Idiopathic precocious puberty versus puberty in adopted children; auxological response to gonadotrophin-releasing hormone agonist treatment and final height

Autor: Kempers, MJ, Otten, BJ

Publikováno v: European Journal of Endocrinology; November 2002, Vol. 147 Issue: 5 p609-616, 8p

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Autor: van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Weis D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada., Arberas C; Sección Genética Médica, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina., Baldassarri M; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics, University of Siena, Siena, Italy., Beneteau C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France; Centre Hospitalier Universitaire de Nantes, UF de Foetopathologie et Génétique, Nantes, France; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy., Coutton C; Service de Génétique, Génomique, et Procréation, Centre Hospitalier Universitaire Grenoble Alpes, La Tronche, France; Inserm, CNRS UMR 5309, Institut pour l'Avancée des Biosciences (IAB), Université Grenoble Alpes, Grenoble, France., Dabir T; Department of Genetic Medicine, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom., Dentici ML; Medical Genetics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France; Genetics of Developmental Disorders, Inserm - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France., van Haelst MM; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Amsterdam Reproduction and Development, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Jizi K; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada; Centre de Recherche et Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada., Kempers MJ; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kharbanda M; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mowat D; Center for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia; University of New South Wales, School of Women's and Children's Health, Faculty of Medicine and Health, Kensington, New South Wales, Australia., Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Nicolas C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France; Genetics of Developmental Disorders, Inserm - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France., Novelli A; Translational Cytogenomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Orlando V; Translational Cytogenomics, IRCCS Bambino Gesù Children Hospital, Rome, Italy., Pichon O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Sachdev R; University of New South Wales, School of Women's and Children's Health, Faculty of Medicine and Health, Kensington, New South Wales, Australia; School of Women's and Children's Health, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia., Sandaradura SA; Sydney Children's Hospitals Network, Westmead, New South Wales, Australia; Children's Hospital Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril I Metodij, Skopje, Republic of North Macedonia., Steenbeek D; Department of Rehabilitation Medicine, Maastricht University Medical Center/Adelante, Rehabilitation, Maastricht, The Netherlands., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Tedder MA; Greenwood Genetic Center, Greenwood, SC., Trajkova S; Department of Medical Sciences, University of Torino, Torino, Italy; Molecular Biotechnology Center 'Guido Tarone, ' University of Turin, Turin, Italy., Winer N; Service de Gynécologie-Obstétrique, Centre Hospitalier Universitaire de Nantes, Nantes, France; Nun, INRAE, Physiol, UMR1280 AN, Université de Nantes, Nantes, France., Woods J; Department of Genetics, Valley Children's Hospital, Madera, CA; Stanford University, Palo Alto, CA., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada., Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: santen@lumc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 28; Vol. 27 (1), pp. 101283. Date of Electronic Publication: 2024 Sep 28.

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).

Autor: van de Laar IMBH; Department of Clinical Genetics and Cardiology and VASCERN MSA European Reference Centre, Erasmus MC, University Medical Center Rotterdam, Wytemaweg 80, P.O. Box 2040, 3000 CA, Rotterdam, the Netherlands. Electronic address: i.vandelaar@erasmusmc.nl., Baas AF; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., De Backer J; Department of Cardiology and Center for Medical Genetics Ghent and VASCERN MSA European Reference Centre, Ghent University Hospital, Ghent, Belgium., Blankenstein JD; Department of Vascular Surgery, Amsterdam University Medical Centres (Amsterdam UMC) Location VU Medical Centre (VUMC), Amsterdam, the Netherlands., Dulfer E; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands., Helderman-van den Enden ATJM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Houweling AC; Department of Human Genetics, Amsterdam University Medical Centres (Amsterdam UMC) Location VU Medical Centre (VUMC), Amsterdam, the Netherlands., Kempers MJ; Department of Clinical Genetics and VASCERN MSA European Reference Centre, Radboud University Medical Center, Nijmegen, Netherlands., Loeys B; Center of Medical Genetics and VASCERN MSA European Reference Centre, University Hospital of Antwerp University of Antwerp, Antwerp, Belgium., Malfait F; Department of Cardiology and Center for Medical Genetics Ghent and VASCERN MSA European Reference Centre, Ghent University Hospital, Ghent, Belgium., Robert L; South East Thames Regional Genetics Service, Guy's Hospital, London, UK., Tanteles G; Clinical Genetics Clinic, Cyprus Institute of Neurology & Genetics, 1683, Nicosia, Republic of Cyprus., Frank M; AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares and VASCERN MSA European Reference Centre, Paris, France; INSERM, U 970, Paris Centre de Recherche Cardiovasculaire-PARCC, Paris, France.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2022 Sep; Vol. 65 (9), pp. 104557. Date of Electronic Publication: 2022 Jun 30.

A dominant-negative GFI1B mutation in the gray platelet syndrome.

Autor: Monteferrario D; From the Department of Laboratory Medicine, Laboratory of Hematology, Radboud University Medical Center, Nijmegen Center for Molecular Life Sciences (D.M., A.E.M., S.M.B., H.V., G.H., F.P., W.V.H., J.H.J., B.A.V.R.) and the Departments of Pathology (K.M.H., B.W.), Hematology (B.A.P.L.G., M.A.M., G.H.), Cardiology (A.L.D.), and Human Genetics (S.S., M.J.E.K.), Radboud University Medical Center - all in Nijmegen, the Netherlands; the Department of Medical Genetics, Antwerp University Hospital and University of Antwerp (N.A.B., E.F., G.V.C., B.L.L., L.V.L.) and the Statua Center for Statistics, University of Antwerp (E.F.), Antwerp, Belgium; and the Department of Hematology, University Hospital, Essen, Germany (C.K., L.B.)., Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, Laros-van Gorkom BA, MacKenzie MA, Khandanpour C, Botezatu L, Fransen E, Van Camp G, Duijnhouwer AL, Salemink S, Willemsen B, Huls G, Preijers F, Van Heerde W, Jansen JH, Kempers MJ, Loeys BL, Van Laer L, Van der Reijden BA

Publikováno v: The New England journal of medicine [N Engl J Med] 2014 Jan 16; Vol. 370 (3), pp. 245-53. Date of Electronic Publication: 2013 Dec 10.

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.

Autor: Kempers MJ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., van der Crabben SN, de Vroede M, Alfen-van der Velden J, Netea-Maier RT, Duim RA, Otten BJ, Losekoot M, Wit JM

Publikováno v: Hormone research in paediatrics [Horm Res Paediatr] 2013; Vol. 80 (6), pp. 390-6. Date of Electronic Publication: 2013 Nov 23.