المؤلفون: P de Vries, E Schaafsma, L. E. L. M. Vissers, Simon Cockell, Mauro Santibanez-Koref, Christian Gilissen, Miguel J. Xavier, Sabine Kliesch, Harsh Sheth, G S Holt, Frank Tüttelmann, Gdn Astuti, Jonathan Coxhead, Moira K O'Bryan, GW van der Heijden, Corinna Friedrich, Helen Turner, Brendan J Houston, Kathrin Fleischer, Antoni Riera-Escamilla, Joris A. Veltman, Kenneth I. Aston, Aneta Mikulasova, H Ismail, David J. Elliott, L. Ramos, Kevin McEleny, HE Smith, Liina Nagirnaja, Csilla Krausz, J Greenwood, Roos M. Smits, Francesco K. Mastrorosa, Bks Alobaidi, Claudia Gonzaga-Jauregui, LE Batty, Kwm D’Hauwers, D.D.M. Braat, Donald F. Conrad, Oud

مصطلحات موضوعية: Genetics, Candidate gene, media_common.quotation_subject, Fertility, Biology, medicine.disease, Phenotype, Male infertility, medicine.anatomical_structure, Cohort, medicine, Missense mutation, Gene, Germ cell, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b25224d79980a7a76f4c1d8e08942fba
https://doi.org/10.1101/2021.02.27.433155

المؤلفون: Zeuli R; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Karali M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Rodenburg K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Scarpato M; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Capasso D; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomic and Experimental Medicine Program, Naples, Italy., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Rodríguez-Hidalgo M; Department of Neuroscience, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain; Department of Dermatology, Ophthalmology, and Otorhinolaryngology, University of the Basque Country (UPV/EHU), Donostia-San Sebastián, Spain., Ruiz-Ederra J; Department of Neuroscience, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain; Department of Dermatology, Ophthalmology, and Otorhinolaryngology, University of the Basque Country (UPV/EHU), Donostia-San Sebastián, Spain., Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Banfi S; Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address: banfi@tigem.it., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: susanne.roosing@radboudumc.nl.

المصدر: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100314. Date of Electronic Publication: 2024 May 29.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Diseases*/genetics , Retinal Diseases*/diagnosis , Whole Genome Sequencing*, Humans ; Male ; Female ; Italy ; Child ; Adult ; Adolescent ; Genetic Predisposition to Disease/genetics ; Cytoskeletal Proteins/genetics ; Child, Preschool ; Cadherins/genetics ; Mutation ; Genetic Variation/genetics ; High-Throughput Nucleotide Sequencing ; Cadherin Related Proteins ; Young Adult ; ATP-Binding Cassette Transporters/genetics ; Middle Aged ; Eye Proteins/genetics ; Antigens, Neoplasm/genetics ; Pedigree ; Cell Cycle Proteins

المؤلفون: Afanasyeva TAV; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GD Nijmegen, the Netherlands., Athanasiou D; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Perdigao PRL; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Whiting KR; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Duijkers L; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Bennett J; Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia PA 19104, USA., Garanto A; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., van der Spuy J; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Roepman R; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Cheetham ME; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK., Collin RWJ; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GD Nijmegen, the Netherlands.

المصدر: Molecular therapy. Methods & clinical development [Mol Ther Methods Clin Dev] 2023 May 17; Vol. 29, pp. 522-531. Date of Electronic Publication: 2023 May 17 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101624857 Publication Model: eCollection Cited Medium: Print ISSN: 2329-0501 (Print) Linking ISSN: 23290501 NLM ISO Abbreviation: Mol Ther Methods Clin Dev Subsets: PubMed not MEDLINE

المؤلفون: Gunadi; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia. Electronic address: drgunadi@ugm.ac.id., Kalim AS; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia., Iskandar K; Department of Child Health/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/UGM Academic Hospital, Yogyakarta, Indonesia., Marcellus; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia., Puspitarani DA; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia., Diposarosa R; Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Padjadjaran/Dr. Hasan Sadikin Hospital, Bandung, Indonesia., Makhmudi A; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands/Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University Semarang, Indonesia.

