Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Valadares, Er"'
Autor:
Braunlin, E, Rosenfeld, H, Kampmann, C, Johnson, J, Beck, M, Giugliani, R, Guffon, N, Ketteridge, D, Sá Miranda CM, Scarpa, M, Schwartz, Iv, Leão Teles, E, Wraith, Je, Barrios, P, Dias da Silva, E, Kurio, G, Richardson, M, Gildengorin, G, Hopwood, Jj, Imperiale, M, Schatz, A, Decker, C, Harmatz, P, CollaboratorsWaterson J, MPS VI Study G. r. o. u. p., Gizzi, E, Amraoui, Y, Victor, B, Arroyo, J, Bennett Jones DN, Bernard, P, de Villemeur, B, Boy, R, Coopman, E, Korinthenberg, R, Kretz, M, Lin, Sp, Martins, Am, O'Meara, A, Pastores, G, Pavone, L, Barone, RITA MARIA ELISA, Fiumara, Agata, Sorge, G, Pozzi, S, Preiss, U, Santos, Es, Souza, Ic, Silva, Lc, Valadares, Er, Keppen, L, Sillence, D, Lubitz, L, Frischman, W, Simon, J, Lee, C, Oates, S, Waber, L, Pais, R, Arash, L, Steiner, R, Whitley, Cb, Kaplan, P, Plecko, B.
Publikováno v:
Journal of inherited metabolic disease, vol 36, iss 2
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease
Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec7303212879361342e9a4ce56e8ee23
https://doi.org/10.5167/uzh-89163
https://doi.org/10.5167/uzh-89163
Akademický článek
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Autor:
Sebastian Kalamajski, H. Rosemarie Davidson, A. Belinda Campos-Xavier, Eugênia Ribeiro Valadares, Goranka Tanackovich, Andrea Superti-Furga, Christine Hall, Daniel H. Cohn, Massimiliano Rossi, Generoso Andria, R. Curtis Rogers, Shiro Ikegawa, Diana Ballhausen, André Mégarbané, Michael D. Briggs, Sheila Unger, David L. Rimoin, Claire L. Hartley, Rainer König, Richard H Scott, Luisa Bonafé, Ralph S. Lachman, Eric D. Boyden, John F. Bateman, Pierre-Simon Jouk, Geert Mortier, Philippe Suarez, Trevor L. Cameron, Matthew L. Warman, Hirotake Sawada, Gen Nishimura
Publikováno v:
American journal of human genetics
The American journal of human genetics
The American journal of human genetics
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17693705418a6f70813311e158a09507
https://doi.org/10.1016/j.ajhg.2011.10.016
https://doi.org/10.1016/j.ajhg.2011.10.016
Autor:
Diniz NLF; Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil., Parlato-Oliveira E; Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil.; CRPMS, UFR Études Psychanalytiques, Université Paris Diderot, Paris, France.; CRPMS, Université de Paris, Paris, France., Pimenta PGA; Instituto Langage, São Paulo, Brasil., Araújo LA; Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil., Valadares ER; Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil.
Publikováno v:
Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2022 Jun; Vol. 80 (6), pp. 620-630.
Autor:
Alves Júnior AC; Federal University of Minas Gerais, School of Medicine, Graduate Program in Child and Adolescent Health, Av. Prof. Alfredo Balena, 190 - Sala 503, Belo Horizonte Cep: 30130-100, Minas Gerais, Brazil., Daker MV; Federal University of Minas Gerais, School of Medicine, Department of Mental Health, Av. Prof. Alfredo Balena, 190 - Sala 235, Belo Horizonte Cep: 30130-100, Minas Gerais, Brazil., Machado AMC; Federal University of Minas Gerais, School of Medicine, Department of Anatomy and Image, Av. Prof. Alfredo Balena, 190 - Sala 179, Belo Horizonte Cep: 30130-100, Minas Gerais, Brazil.; Pontifical Catholic University of Minas Gerais, Graduate Program in Informatics, Av. Itaú, 525, Dom Cabral, Belo Horizonte Cep: 30535012, Minas Gerais, Brazil., Luna AS; Federal University of Minas Gerais, School of Medicine, Graduate Program in Child and Adolescent Health. Av. Prof. Alfredo Balena, 190 - Sala 503, Belo Horizonte Cep: 30130-100, Minas Gerais, Brazil., Valladares Neto DC; Clínica do Sono, Alameda do Ingá, 780, Vale do Sereno, Nova Lima Cep: 34006-042, Minas Gerais, Brazil., Valadares ER; Federal University of Minas Gerais, School of Medicine, Graduate Program in Child and Adolescent Health, Av. Prof. Alfredo Balena, 190 - Sala 503, Belo Horizonte Cep: 30130-100, Minas Gerais, Brazil.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Apr 18; Vol. 31, pp. 100870. Date of Electronic Publication: 2022 Apr 18 (Print Publication: 2022).
