المؤلفون: Gordon, CT, Weaver, KN, Zechi-Ceide, RM, Madsen, EC, Tavares, ALP, Oufadem, M, Kurihara, Y, Adameyko, I, Picard, A, Breton, S, Pierrot, S, Biosse-Duplan, M, Voisin, N, Masson, C, Bole-Feysot, C, Nitschke, P, Delrue, MA, Lacombe, D, Guion-Almeida, ML, Moura, PP, Garib, DG, Munnich, A, Ernfors, P, Hufnagel, RB, Hopkin, RJ, Kurihara, H, Saal, HM, Weaver, DD, Katsanis, N, Lyonnet, S, Golzio, C, Clouthier, DE, Amiel, J

المصدر: American journal of human genetics. 96(4):519-531

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131007926

المؤلفون: Twigg, SR, Babbs, C, van den Elzen, ME, Goriely, A, Taylor, S, McGowan, SJ, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, SJ, Zechi-Ceide, RM, Hoogeboom, JA, Pober, BR, Toriello, HV, Wall, SA, Rita Passos-Bueno, M, Brunner, HG, Mathijssen, IM, Wilkie, AO

المساهمون: Plastic and Reconstructive Surgery and Hand Surgery

المصدر: Human Molecular Genetics
Human Molecular Genetics, 22, 1654-62
Human Molecular Genetics, 22, 8, pp. 1654-62
Human Molecular Genetics, 22(8), 1654-1662. Oxford University Press

مصطلحات موضوعية: Hemizygote, Male, Heterozygote, Sex Characteristics, Mosaicism, Infant, Newborn, Infant, Articles, Ephrin-B1, Pedigree, Craniofacial Abnormalities, Phenotype, X Chromosome Inactivation, Child, Preschool, Humans, Point Mutation, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Child, Gene Deletion

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6454c4691ce436a971e3508f0b88a145
http://europepmc.org/articles/PMC3605834

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Mazzonetto PC; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Villela D; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Krepischi ACV; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Pierry PM; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Bonaldi A; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Almeida LGD; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Paula MG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Bürger MC; Diagnósticos da América S.A., DASA, São Paulo, Brazil., de Oliveira AG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Fonseca GGG; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Giugliani R; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Casa dos Raros - House of Rares, Centro de Atenção Integral e Treinamento em Doenças Raras, Porto Alegre, Brazil.; INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil., Riegel-Giugliani M; Casa dos Raros - House of Rares, Centro de Atenção Integral e Treinamento em Doenças Raras, Porto Alegre, Brazil.; INAGEMP, Instituto Nacional de Genética Médica Populacional, Porto Alegre, Brazil., Bertola D; Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Yamamoto GL; Diagnósticos da América S.A., DASA, São Paulo, Brazil.; Instituto da Criança, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Passos-Bueno MR; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Campos GDS; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Machado ACD; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil., Mazzeu JF; Faculdade de Medicina, Universidade de Brasília, Brasília, Brazil., Perrone E; Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, Brazil., Zechi-Ceide RM; Department of Clinical Genetics and Molecular Biology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Kokitsu-Nakata NM; Department of Clinical Genetics and Molecular Biology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Vieira TP; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Steiner CE; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Gil-da-Silva-Lopes VL; Department of Translational Medicine - Medical Genetics and Genomic Medicine, School of Medical Sciences, University of Campinas, São Paulo, Brazil., Vieira DKR; Municipal Secretary of Health of Angra dos Reis, Rio de Janeiro, Brazil.; National Institute of Women, Children and Adolescents Health Fernandes Figueira/Oswaldo Cruz Foundation (IFF/FIOCRUZ), Rio de Janeiro, Brazil., Boy R; State University of Rio de Janeiro, Rio de Janeiro, Brazil., de Pina-Neto JM; Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, São Paulo, Brazil., Scapulatempo-Neto C; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Milanezi F; Diagnósticos da América S.A., DASA, São Paulo, Brazil., Rosenberg C; The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.; Diagnósticos da América S.A., DASA, São Paulo, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun 25, pp. e63802. Date of Electronic Publication: 2024 Jun 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

المؤلفون: Serigatto HR; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Zechi-Ceide RM; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Parizotto I; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Kokitsu-Nakata NM; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63561. Date of Electronic Publication: 2024 Feb 14.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: CHARGE Syndrome*/genetics , CHARGE Syndrome*/diagnosis , CHARGE Syndrome*/pathology , CHARGE Syndrome*/complications , Phenotype* , DNA Helicases*/genetics, Humans ; DNA-Binding Proteins/genetics ; Male ; Female ; Mutation ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/pathology ; Limb Deformities, Congenital/diagnosis