Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Miguel Gonçalves-Rocha"'
Publikováno v:
Frontiers in Genetics, Vol 8 (2017)
Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormal
Externí odkaz:
https://doaj.org/article/98fa8fc6fb37440c93d103907890946f
Autor:
Cláudia Patraquim, Albina Silva, Ângela Pereira, Miguel Gonçalves-Rocha, João Fernandes, Almerinda Pereira
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 5, Iss 1, Pp e050108-e050108 (2015)
Retinoic acid is a derivative of vitamin A. Retinoic acid embryopathy is an association of malformations caused by the teratogenic effect of retinoic acid, a drug used for the treatment of cystic acne. Isotretinoin is also known as 13-cis-retinoic
Externí odkaz:
https://doaj.org/article/85de7f718e4f4c12b77abf4aca6f7d93
Publikováno v:
Case Reports in Medicine, Vol 2015 (2015)
Introduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alop
Externí odkaz:
https://doaj.org/article/ac0639ed61484840bcda419b15aa2feb
Autor:
Daisy Rymen, Romain Peanne, María B Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs
Publikováno v:
PLoS Genetics, Vol 9, Iss 12, p e1003989 (2013)
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient.
Externí odkaz:
https://doaj.org/article/26b7f3c5a1d047a49cb9d2a44df25d8e
Autor:
Vasco Carvalho, Diana Rita Oliveira, Marta Ribeiro Silva, Lídia Leite, Miguel Gonçalves Rocha, Liliana Pinheiro, Almerinda Pereira
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 1, Pp e110128-e110128 (2021)
Introduction: Stickler syndrome is a connective tissue disorder that can include midfacial underdevelopment and cleft palate, ocular findings (myopia, cataract, and retinal detachment), hearing loss that is both conductive and sensorineural and mild
Externí odkaz:
https://doaj.org/article/1b36901edbc04c2289d2a5c1de9076ff
Autor:
Miguel Gonçalves-Rocha, Vânia Machado, Alexandra Leonardo, Milena Paneque, Fidjy Rodrigues, Márcia Carvalho, Ana Berta Sousa, Jorge A. Saraiva, Jorge Sequeiros, Marina Serra de Lemos, Patrício Costa
Monitoring the quality of genetic counselling is essential to ensure appropriate provision. This study describes the development and initial psychometric validation of a novel scale for genetic counselling quality evaluation by patients. A deductive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91b302bd7643ccdc03d157a95b3bd65b
https://hdl.handle.net/10216/140074
https://hdl.handle.net/10216/140074
Autor:
Patrícia Rodrigues, Jorge Almeida, Ana Lebreiro, Alexandra Toste, Alexandra Sousa, Cristina Cruz, Oana Moldovan, Quitéria Rato, Renata Aparecida Rodrigues de Oliveira, Elisabete Martins, Natália António, Sofia Granja, Miguel Gonçalves Rocha, Mafalda Bourbon
Publikováno v:
Revista Portuguesa de Cardiologia, Vol 39, Iss 10, Pp 597-610 (2020)
In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3aabca9ddbd9b9f1875dd1a4e6415cf
https://hdl.handle.net/10400.18/7506
https://hdl.handle.net/10400.18/7506
Autor:
Renata Aparecida Rodrigues de Oliveira, Alexandra Toste, Ana Lebreiro, Jorge Almeida, Patrícia Rodrigues, Oana Moldovan, Miguel Gonçalves Rocha, Quitéria Rato, Alexandra Sousa, Natália António, Cristina Cruz, Mafalda Bourbon, Sofia Granja, Elisabete Martins
Publikováno v:
Revista Portuguesa de Cardiologia (English Edition), Vol 39, Iss 10, Pp 597-610 (2020)
In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new pheno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fbc4f951ae94d4523bc1e51f7616743
https://pubmed.ncbi.nlm.nih.gov/33036867
https://pubmed.ncbi.nlm.nih.gov/33036867
Autor:
Alexandra Fernandes, Cristina Madureira, Tânia Lopes, Miguel Gonçalves Rocha, António Bandeira, Felisbela Rocha, Sónia Carvalho
Publikováno v:
Ecos do Minho, Vol 10, Iss 1, Pp 25-30 (2016)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::1f82dbc15ab348357213b55d5ae89bd1
Autor:
Corinne Ducreux, Constance Beyler, Damien Bonnet, Marilyne Lévy, Claire Dauphin, Bérénice Doray, Alice Maltret, Michel Teboul, Philippe Acar, François Heitz, Marie-Pierre Cordier-Alex, Christel Thauvin, Jean-René Lusson, Damien Sanlaville, Rajae El Malti, Joelle Roume, Jacqueline Vigneron, Miguel Gonçalves-Rocha, Patricia Blanchet, Magali Veyrier, Patrice Bouvagnet, Céline Gronier, Hui Liu, François Marçon
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2016, 24 (2), pp.228-236. ⟨10.1038/ejhg.2015.105⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (2), pp.228-236. ⟨10.1038/ejhg.2015.105⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (2), pp.228-236. 〈http://www.nature.com/ejhg/journal/v24/n2/full/ejhg2015105a.html〉. 〈10.1038/ejhg.2015.105〉
European Journal of Human Genetics, 2016, 24 (2), pp.228-236. ⟨10.1038/ejhg.2015.105⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (2), pp.228-236. ⟨10.1038/ejhg.2015.105⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (2), pp.228-236. 〈http://www.nature.com/ejhg/journal/v24/n2/full/ejhg2015105a.html〉. 〈10.1038/ejhg.2015.105〉
International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59315f94f4498dd43adfc36d09c0fab6
https://u-bourgogne.hal.science/hal-01404211
https://u-bourgogne.hal.science/hal-01404211