Zobrazeno 1 - 10
of 154
pro vyhledávání: '"Andréa Trevas Maciel‐Guerra"'
Autor:
Stela Carpini, Annelise Barreto Carvalho, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra
Publikováno v:
BMC Endocrine Disorders, Vol 18, Iss 1, Pp 1-7 (2018)
Abstract Background Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins l
Externí odkaz:
https://doaj.org/article/9f11d7b3f9ef4434b5011ba8e8e077ff
Autor:
Flavia Maria Rodrigues Hoffmann, Patrícia Fernandes Rodrigues, Teresa Maria Momensohn dos Santos, Edi Lucia Sartorato, Andréa Trevas Maciel-Guerra, Carla Gentile Matas, Vanessa Cristine Sousa de Moraes
Publikováno v:
Brazilian Journal of Otorhinolaryngology, Vol 74, Iss 5, Pp 698-702 (2008)
Summary: Hearing loss is a multifaceted condition with many etiologies, among which genetic mutation is. Therefore, it is important to connect audiological investigation to etiological diagnosis. Aim: this study aims to establish the audiological and
Externí odkaz:
https://doaj.org/article/d75e4949ac844c3abe2166ba9a1367ce
Autor:
Renata de Lima, Cristina Forti Iamada, Luciana Oliveira Silva, Maricilda Palandi de Mello, Andréa Trevas Maciel-Guerra
Publikováno v:
Genetics and Molecular Biology, Vol 31, Iss 4, Pp 839-842 (2008)
We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or with both short stature and mesomelia or Madelung's deformity. The deletion was demonstra
Externí odkaz:
https://doaj.org/article/61422cb2a536496d84d3d78b879a492d
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 65, Iss 2b, Pp 396-401 (2007)
In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included pati
Externí odkaz:
https://doaj.org/article/1cc612e36f4d4feb87bc9adfead01354
Autor:
Juliana Gabriel Ribeiro de Andrade, Antonia Paula Marques-de-Faria, Helena Campos Fabbri, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra
Publikováno v:
International Journal of Endocrinology, Vol 2014 (2014)
Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudin
Externí odkaz:
https://doaj.org/article/d33df0f356824bcbb96c1a49a45c2c98
Autor:
Nélio Neves Veiga-Junior, Pedro Augusto Rodrigues Medaets, Reginaldo José Petroli, Flávia Leme Calais, Maricilda Palandi de Mello, Carla Cristina Telles de Sousa Castro, Guilherme Guaragna-Filho, Letícia Espósito Sewaybricker, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel-Guerra, Gil Guerra-Junior
Publikováno v:
International Journal of Endocrinology, Vol 2012 (2012)
The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to distinguish partial androgen insensitivity syndrome (PAIS) from 5α-reduct
Externí odkaz:
https://doaj.org/article/e11220d68b574b6abef1bda6c207e812
Autor:
Sarah Crestian Cunha, Juliana Gabriel Ribeiro de Andrade, Camila Matsunaga de Angelis, Athanase Billis, Joaquim Murray Bustorff-Silva, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Gil Guerra-Júnior
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 62, Iss 6, Pp 644-647
SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal biopsies at the age of 3 months revealed dysgenetic testes and a gonadoblastoma on th
Externí odkaz:
https://doaj.org/article/5242e789cad94969a7a5b41a7cac854a
Autor:
Flávia Marcorin de Oliveira, Beatriz Amstalden Barros, Ana Paula dos Santos, Nilma Lúcia Viguetti Campos, Taís Nitsch Mazzola, Paulo Latuf Filho, Liliana Aparecida Lucci De Angelo Andrade, Mara Sanches Guaragna, Maricilda Palandi de Mello, Gil Guerra‐Junior, Társis Antonio Paiva Vieira, Andréa Trevas Maciel‐Guerra
Publikováno v:
American Journal of Medical Genetics Part A. 191:592-598
Autor:
Mara Sanches Guaragna, Felipe Lourenço Ledesma, Victoria Zavanelli Manzano, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior, Marcelo Milone Silva, Pedro Luiz de Brito, Maricilda Palandi de Mello
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:837-843
Objectives Wilm’s Tumor (WT) is the most common pediatric kidney cancer. Whereas most WTs are isolated, approximately 5% are associated with syndromes such as Denys-Drash (DDS), characterized by early onset nephropathy, disorders of sex development
Autor:
Beatriz Amstalden Barros, Mara Sanches Guaragna, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra
Publikováno v:
Sexual Development. 16:242-251
Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46,XX OT-DSD, the presence of testicul