Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Salome De Almeida"'
Autor:
Ying Hu, I-Ping Chen, Salome de Almeida, Valdenize Tiziani, Cassio M Raposo Do Amaral, Kalpana Gowrishankar, Maria Rita Passos-Bueno, Ernst J Reichenberger
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e73576 (2013)
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter A
Externí odkaz:
https://doaj.org/article/4f27aa04aef4405fbc54b78b9d91d498
Autor:
Sofie Symoens, Bert Callewaert, Jean-Luc Bresson, Sahar Mansour, Chi-Ting Su, Meghan K. Mac Neal, Elaine C. Davis, Joseph G. H. Lee, Ketil Heimdal, Gérald Pierard, Katrina Prescott, Salome De Almeida, Paul Coucke, Anne De Paepe, Tim Van Damme, Bianca Schulz, Zsolt Urban, Uwe Kornak, Aicha Salhi, Lionel Van Maldergem, Olivier Vanakker, Sheila Unger, Philip Vlummens, Fransiska Malfait, Maria E. Gosendi, Harald Gaspar, Frank C. Sciurba, Suneeta Madan-Khetarpal
Publikováno v:
Human Mutation, vol. 34, no. 1, pp. 111-121
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad07a58de5bc9fb8a2fd35c015efb4d8
https://doi.org/10.1002/humu.22165
https://doi.org/10.1002/humu.22165
Autor:
I-Ping Chen, Kalpana Gowrishankar, Salome de Almeida, Valdenize Tiziani, Cassio Menezes Raposo do Amaral, Maria Rita Passos-Bueno, Ying Hu, Ernst J Reichenberger
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e73576 (2013)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
PLoS ONE
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
PLoS ONE
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbe5a2baed3e9800c0d58bbdf2e7b537
http://europepmc.org/articles/PMC3741164?pdf=render
http://europepmc.org/articles/PMC3741164?pdf=render
Autor:
Salome De Almeida, Abhimanyu Garg, Elif Arioglu, Anne M. Bowcock, Nurullah Akkoc, Simeon I. Taylor, Anil K. Agarwal, Robert Barnes
Publikováno v:
Nature Genetics. 31:21-23
Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. We report several different mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab490fc480d3ffda0c6a579042b81f4
https://doi.org/10.1038/ng880
https://doi.org/10.1038/ng880
Autor:
Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A. Belo
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Abstract Background Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CH
Externí odkaz:
https://doaj.org/article/184c971cca324b0da5b386ef90549b05