Autor:
Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Strong A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Shen KM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cassiman D; University Hospitals and University of Leuven, Metabolic Center, Leuven, Belgium., Van Dyck M; University Hospitals and University of Leuven, Pediatric Nephrology, Leuven, Belgium., Linhares ND; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Valadares ER; CENTRARE-Centro de Referência em fendas orofaciais, Fundação Benjamin Guimarães-Hospital da Baleia, Belo Horizonte, Brazil., Wang T; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pena SDJ; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Laboratório Gene-Núcleo de Genética Médica, Belo Horizonte, Brazil., Jaeken J; University Hospitals and University of Leuven, Metabolic Center, Leuven, Belgium., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA., Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hing A; Division of Genetics, Seattle Children's Hospital, Seattle, WA, USA., Chow P; Division of Genetics, Seattle Children's Hospital, Seattle, WA, USA., Ganguly A; Department of Genetics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Scholz T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Philipp D; Department of Neonatology and Pediatric Intensive Care Medicine, University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@email.chop.edu.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@email.chop.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Apr; Vol. 23 (4), pp. 637-644. Date of Electronic Publication: 2020 Nov 27.
Autor:
Teixeira SA; Department of Social and Preventive Dentistry, Faculty of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Santos PCM; Faculty of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Carneiro TCB; Orthopaedics and Traumatology Sector, Rehabilitation Association of Minas Gerais, Belo Horizonte, Brazil., Paiva SM; Department of Pediatric Dentistry IFaculty of Dentistry, Federal University of Minas Gerais, Belo Horizonte, Brazil., Valadares ER; Department of Pediatric, Hospital da Baleia, Belo Horizonte, Brazil., Borges-Oliveira AC; Department of Social and Preventive Dentistry, Faculty of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
Publikováno v:
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry [Spec Care Dentist] 2021 Mar; Vol. 41 (2), pp. 170-177. Date of Electronic Publication: 2021 Jan 13.
Autor:
Deps TD; Department of Pediatric Dentistry, Faculty of Dentistry, Universidade Federal de Minas Gerais (UFMG), Av. Antônio Carlos, 6627 Campus Pampulha, Belo Horizonte, MG, 31270-901, Brazil. tahyna@hotmail.com., França EC; Department of Restorative Dentistry, Faculty of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil., Valadares ER; Department of Complementary Propaedeutic, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil., Nicolau B; Oral Health and Society Research Unit, Faculty of Dentistry, McGill University, Montreal, Canada., Pordeus IA; Department of Pediatric Dentistry, Faculty of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil., Borges-Oliveira AC; Department of Dental Public Health, Faculty of Dentistry, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
Publikováno v:
European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry [Eur Arch Paediatr Dent] 2021 Feb; Vol. 22 (1), pp. 13-19. Date of Electronic Publication: 2020 Jan 31.
Autor:
Nolasco DM; Programa de Pós-Graduação Saúde da Criança e do adolescente, Faculdade de Medicina da Universidade Federal de Minas Gerais, Brazil., Fortes ICP; Departmento de Química da Universidade Federal de Minas Gerais, Brazil., Valadares ER; Programa de Pós-Graduação Saúde da Criança e do adolescente, Faculdade de Medicina da Universidade Federal de Minas Gerais, Brazil.; Laboratório de Erros Inatos do Metabolismo do Hospital das Clínicas da da Universidade Federal de Minas Gerais, Brazil.
Publikováno v:
Biomedical chromatography : BMC [Biomed Chromatogr] 2020 Nov; Vol. 34 (11), pp. e4931. Date of Electronic Publication: 2020 Jul 13.
Autor:
Alegra T; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Sperb-Ludwig F; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Guarany NR; Occupational Therapy Faculty, Federal University of Pelotas, Pelotas, Brazil., Ribeiro EM; Hospital Infantil Albert Sabin, Fortaleza, Brazil., Lourenço CM; Ribeirão Preto Clinics Hospital, Universidade de São Paulo, Ribeirão Preto, Brazil., Kim CA; Genetics Unit, Instituto da Criança, School of Medicine, Universidade de São Paulo, São Paulo, Brazil., Valadares ER; Department of Complementary Propaedeutics, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil., Galera MF; Department of Pediatrics, School of Medicine, Federal University of Mato Grosso, Cuiabá, Brazil., Acosta AX; Faculdade de Medicina, Departamento de Pediatria, Setor de Genética, Universidade Federal da Bahia, Salvador, Brazil., Horovitz DDG; Department of Genetics, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira, Fiocruz, Rio de Janeiro, Brazil., Schwartz IVD; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Publikováno v:
Journal of pediatric genetics [J Pediatr Genet] 2019 Dec; Vol. 8 (4), pp. 198-204. Date of Electronic Publication: 2019 Sep 24.