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Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Teresa-Rodrigo, María E; Eckhold, Juliane; Puisac, Beatriz; Pozojevic, Jelena; Parenti, Ilaria; Baquero-Montoya, Carolina; Gil-Rodríguez, María C; Braunholz, Diana; Dalski, Andreas; Hernández-Marcos, María; Ayerza, Ariadna; Bernal, María L; Ramos, Feliciano J; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Pié, Juan; Kaiser, Frank J.
Afiliação
  • Teresa-Rodrigo ME; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain.
  • Eckhold J; Section of Functional Genetics, Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany.
  • Puisac B; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain.
  • Pozojevic J; Section of Functional Genetics, Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany.
  • Parenti I; Section of Functional Genetics, Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany; Department of Health Sciences, Medical Genetics, University of Milan, 20122 Milan, Italy.
  • Baquero-Montoya C; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain; Department of Pediatrics, Pablo Tobon Uribe Hospital, 05001000 Medellín, Colombia.
  • Gil-Rodríguez MC; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain.
  • Braunholz D; Section of Functional Genetics, Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany.
  • Dalski A; Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany.
  • Hernández-Marcos M; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain.
  • Ayerza A; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain.
  • Bernal ML; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain.
  • Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain.
  • Wieczorek D; Institute of Human Genetics, University Hospital Düsseldorf, Heinrich-Heine University, 40225 Düsseldorf, Germany.
  • Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany.
  • Pié J; Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain.
  • Kaiser FJ; Section of Functional Genetics, Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany.
Biomed Res Int ; 2016: 8742939, 2016.
Article em En | MEDLINE | ID: mdl-26925417
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Heterogeneidade Genética / Síndrome de Cornélia de Lange Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Heterogeneidade Genética / Síndrome de Cornélia de Lange Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article