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AutorHuber, Céline
AutorDelezoide, Anee-Lise
AutorGuimiot, Fabien
AutorBaumann, Clarisse
AutorMalan, Valérie
AutorMerrer, Martine Le
AutorSilva, Daniela Bezerra Da
AutorBonneau, Dominique
AutorChatelain, Pierre
AutorChu, Carol
AutorClark, Robin
AutorCox, Helen
AutorEdery, Patrick
AutorEdouard, Thomas
AutorFano, Virginia
AutorGibson, Kate
AutorGillessen-Kaesbach, Gabriele
AutorGiovannucci-Uzielli, Maria-Luisa
AutorGraul-Neumann, Luitgard Margarete
AutorHagen, Johana-Maria van
AutorHest, Liselot van
AutorHorovitz, Dafne Dain Gandelman
AutorMelki, Judith
AutorPartsch, Carl-Joachim
AutorPlauchu, Henry
AutorRajab, Anna
AutorRossi, Massimiliano
AutorSillence, David
AutorSteichen-Gersdorf, Elisabeth
AutorStewart, Helen
AutorUnger, Sheila
AutorZenker, Martin
AutorMunnich, Arnold
AutorCormier-Daire, Valérie
Fecha de acceso2015-10-09T14:36:06Z
Fecha de disponibilización2015-10-09T14:36:06Z
Fecha de publicación2009
ReferenciaHUBER, Céline et al. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European journal of human genetics, London, v. 17, p. 395-400, 2009.pt_BR
ISSN1018-4813
URIhttps://www.arca.fiocruz.br/handle/icict/11925
Idiomaengpt_BR
EditorNature Publishing Grouppt_BR
Derechos de autorrestricted access
TítuloA large-scale mutation search reveals genetic heterogeneity in 3M syndromept_BR
Tipo del documentoArticle
DOI10.1038/ejhg.2008.200pt_BR
Resumen en InglésThe 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation. Studying a series of 33 novel cases of 3M syndrome, we have identified deleterious CUL7 mutations in 23/33 patients, including 19 novel mutations and one paternal isodisomy of chromosome 6 encompassing a CUL7 mutation. Lack of mutations in 10/33 cases and exclusion of the CUL7 locus on chromosome 6p21.1 in six consanguineous families strongly support the genetic heterogeneity of the 3M syndrome.pt_BR
AfiliaciónUniversité Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France.pt_BR
AfiliaciónUniversité Paris Diderot. Department of Developmental Biology. Paris, France.pt_BR
AfiliaciónUniversité Paris Diderot. Department of Developmental Biology. Paris, France.pt_BR
AfiliaciónHôpital Robert Debre. Department of Genetics. Paris, France.pt_BR
AfiliaciónUniversité Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France.pt_BR
AfiliaciónUniversité Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France.pt_BR
AfiliaciónCentre Hospitalier Universitaire Sainte-Justine. Service de génétique. Montreal, Canada.pt_BR
AfiliaciónCentre Hospitalier Universitaire Sainte-Justine. Department of Biochemistry. Medical Genetics. Angers, Francept_BR
AfiliaciónHopital Debrousse. Service d’endocrinologie. Lyon, France.pt_BR
AfiliaciónHospitals Trust. Yorkshire Regional Genetic Service. Leeds Teaching. Leeds, UK.pt_BR
AfiliaciónLoma Linda School of Medicine. Division of Clinical Genetics. Department of Pediatrics. Loma Linda, USA.pt_BR
AfiliaciónBirmingham Women’s Hospital. West Midlands Regional Clinical Genetics Service. Clinical Genetics Unit. Birmingham, UK.pt_BR
AfiliaciónHospices Civils de Lyon. Service de Cytogénétique Constitutionnelle. Lyon, France.pt_BR
AfiliaciónHopital Purpan. Service d’Endocrinologie Pédiatrique. Toulouse, France.pt_BR
AfiliaciónHospital JP Garrahan, Combate de los Pozos 1881. Buenos Aires, Argentina.pt_BR
AfiliaciónRoyal Children’s Hospital. Genetic Health Queensland. Brisbane, Australia.pt_BR
AfiliaciónUniversität zu Lübeck. Institut für Humangenetik. Lübeck, Germany.pt_BR
AfiliaciónUniversity of Florence. Genetics and Molecular Medicine. Department of Paediatrics. Firenze, Italy.pt_BR
AfiliaciónInstitute of Human Genetics. Charité. Campus Virchow-Klinikum. Berlin, Germany.pt_BR
AfiliaciónVU University Medical Centre. Department of Clinical Genetics. Amsterdam, The Netherlands.pt_BR
AfiliaciónVU University Medical Centre. Department of Clinical Genetics. Amsterdam, The Netherlands.pt_BR
AfiliaciónFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro. RJ, Brasil.pt_BR
AfiliaciónHadassah University Hospital. Department of Human Genetics. Jerusalem, Israel.pt_BR
AfiliaciónKlinik für Kinder und Jugendliche. Städtische Kliniken Esslingen.Esslingen, Germany.pt_BR
AfiliaciónHôpital de l’Hôtel-Dieu. Service de Génétique. Lyon, France.pt_BR
AfiliaciónRoyal Hospital, Goverment of Muscat. Oman, UAE.pt_BR
AfiliaciónFederico II University. Department of Pediatrics. Naples, Italy.pt_BR
AfiliaciónThe Children’s Hospital at Westmead Clinical School. Discipline of Genetic Medicine. Westmead, Australia.pt_BR
AfiliaciónUniversitätsklinik für Kinder-und Jugendheilkunde. Innsbruck, Austria.pt_BR
AfiliaciónChurchill Hospital. Department of Clinical Genetics. Oxford, UK.pt_BR
AfiliaciónInstitute of Human Genetics. Freiburg, Germany.pt_BR
AfiliaciónUniversity of Erlangen-Nuremberg. University Hospital. Institute of Human Genetics. Erlangen, Germany.pt_BR
AfiliaciónUniversité Paris Descartes. Department of Genetics. Paris, France / Hôpital Necker Enfants Malades, Paris, France.pt_BR
Palavras clave en InglêsCUL7pt_BR
Palavras clave en InglêsPaternal Isodisomy of Chromosome 6pt_BR
Palavras clave en InglêsGenetic Heterogeneity of 3M Syndromept_BR
DeCSCromossomos Humanos Par 6pt_BR
DeCSHeterogeneidade Genéticapt_BR


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