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Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Daga, Ankana; Majmundar, Amar J; Braun, Daniela A; Gee, Heon Yung; Lawson, Jennifer A; Shril, Shirlee; Jobst-Schwan, Tilman; Vivante, Asaf; Schapiro, David; Tan, Weizhen; Warejko, Jillian K; Widmeier, Eugen; Nelson, Caleb P; Fathy, Hanan M; Gucev, Zoran; Soliman, Neveen A; Hashmi, Seema; Halbritter, Jan; Halty, Margarita; Kari, Jameela A; El-Desoky, Sherif; Ferguson, Michael A; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daouk, Ghaleb H; Rodig, Nancy M; Katz, Avi; Hanna, Christian; Schwaderer, Andrew L; Sayer, John A; Wassner, Ari J; Mane, Shrikant; Lifton, Richard P; Milosevic, Danko; Tasic, Velibor; Baum, Michelle A; Hildebrandt, Friedhelm.
  • Daga A; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Majmundar AJ; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Braun DA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Gee HY; Department of Pharmacology, Brain Korea 21 Program for Leading Universities and Students Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea.
  • Lawson JA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shril S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Jobst-Schwan T; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Vivante A; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Schapiro D; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Tan W; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Warejko JK; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Widmeier E; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Nelson CP; Department of Urology and General Pediatrics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Fathy HM; Pediatric Nephrology Unit, Alexandria University, Alexandria, Egypt.
  • Gucev Z; Medical Faculty Skopje, University Children's Hospital, Skopje, Macedonia.
  • Soliman NA; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt; Egyptian Group for Orphan Renal Diseases, Cairo, Egypt.
  • Hashmi S; Department of Pediatric Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
  • Halbritter J; Division of Endocrinology and Nephrology, Department of Internal Medicine, University Clinic Leipzig, Leipzig, Germany.
  • Halty M; School of Medicine, Department of Pediatrics, Centro Hospitalario Pereira Rossell, Montevideo, Uruguay.
  • Kari JA; Pediatric Nephrology Center of Excellence and Pediatrics Department, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
  • El-Desoky S; Pediatric Nephrology Center of Excellence and Pediatrics Department, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
  • Ferguson MA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Somers MJG; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Traum AZ; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Stein DR; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Daouk GH; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Rodig NM; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Katz A; Division of Pediatric Nephrology, University of Minnesota, Minneapolis, Minnesota, USA.
  • Hanna C; Division of Pediatric Nephrology, University of Minnesota, Minneapolis, Minnesota, USA.
  • Schwaderer AL; Division of Nephrology, Department of Pediatrics, Nationwide Children's Hospital/The Ohio State University, Columbus, Ohio, USA.
  • Sayer JA; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.
  • Wassner AJ; Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.
  • Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, Connecticut, USA; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.
  • Milosevic D; Department of Pediatric Nephrology, Dialysis and Transplantation, Clinical Hospital Center Zagreb, University of Zagreb Medical School, Zagreb, Croatia.
  • Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje, Macedonia.
  • Baum MA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Kidney Int ; 93(1): 204-213, 2018 01.
Article en En | MEDLINE | ID: mdl-28893421
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Nefrolitiasis / Secuenciación del Exoma / Mutación / Nefrocalcinosis Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Nefrolitiasis / Secuenciación del Exoma / Mutación / Nefrocalcinosis Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2018 Tipo del documento: Article