Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Alexsandra C. Malaquias"'
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:
Raissa C. Rezende, Renata Maria Noronha, Ana Keselman, Elisangela P.S. Quedas, Naiara C.B. Dantas, Nathalia L.M. Andrade, Debora R. Bertola, Alexsandra C. Malaquias, Alexander A.L. Jorge
Publikováno v:
Hormone Research in Paediatrics. 95:51-61
Introduction: Pubertal delay is described as one of the clinical features in Noonan syndrome (NS) and it may be one of the factors causing short adult height in those patients. The present study aimed at characterizing pubertal development in NS and
Autor:
Sonir Roberto Rauber Antonini, Berenice B. Mendonca, Renata C. Scalco, Sofia Helena Valente de Lemos-Marini, Alexander A. L. Jorge, Ester R. Silveira, Ivo J.P. Arnhold, Naiara C.B. Dantas, Gil Guerra-Júnior, Adriana F. Braz, Alexsandra C. Malaquias
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Universidade de São Paulo (USP)
instacron:USP
Context: Treatment with growth hormone (GH) is considered effective in improving adult height (AH) in Turner syndrome (TS). However, there are few studies comparing AH between treated patients and a concurrent untreated group. Objective: To assess th
Autor:
Andrade, Nathalia L. M., Funari, Mariana F A, Alexsandra C Malaquias, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia, Scalco, Renata C, Naiara C. B. Dantas, Rezende, Raissa C., Tib��rcio, Angelica M. F. P., Souza, Micheline A. R., Freire, Bruna, Krepischi, Ana CV, Longui, Carlos, Lerario, Antonio Marcondes, Arnhold, Ivo, Jorge, Alexander A L, Vasques, Gabriela A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bfa011c974226a1b645495aa08c9d06f
Autor:
Andrade, Nathalia L. M., Funari, Mariana F A, Alexsandra C. Malaquias, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L. R. A., Scalco, Renata C, Naiara C. B. Dantas, Rezende, Raissa C., Tib��rcio, Angelica M. F. P., Souza, Micheline A. R., Freire, Bruna, Krepischi, Ana CV, Longui, Carlos, Lerario, Antonio Marcondes, Arnhold, Ivo, Jorge, Alexander A L, Vasques, Gabriela A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b81377fe41fee89e0efcf55d30d1932
Autor:
Funari, Kim Ca, Antonio M. Lerario, Paulo Ferrez Collett-Solberg, Edoarda Vasco de Albuquerque Albuquerque, Andrew Dauber, Miura Sugayama Sm, Honjo Kawahira Rs, Bruna L Freire, Thais Kataoka Homma, Mirian Yumie Nishi, Jorge Aal, Alexsandra C. Malaquias, Arnhold Ijp, Gabriela A Vasques, Débora Romeo Bertola
Publikováno v:
The Journal of Pediatrics. 215:192-198
Objective To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause. Study design For whole exome sequencing analysis, we selected 4
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:
Chong Ae Kim, Guilherme L. Yamamoto, Rachel Sayuri Honjo, José Ricardo Magliocco Ceroni, Débora Romeo Bertola, Alexander A. L. Jorge, Michele M Buscarilli, Alexsandra C. Malaquias, Maria Rita Passos-Bueno, Alexandre C. Pereira, Amanda B Freitas, Matheus Augusto Araujo Castro
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)
We report the clinical and molecular data of a large cohort comprising 242 individuals with RASopathies, from a single Tertiary Center in Brazil, the largest study from Latin America. Noonan syndrome represented 76% of the subjects, with heterozygous
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
Publikováno v:
Molecular and cellular endocrinology. 519
RASopathies are a heterogeneous group of syndromes caused by germline mutations in genes encoding components of the RAS/MAPK pathway. Postnatal short stature is a cardinal feature of the RASopathies. Although the pathophysiology of these conditions i