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Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Vasileiou, Georgia; Hoyer, Juliane; Thiel, Christian T; Schaefer, Jan; Zapke, Maren; Krumbiegel, Mandy; Kraus, Cornelia; Zweier, Markus; Uebe, Steffen; Ekici, Arif B; Schneider, Michael; Wiesener, Michael; Rauch, Anita; Faschingbauer, Florian; Reis, André; Zweier, Christiane; Popp, Bernt.
Afiliação
  • Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Thiel CT; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Schaefer J; Department of Pediatrics and Adolescent Medicine, University Hospital of Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Zapke M; Department of Pediatrics and Adolescent Medicine, University Hospital of Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Krumbiegel M; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Uebe S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Ekici AB; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Schneider M; Department of Obstetrics and Gynecology, Erlangen University Hospital, Erlangen, Germany.
  • Wiesener M; Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
  • Faschingbauer F; Department of Obstetrics and Gynecology, Erlangen University Hospital, Erlangen, Germany.
  • Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Popp B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Prenat Diagn ; 39(12): 1136-1147, 2019 11.
Article em En | MEDLINE | ID: mdl-31498910
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Cromossomos Humanos Par 17 / Deleção Cromossômica / Análise em Microsséries / Doenças Renais Císticas / Fator 1-beta Nuclear de Hepatócito Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Cromossomos Humanos Par 17 / Deleção Cromossômica / Análise em Microsséries / Doenças Renais Císticas / Fator 1-beta Nuclear de Hepatócito Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Prenat Diagn Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha