Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Sofia Quental"'
Autor:
Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-4 (2024)
Abstract Background Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, characterized by a spectrum of diverse neurocutaneous manifestations, is caused by heterozygous pathogenic variants in NF1 gene. While patients with NF1 often exhibit
Externí odkaz:
https://doaj.org/article/cfb400650cd94a818d9ff88d77034158
Autor:
Francisco Gonçalves, Pedro Lisboa-Gonçalves, Rita Quental, Susana Fernandes, Sofia Quental, Laurence Michel-Calemard, Claire Goursaud, Sofia Marques, Joana Santos, Isabel Tavares, João Paulo Oliveira
Publikováno v:
Nefrología, Vol 44, Iss 4, Pp 576-581 (2024)
Autosomal dominant tubulointerstitial kidney disease (ADTKD) comprises a heterogeneous group of rare hereditary kidney diseases characterized by family history of progressive chronic kidney disease (CKD) with bland urine sediment, absence of signific
Externí odkaz:
https://doaj.org/article/6055318c514143c99a0e128051c26fff
Publikováno v:
Journal of Kidney Cancer and VHL, Vol 9, Iss 2 (2022)
In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susceptibility to cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma (RCC). Hereditary leiomyomatosis and renal cell cancer (HLRCC) is now
Externí odkaz:
https://doaj.org/article/abb34e41e82548fe8db821ce2fb0f704
Publikováno v:
Neuropediatrics. 54:120-125
Background Biallelic pathogenic variants in AIMP1 gene cause hypomyelinating leukodystrophy type 3, a severe neurodegenerative disorder with early onset characterized by microcephaly, axial hypotonia, epilepsy, spasticity, and developmental delay.Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8066710e65c4639cd047b4c84b32f5b1
https://doi.org/10.1055/s-0042-1760366
https://doi.org/10.1055/s-0042-1760366
Publikováno v:
Cytogenetic and Genome Research. 162:1-9
Next-generation sequencing (NGS) technologies revolutionized the molecular diagnosis of sensorineural hearing loss (SNHL) and are now a standard of care. In this study, 71 Portuguese probands with hereditary SNHL were assessed by whole-exome sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de282ae1eac879cc1c56f10895d2f5db
https://doi.org/10.1159/000523840
https://doi.org/10.1159/000523840
Autor:
Madaleno, Sofia Quental
As lesões músculo-esqueléticas (LME) representam um dos maiores problemas da saúde no trabalho, especialmente devido aos avanços tecnológicos. Cientes desta tendência crescente e dos impactos negativos que poderão ter, não só para os seus t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1437::ebc90e63e92e31f95512b522224348b2
https://hdl.handle.net/10362/150511
https://hdl.handle.net/10362/150511
Publikováno v:
Current Pharmacogenomics and Personalized Medicine. 13:36-40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1f4895145e566440e48e3b8209b2225
https://doi.org/10.2174/1875692113666150703180101
https://doi.org/10.2174/1875692113666150703180101
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
Dissertação de mestrado em Psicologia das Organizações, do Trabalho e dos Recursos Humanos, apresentada à Faculdade de Psicologia e de Ciências da Educação da Universidade de Coimbra O principal objetivo do presente estudo consiste em analisa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2a2e351d9b3feff39d5afe0b83f47dea
https://hdl.handle.net/10316/34231
https://hdl.handle.net/10316/34231
Autor:
Magdalena Ugarte, Alfredo Gusmão, António Amorim, Maria João Prata, Laura Vilarinho, Pilar Rodríguez-Pombo, Sofia Quental
Publikováno v:
Annals of Human Genetics. 73:298-303
Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder of branched-chain amino acid metabolism. In the context of the wide mutational spectrum known for this disease, a few common mutations have been described in populations where fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c352d0a1b79a3bdf07974f70accd8f7
https://doi.org/10.1111/j.1469-1809.2009.00518.x
https://doi.org/10.1111/j.1469-1809.2009.00518.x
Publikováno v:
Scopus-Elsevier
CIÊNCIAVITAE
CIÊNCIAVITAE
Maple syrup urine disease (MSUD) is a rare disorder of branched-chain amino acid (BCAA) metabolism caused by the defective function of branched-chain α-ketoacid dehydrogenase complex (BCKD). Many MSUD-causing mutations have already been described in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9efc5db4642d6b9c4fa134d5a76815
https://doi.org/10.1007/s10545-008-1046-z
https://doi.org/10.1007/s10545-008-1046-z