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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.
Boissel, Sarah; Fallet-Bianco, Catherine; Chitayat, David; Kremer, Valérie; Nassif, Christina; Rypens, Françoise; Delrue, Marie-Ange; Dal Soglio, Dorothée; Oligny, Luc L; Patey, Natalie; Flori, Elisabeth; Cloutier, Mireille; Dyment, David; Campeau, Philippe; Karalis, Aspasia; Nizard, Sonia; Fraser, William D; Audibert, François; Lemyre, Emmanuelle; Rouleau, Guy A; Hamdan, Fadi F; Kibar, Zoha; Michaud, Jacques L.
Afiliação
  • Boissel S; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Fallet-Bianco C; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Chitayat D; Department of Pathology, Université de Montréal, Montreal, Quebec, Canada.
  • Kremer V; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Canada, Ontario.
  • Nassif C; Department of Cytogenetics, Strasbourg University Hospital, Strasbourg, France.
  • Rypens F; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Delrue MA; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Dal Soglio D; Department of Radiology, Radio-oncology and Nuclear Medicine, Université de Montréal, Montreal, Quebec, Canada.
  • Oligny LL; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Patey N; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.
  • Flori E; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Cloutier M; Department of Pathology, Université de Montréal, Montreal, Quebec, Canada.
  • Dyment D; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Campeau P; Department of Pathology, Université de Montréal, Montreal, Quebec, Canada.
  • Karalis A; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Nizard S; Department of Pathology, Université de Montréal, Montreal, Quebec, Canada.
  • Fraser WD; Department of Cytogenetics, Strasbourg University Hospital, Strasbourg, France.
  • Audibert F; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Lemyre E; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Rouleau GA; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Hamdan FF; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.
  • Kibar Z; CHU Sainte-Justine, Montreal, Quebec, Canada.
  • Michaud JL; Department of Pediatrics, Université de Montréal, Montreal, Quebec, Canada.
Genet Med ; 20(7): 745-753, 2018 07.
Article em En | MEDLINE | ID: mdl-29261186
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 6_ODS3_enfermedades_notrasmisibles Problema de saúde: 6_congenital_chromosomal_anomalies / 6_digestive_diseases / 6_kidney_renal_pelvis_ureter_cancer / 6_other_circulatory_diseases / 6_other_respiratory_diseases Assunto principal: Anormalidades Congênitas / Feto / Rim / Nefropatias / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 6_ODS3_enfermedades_notrasmisibles Problema de saúde: 6_congenital_chromosomal_anomalies / 6_digestive_diseases / 6_kidney_renal_pelvis_ureter_cancer / 6_other_circulatory_diseases / 6_other_respiratory_diseases Assunto principal: Anormalidades Congênitas / Feto / Rim / Nefropatias / Proteínas de Neoplasias Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Pregnancy Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá