Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Elizabete Cunha"'
Autor:
Catarina Dantas Rodrigues, Rita Pombal, Janet Pereira, Luís Relvas, Elizabete Cunha, José Carlos Almeida, Tabita Maia, Helena Silva, Celeste Bento
Publikováno v:
eJHaem, Vol 3, Iss 3, Pp 989-991 (2022)
Abstract Congenital erythrocytosis (CE) represents a rare and heterogeneous group of hereditary disorders. The molecular basis of VHL gene mutations related to CE. Recently, Lenglet et al. reported a discovery of a novel cryptic exon in the VHL gene.
Externí odkaz:
https://doaj.org/article/b480424704ba4ffcbeb5f0a0bbcea8d8
Autor:
Jacqueline Aparecida Philipino Takada, Rafaella Alves Weber, Leonice Costa Luz, Yasmin Souza Silva, Armando Jarib Gonçalves Tavares, Thalita De Sousa Pereira, Ana Karoline Campos Araújo, Livia Gomes de Oliveira, Luciana Lane Gomes Da Silva, Wellington Carlos da Silva, Nitiele Elizabete Cunha, Agrinazio Geraldo Nascimento Neto
Publikováno v:
International Neuropsychiatric Disease Journal. :20-27
Introduction: Down syndrome is a genetic condition arising from three chromosomal abnormalities, namely trisomy 21 (the most well-known); translocation, and/or mosaicism. This chromosome change occurs in the formation of the fetus, in more detail at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12f90c4279cede542eca99d9b4e8797e
https://doi.org/10.9734/indj/2021/v15i430160
https://doi.org/10.9734/indj/2021/v15i430160
Autor:
Rachel Hart, Fabiana Ramos, Helen Kingston, Rachel Scholey, Ana Beleza-Meireles, Jorge M. Saraiva, Luís Pires, Jill Clayton-Smith, Dian Donnai, Isabel M. Carreira, Ronnie Wright, Bronwyn Kerr, William G. Newman, Tracy A Briggs, Renata Nunes Oliveira, Kay Metcalfe, Jill E. Urquhart, Joaquim Sá, Lina Ramos, Cláudia F. Reis, May Tassabehji, Elizabete Cunha, Margarida Venâncio
Publikováno v:
European Journal of Medical Genetics. 58:455-465
Introduction Oculo-auriculo-vertebral spectrum (OAVS OMIM 164210 ) is a craniofacial developmental disorder affecting the development of the structures derived from the 1st and the 2nd branchial arches during embryogenesis, with consequential maxilla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e792b2c76c1ef2c62ea3600703945cc7
https://doi.org/10.1016/j.ejmg.2015.07.003
https://doi.org/10.1016/j.ejmg.2015.07.003
Autor:
Yukiharu Okamoto, Nobuo Kanazawa, Mary Frances McMullin, Celeste Bento, Shinobu Tamura, Luís Relvas, Elizabete Cunha, Tadahiko Tamura, Akinori Nishikawa, Hiroya Gima
Publikováno v:
Internal Medicine. 54:2389-2393
We herein present a case of congenital erythrocytosis caused by haemoglobin (Hb) Bethesda in a Japanese family. A 55-year-old asymptomatic man was referred to our hospital for the investigation of erythrocytosis, which was present in other members of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a58d8d9a30c2b18fcf18fe34e85741
https://doi.org/10.2169/internalmedicine.54.4520
https://doi.org/10.2169/internalmedicine.54.4520
Autor:
Celeste Bento, Ricardo Costa, Ana Oliveira, Tabita M. Maia, Ana Paula Macedo, Luís Relvas, Paula Rocha, Elizabete Cunha, M. Letícia Ribeiro, Mariline Gameiro, Cristina Barros, Joana Neves, Ana Margarida Araújo
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Hb Plasencia is a thalassemic hemoglobin (Hb) mutation caused by a leucine to arginine replacement at residue 125 of the α2-globin chain (HBA2:c.377TG). This variant was first described in the heterozygous state in association with a very mild α-th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6df59793dbd849dd85303263f7b5797b
https://hdl.handle.net/10316/45547
https://hdl.handle.net/10316/45547
Autor:
Carlos Fernandez‐Lago, José Barbot, Celeste Bento, Elizabete Cunha, M. Letícia Ribeiro, Ricardo Costa, Emília Costa, Joana Neves, Mariline Gameiro, Ana Catarina Oliveira, Margarida Coucelo
Publikováno v:
Hemoglobin. 36(6)
We report a new structural defect of the α2-globin chain presenting with moderate microcytic hypochromic anemia, in six individuals from three unrelated families, living in Portugal and Spain. α-Globin gene deletions were ruled out by gap-polymeras
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b4780aa052aefdecd94260dfb91b949
https://pubmed.ncbi.nlm.nih.gov/23181747
https://pubmed.ncbi.nlm.nih.gov/23181747
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