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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions.
Deutsch, Konstantin; Klämbt, Verena; Kitzler, Thomas M; Jobst-Schwan, Tilman; Schneider, Ronen; Buerger, Florian; Seltzsam, Steve; El Desoky, Sherif; Kari, Jameela A; Hafeez, Farkhanda; Szczepanska, Maria; Eid, Loai A; Awad, Hazem S; Al-Saffar, Muna; Soliman, Neveen A; Tasic, Velibor; Nicolas-Frank, Camille; Yousef, Kirollos; Schierbaum, Luca M; Schneider, Sophia; Halawi, Abdul; Elmubarak, Izzeldin; Lemberg, Katharina; Shril, Shirlee; Mane, Shrikant M; Rodig, Nancy; Hildebrandt, Friedhelm.
  • Deutsch K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Klämbt V; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Kitzler TM; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin 13353, Germany.
  • Jobst-Schwan T; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Berlin 10178, Germany.
  • Schneider R; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Buerger F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Seltzsam S; Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.
  • El Desoky S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Kari JA; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Hafeez F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Szczepanska M; Department of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia.
  • Eid LA; Department of Pediatrics, Faculty of Medicine King Abdulaziz University, Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia.
  • Awad HS; Department of Pediatric Nephrology, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.
  • Al-Saffar M; Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice 40-752, Poland.
  • Soliman NA; Dubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates.
  • Tasic V; Dubai Hospital and Al-Jalila Children's Specialty Hospital, Kidney Center of Excellence, Dubai 4545, United Arab Emirates.
  • Nicolas-Frank C; Department of Genetics and Genomics, UAE University, Abu Dhabi 15551, United Arab Emirates.
  • Yousef K; Department of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Schierbaum LM; Department of Pediatrics, Center of Pediatric Nephrology and Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt.
  • Schneider S; Egypt Center for Research and Regenerative Medicine (ECRRM), Cairo 11511, Egypt.
  • Halawi A; Medical Faculty Skopje, University Children's Hospital, Skopje 1000, North Macedonia.
  • Elmubarak I; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Lemberg K; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Mane SM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Rodig N; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
  • Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02215, USA.
Genes Dis ; 11(5): 101111, 2024 Sep.
Article en En | MEDLINE | ID: mdl-38868576
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Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Idioma: En Año: 2024 Tipo del documento: Article