Technische Entwicklungen in der 'Hör-Genetik' – Genchips und andere Trends

Autor: Bolz, HJ

Publikováno v: 29. Wissenschaftliche Jahrestagung der Deutschen Gesellschaft für Phoniatrie und Pädaudiologie (DGPP); 20120921-20120923; Bonn; DOC12dgppHV3 /20120906/

Beginn einer neuen Ära: Umfassende genetische Abklärung angeborener Hörstörungen durch die diagnostische Anwendung neuer Sequenzierverfahren (next-generation sequencing) Bis heute war eine umfassende genetische Abklärung angeborener Hörstörung

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245cfefcbd4d559fd3e2e219f32e4ab9

Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome.

Autor: Ebermann I, Elsayed SM, Abdel-Ghaffar TY, Nürnberg G, Nürnberg P, Elsobky E, Bolz HJ

Publikováno v: Neurology; 6/10/2008 Part 1 of 2, Vol. 70 Issue 24, p2343-2344, 2p

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.

Autor: Priglinger CS; Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany., Gerhardt MJ; Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany., Priglinger SG; Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany., Schaumberger M; Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany., Neuhann TM; MGZ-Medizinisch Genetisches Zentrum München, 80335 Munich, Germany., Bolz HJ; Bioscientia Human Genetics, Institute for Medical Diagnostics GmbH, 55218 Ingelheim, Germany., Mehraein Y; Institute of Human Genetics, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany.; Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany., Rudolph G; Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, 80336 Munich, Germany.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Nov 14; Vol. 25 (22). Date of Electronic Publication: 2024 Nov 14.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Autor: Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Panneman DM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France., Stöhr H; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel., Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel., Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy., Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy., Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel., Glavač D; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Center for Human Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia., Farrar GJ; The School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland., Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland., Matynia A; College of Optometry, University of Houston, Houston, TX 77004, USA.; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.; Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095, USA., Gorin MB; Jules Stein Eye Institute, Los Angeles, CA 90095, USA., Kämpjärvi K; Blueprint Genetics, 02150 Espoo, Finland., Bauwens M; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., De Baere E; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Li CHZ; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK., Fujinami K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Department of Pathology & Cell Biology, Columbia University, New York, NY 10027, USA., Zernant J; Department of Ophthalmology, Columbia University, New York, NY 10027, USA., Lee W; Department of Ophthalmology, Columbia University, New York, NY 10027, USA., Podhajcer OL; Laboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina., Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Sajovic J; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine., Valeina S; Department of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.; Children's Clinical University Hospital, LV-1004 Riga, Latvia., Taurina G; Children's Clinical University Hospital, LV-1004 Riga, Latvia., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland 1142, New Zealand., Roberts L; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Ramesar R; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Sartor G; Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy., Luppi E; Department of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.; Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford OX3 9DU, UK., van den Born LI; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands., McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia., Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Tracewska AM; Datana Solutions, 54-530 Wroclaw, Poland., Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece., Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, SP, Brazil., Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany., Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey., Roosing S; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

Publikováno v: Biomolecules [Biomolecules] 2024 Mar 19; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 19.

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.

Autor: Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hellmuth S; Chair of Genetics, University of Bayreuth, Bayreuth, Germany., Gradhand E; Senckenberg Institute of Pathology, University Hospital Frankfurt, Frankfurt, Germany., Käseberg S; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany., Winter J; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany., Pabst AS; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Thiele H; Cologne Center for Genomics and., Nürnberg P; Cologne Center for Genomics and.; Center for Molecular Medicine Cologne, University Hospital of Cologne, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Budde BS; Cologne Center for Genomics and., Toliat MR; Cologne Center for Genomics and., Brecht IB; Paediatric Haematology/Oncology, Department of Paediatrics, University Hospital Tübingen, Tübingen, Germany., Schroeder C; Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany., Gschwind A; Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany., Ossowski S; Institute of Medical Genetics and Applied Genomics, Eberhard-Karls University, Tübingen, Germany., Häuser F; Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany., Rossmann H; Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany., Abdel-Hamid MS; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hegazy I; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Mohamed AG; Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt., Schneider DT; Clinic of Pediatrics, University Witten/Herdecke, Dortmund, Germany., Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany., Bauer P; CENTOGENE GmbH, Rostock, Germany., Pearring JN; Department of Ophthalmology and Visual Sciences and.; Department of Cell and Developmental Biology, University of Michigan School of Medicine, Ann Arbor, Michigan, USA., Pfundt R; Department of Human Genetics and Radboud Institute for Molecular Life Sciences and., Hoischen A; Department of Human Genetics and Radboud Institute for Molecular Life Sciences and.; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Gilissen C; Department of Human Genetics and Radboud Institute for Molecular Life Sciences and., Strand D; Department of Internal Medicine I, University Medical Center Mainz, Mainz, Germany., Zechner U; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany., Tashkandi SA; Cytogenetics Laboratory, Pathology and Clinical Laboratory Medicine Administration (PCLMA), King Fahad Medical City, Second Central Healthcare Cluster (C2), Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Stemmann O; Chair of Genetics, University of Bayreuth, Bayreuth, Germany., Strand S; Department of Internal Medicine I, University Medical Center Mainz, Mainz, Germany., Bolz HJ; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany.; Institute of Human Genetics, University Hospital of Cologne, University of Cologne, Cologne, Germany.

Publikováno v: JCI insight [JCI Insight] 2023 Nov 22; Vol. 8 (22). Date of Electronic Publication: 2023 Nov 22.