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Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis.
Amar, Ali; Majmundar, Amar J; Ullah, Ihsan; Afzal, Ayesha; Braun, Daniela A; Shril, Shirlee; Daga, Ankana; Jobst-Schwan, Tilman; Ahmad, Mumtaz; Sayer, John A; Gee, Heon Yung; Halbritter, Jan; Knöpfel, Thomas; Hernando, Nati; Werner, Andreas; Wagner, Carsten; Khaliq, Shagufta; Hildebrandt, Friedhelm.
  • Amar A; Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Majmundar AJ; Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore, Pakistan.
  • Ullah I; Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Afzal A; Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Braun DA; Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore, Pakistan.
  • Shril S; Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Daga A; Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Jobst-Schwan T; Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Ahmad M; Division of Nephrology, Department of Medicine, Harvard Medical School, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Sayer JA; Ganga Ram Hospital and Fatima Jinnah Medical University, Lahore, Pakistan.
  • Gee HY; Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK.
  • Halbritter J; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Freeman Road, Newcastle, NE7 7DN, UK.
  • Knöpfel T; NIHR Newcastle Biomedical Research Centre, Newcastle, NE4 5PL, UK.
  • Hernando N; Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, South Korea.
  • Werner A; Division of Nephrology, Department of Internal Medicine, University of Leipzig, Leipzig, Germany.
  • Wagner C; Institute of Physiology, University of Zurich, Zurich, Switzerland.
  • Khaliq S; National Center of Competence in Research NCCR Kidney.CH, Zurich, Switzerland.
  • Hildebrandt F; Institute of Physiology, University of Zurich, Zurich, Switzerland.
Hum Genet ; 138(3): 211-219, 2019 Mar.
Article en En | MEDLINE | ID: mdl-30778725
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Perfilación de la Expresión Génica / Nefrolitiasis / Estudios de Asociación Genética Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Infant / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Perfilación de la Expresión Génica / Nefrolitiasis / Estudios de Asociación Genética Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Animals / Child / Child, preschool / Female / Humans / Infant / Male País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article