetto, Paulo Ferrez Collett-Solberg, Leila Guastapaglia, Suely Keiko Kohara, Caroline Passone, Lucas Santos de Santana
Publikováno v:
Clinical Genetics. 92:388-396
Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK -MODY and HNF1A -MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecul
Publikováno v:
Journal of the Endocrine Society
Context: Guidelines has systematically suggested genetic testing for a wide spectrum of phenotypes in order to confirm or exclude surely the diagnosis of multiple endocrine neoplasia type 1 (MEN1). However, the probability of find a germline MEN1 mut
Autor:
Nathália Paiva de Andrade, Mirian Yumie Nishi, Berenice B. Mendonca, Alexander A. L. Jorge, Gabriela A Vasques, Elisangela P S Quedas, Mariana F A Funari
Publikováno v:
Journal of the Endocrine Society
Introduction: Abnormal body proportion disclosed by sitting height/height ratio for age and sex (SH/H SDS) > 2 indicates an impairment of appendicular growth. This is frequently observed in patients with skeletal dysplasia and can be the only clinica
Autor:
Alexsandra C, Malaquias, Renata M, Noronha, Thaiana T O, Souza, Thais K, Homma, Mariana F A, Funari, Guilherme L, Yamamoto, Fernanda Viana, Silva, Michelle B, Moraes, Rachel S, Honjo, Chong A, Kim, Suzana, Nesi-França, Julienne A R, Carvalho, Elisangela P S, Quedas, Debora R, Bertola, Alexander A L, Jorge
Publikováno v:
Hormone research in paediatrics. 91(4)
The aim of this study was to evaluate the response to recombinant human growth hormone (rhGH) treatment in patients with Noonan syndrome (NS).Forty-two patients (35 PTPN11+) were treated with rhGH, and 17 were followed-up until adult height. The outc