Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

Autor: Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Burgemeister AL; Genetikum, Genetic Counseling and Diagnostics, 70173 Stuttgart, Germany., Cantagrel V; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France., Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Université Paris Cité, Imagine Institute, 75015 Paris, France., Siquier-Pernet K; Developmental Brain Disorders Laboratory, Université Paris Cité, Imagine Institute, INSERM UMR, 75015 Paris, France., Boddaert N; Département de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Necker Enfants Malades Hospital, 75015 Paris, France., Hertecant J; Division of Genetics and Metabolics, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates., Kannouche PL; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France., Pouvelle C; CNRS UMR 9019, Université Paris-Saclay, Equipe labellisée Ligue contre le Cancer, Gustave Roussy, 94805 Villejuif, France., Htun S; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Slavotinek AM; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143, USA., Beetz C; Centogene GmbH, 18055 Rostock, Germany., Diego-Alvarez D; Centogene GmbH, 18055 Rostock, Germany., Kampe K; Centogene GmbH, 18055 Rostock, Germany., Fleischer N; FDNA Inc., Boston, MA 02111, USA., Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada., Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.; Department of Molecular Genetics, Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A1, Canada., Kopajtich R; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Suleiman J; Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Pediatrics Department, University Hospital Sharjah, Sharjah, United Arab Emirates.; Genetics and Metabolic Department, KidsHeart Medical Center, Abu Dhabi, United Arab Emirates.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2022 Sep 10; Vol. 31 (18), pp. 3083-3094.

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.

Autor: Burgemeister AL; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany. Electronic address: burgemeister@genetikum.de., Daumiller E; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., du Bois G; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Graul-Neumann LM; Institute of Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany., Köhler B; Klinik für Pädiatrie m.S. Endokrinologie und Diabetologie, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Knecht S; Kinderklinik, Sozialpädiatrisches Zentrum, Alb Fils Kliniken, Göppingen, Germany., Burgemeister S; Dental Center, Baden, Switzerland., Gronwald S; Dental Practice in the Dental-Medical Training Center, Stuttgart, Germany., Maurer MH; Department of Radiology, Inselspital, Bern University Hospital, University of Bern, Switzerland., Zirn B; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2019 Mar; Vol. 62 (3), pp. 210-216. Date of Electronic Publication: 2018 Jul 18.

Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.

Autor: Burgemeister AL; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Daumiller E; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Dietze-Armana I; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Klett C; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Freiberg C; Department of Pediatrics and Adolescent Medicine, Pediatric Endocrinology, University Medicine, Göttingen, Germany., Stark W; Department of Pediatrics and Adolescent Medicine, Pediatric Neurology, University Medicine, Göttingen, Germany., Lingen M; Department of Pediatrics and Adolescent Medicine, Pediatric Neurology, University Medicine, Göttingen, Germany., Centonze I; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Rettenberger G; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Mehnert K; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany., Zirn B; Genetikum, Genetic Counseling and Diagnostics, Stuttgart and Neu-Ulm, Germany.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Mar; Vol. 173 (3), pp. 727-732. Date of Electronic Publication: 2017 Jan 27.

Menkes disease with discordant phenotype in female monozygotic twins.

Autor: Burgemeister AL; Genetikum, Genetic Counseling and Diagnostic, Stuttgart and Neu-Ulm, Germany., Zirn B; Genetikum, Genetic Counseling and Diagnostic, Stuttgart and Neu-Ulm, Germany.; Department of Pediatrics and Neuropediatrics, University Medicine, Göttingen, Germany., Oeffner F; Genetikum, Genetic Counseling and Diagnostic, Stuttgart and Neu-Ulm, Germany., Kaler SG; Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland., Lemm G; Department of Radiology, SLK-Klinikum, Heilbronn, Germany., Rossier E; Genetikum, Genetic Counseling and Diagnostic, Stuttgart and Neu-Ulm, Germany., Büttel HM; Department of Pediatrics and Neuropediatrics, SLK-Klinikum, Heilbronn, Germany.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Nov; Vol. 167A (11), pp. 2826-9. Date of Electronic Publication: 2015 Aug 04.

Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.

Autor: Surowy HM; Division Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany, h.surowy@dkfz-heidelberg.de., Sutter C, Mittnacht M, Klaes R, Schaefer D, Evers C, Burgemeister AL, Goehringer C, Dikow N, Heil J, Golatta M, Schott S, Schneeweiss A, Bugert P, Sohn C, Bartram CR, Burwinkel B

Publikováno v: Breast cancer research and treatment [Breast Cancer Res Treat] 2014 Jun; Vol. 145 (2), pp. 451-60. Date of Electronic Publication: 2014 Apr 12.