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Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)

Autor: Janse F (AUTHOR), de With LM (AUTHOR), Duran KJ (AUTHOR), Kloosterman WP (AUTHOR), Goverde AJ (AUTHOR), Lambalk CB (AUTHOR), Laven JS (AUTHOR), Fauser BC (AUTHOR), Giltay JC (AUTHOR), Dutch Primary Ovarian Insufficiency Consortium (CORPORATE AUTHOR)

Publikováno v: Fertility & Sterility. Jan2012, Vol. 97 Issue 1, p141-6.e2. 1p.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Autor: Rumping L; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Department of Pediatrics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Tessadori F; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht University, Utrecht CT, The Netherlands., Pouwels PJW; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam HV, The Netherlands., Vringer E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Wijnen JP; Department of Radiology, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Bhogal AA; Department of Radiology, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Savelberg SMC; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Duran KJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Bakkers MJG; Department of Microbiology and Immunobiology, Harvard Medical School, Boston MA, USA., Ramos RJJ; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Schellekens PAW; Department of Ophthalmology, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Klomp DWJ; Department of Radiology, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Black GCM; Division of Evolution and Genomic Sciences, The University of Manchester, Manchester M139WL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester M139WL, UK., Taylor RL; Division of Evolution and Genomic Sciences, The University of Manchester, Manchester M139WL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester M139WL, UK., Bakkers JPW; Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht University, Utrecht CT, The Netherlands.; Department of Medical Physiology, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Prinsen HCMT; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., van der Knaap MS; Department of Child Neurology, VU University Medical Center, Amsterdam HV, The Netherlands., Dansen TB; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Molecular Cancer Research, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Rehmann H; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Molecular Cancer Research, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Zwartkruis FJT; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Molecular Cancer Research, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Houwen RHJ; Department of Pediatrics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., van Haaften G; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Verhoeven-Duif NM; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., Jans JJM; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands., van Hasselt PM; Department of Pediatrics, University Medical Center Utrecht, Utrecht University, Utrecht CX, The Netherlands.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2019 Jan 01; Vol. 28 (1), pp. 96-104.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Autor: van Rijn JM; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht University, Utrecht, The Netherlands; Regenerative Medicine Center, Utrecht University, Utrecht, The Netherlands., Ardy RC; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Kuloğlu Z; Department of Pediatric Gastroenterology, Ankara University School of Medicine, Ankara, Turkey., Härter B; Division of Paediatric Surgery, Department of Visceral, Transplant and Thoracic Surgery, Center of Operative Medicine, Innsbruck, Austria., van Haaften-Visser DY; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht University, Utrecht, The Netherlands; Regenerative Medicine Center, Utrecht University, Utrecht, The Netherlands., van der Doef HPJ; Department of Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands., van Hoesel M; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht University, Utrecht, The Netherlands; Regenerative Medicine Center, Utrecht University, Utrecht, The Netherlands., Kansu A; Department of Pediatric Gastroenterology, Ankara University School of Medicine, Ankara, Turkey., van Vugt AHM; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht University, Utrecht, The Netherlands; Regenerative Medicine Center, Utrecht University, Utrecht, The Netherlands., Thian M; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Kokke FTM; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht University, Utrecht, The Netherlands., Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria., Başaran MK; Pediatric Gastroenterology Department, Akdeniz University Medicine Hospital, Antalya, Turkey., Kaya NG; Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey., Aksu AÜ; Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey., Dalgıç B; Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey., Ozcay F; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Başkent University, Ankara, Turkey., Baris Z; Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Başkent University, Ankara, Turkey., Kain R; Clinical Institute of Pathology, Medical University of Vienna, Vienna, Austria., Stigter ECA; Molecular Cancer Research, Center Molecular Medicine, Utrecht University, Utrecht, The Netherlands., Lichtenbelt KD; Department of Medical Genetics, Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands., Massink MPG; Department of Medical Genetics, Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands., Duran KJ; Department of Medical Genetics, Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands., Verheij JBGM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Lugtenberg D; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen The Netherlands., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Brouwer HGF; Department of Pediatrics, Elkerliek Hospital, Helmond, The Netherlands., Verkade HJ; Department of Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands., Scheenstra R; Department of Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands., Spee B; Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Sciences, Utrecht University, Utrecht, The Netherlands., Nieuwenhuis EES; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht University, Utrecht, The Netherlands., Coffer PJ; Regenerative Medicine Center, Utrecht University, Utrecht, The Netherlands., Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., van Haaften G; Department of Medical Genetics, Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands., Houwen RHJ; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht University, Utrecht, The Netherlands., Müller T; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Middendorp S; Division of Pediatrics, Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht University, Utrecht, The Netherlands; Regenerative Medicine Center, Utrecht University, Utrecht, The Netherlands. Electronic address: s.middendorp@umcutrecht.nl., Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address: kaan.boztug@rud.lbg.ac.at.

Publikováno v: Gastroenterology [Gastroenterology] 2018 Jul; Vol. 155 (1), pp. 130-143.e15. Date of Electronic Publication: 2018 Mar 29.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Autor: Monroe GR; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht, The Netherlands., Frederix GW; Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute of Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., Savelberg SM; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht, The Netherlands., de Vries TI; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Duran KJ; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht, The Netherlands., van der Smagt JJ; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Terhal PA; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., van Hasselt PM; Department of Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands., Kroes HY; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Verhoeven-Duif NM; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht, The Netherlands., Nijman IJ; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht, The Netherlands., Carbo EC; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht, The Netherlands., van Gassen KL; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Knoers NV; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht, The Netherlands., Hövels AM; Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute of Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands., van Haelst MM; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands., Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands., van Haaften G; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University Medical Center, Utrecht, The Netherlands.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Sep; Vol. 18 (9), pp. 949-56. Date of Electronic Publication: 2016 Feb 04.