المصدر: Journal of pediatric surgery [J Pediatr Surg] 2023 Apr; Vol. 58 (4), pp. 723-728. Date of Electronic Publication: 2022 Nov 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Saunders Country of Publication: United States NLM ID: 0052631 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-5037 (Electronic) Linking ISSN: 00223468 NLM ISO Abbreviation: J Pediatr Surg Subsets: MEDLINE

مواضيع طبية MeSH: Hirschsprung Disease*/genetics, Male ; Female ; Humans ; Exome Sequencing ; Genetic Association Studies ; Indonesia

المؤلفون: Reurink J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Garanto A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Pediatrics, Amalia's Children Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Dockery A; The School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, the Netherlands., Fajardy I; Centre de Biologie Pathologie Génétique, CHU de Lille, Lille, France., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Wissinger B; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Farrar GJ; The School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland., Ben-Yosef T; The Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Pfiffner FK; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland., Berger W; Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.; Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.; Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Weener ME; CRO Oftalmic, Moscow, Russia., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Sharon D; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Salameh M; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Offenheim A; Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Heon E; Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, ON, Canada., Girotto G; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy.; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy., Gasparini P; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy.; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy., Morgan A; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy., Bergen AA; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands.; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands., Ten Brink JB; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Tranebjærg L; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, 2600 Glostrup, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark., Rendtorff ND; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, 2600 Glostrup, Denmark., Vermeer S; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Smits JJ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands.; Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands., Pennings RJE; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Aben M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Oostrik J; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Corominas Galbany J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands., Phan M; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Rijnstate Hospital, Arnhem, the Netherlands., van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Thiadens AAHJ; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands., Verheij JBGM; Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., van Schooneveld MJ; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 Amsterdam, the Netherlands., de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Li CHZ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Hoyng CB; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., van Wijk E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hearing & Genes, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

المصدر: HGG advances [HGG Adv] 2023 Jan 18; Vol. 4 (2), pp. 100181. Date of Electronic Publication: 2023 Jan 18 (Print Publication: 2023).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv

مواضيع طبية MeSH: Usher Syndromes*/diagnosis , Retinitis Pigmentosa*/diagnosis, Humans ; RNA Precursors ; Mutation ; Pedigree ; Whole Genome Sequencing ; Extracellular Matrix Proteins/genetics

SCR Disease Name: Usher syndrome, type 2A

المؤلفون: Reurink J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Vrieze E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Li CHZ; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., van Berkel E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Broekman S; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Aben M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Peters T; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Oostrik J; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Ramos MG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Galbany JC; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Lith-Verhoeven JJC; Department of Ophthalmology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Hoyng CB; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kremer H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl., van Wijk E; Donders Institute for Brain Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Erwin.vanWyk@radboudumc.nl.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands. Erwin.vanWyk@radboudumc.nl.

المصدر: NPJ genomic medicine [NPJ Genom Med] 2022 Jun 07; Vol. 7 (1), pp. 37. Date of Electronic Publication: 2022 Jun 07.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

المؤلفون: van der Spek J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., den Hoed J; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Schijven D; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, United Kingdom; Department of Engineering Science, Institute of Biomedical Engineering, University of Oxford, Oxford, United Kingdom; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, United Kingdom., Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL., Beck-Wödl S; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Brunet T; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, Maastricht University, Maastricht, The Netherlands., Campeau PM; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Čuturilo G; University Children's Hospital Belgrade, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Haack TB; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hüning I; Institute of Human Genetics, University of Lübeck, Lübeck, Germany., Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany., Kamien B; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia., Lim SC; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Lovrecic L; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Magg J; Department of Neuropaediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen, Germany., Maver A; Clinical Institute for Genomic Medicine, University Medical Center Ljubljana, Ljubljana, Slovenia., Miranda V; CHU Sainte-Justine Research Center, Montreal, Quebec, Canada; Sainte-Justine Hospital, University of Montreal, Montreal, Quebec, Canada., Monteil DC; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Pais LS; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Plaiasu V; INSMC Alessandrescu-Rusescu, Regional Center of Medical Genetics Bucharest, Bucharest, Romania., Raiti L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Richmond C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Genetic Health Queensland, Royal Brisbane and Women's hospital, Herston, Queensland, Australia; School of Medicine, Griffith University, Southport, Queensland, Australia., Rieß A; Department of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Simon MEH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Spranger S; Praxis für Humangenetik-Bremen, Bremen, Germany., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Wilkins EJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Francks C; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Fisher SE; Department of Language and Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands. Electronic address: Tjitske.Kleefstra@radboudumc.nl.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1283-1296. Date of Electronic Publication: 2022 Mar 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: DNA Helicases*/genetics , Mi-2 Nucleosome Remodeling and Deacetylase Complex*/genetics , Neurodevelopmental Disorders*/genetics, Heterozygote ; Humans ; Phenotype ; Syndrome

المؤلفون: Smits RM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, the Netherlands., Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Oud MS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, the Netherlands., Astuti GDN; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, the Netherlands., Meijerink AM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, the Netherlands., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, the Netherlands., Holt GS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Alobaidi BKS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Batty LE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Khazeeva G; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands., Sablauskas K; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands., Fleischer K; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, the Netherlands., Braat DDM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, the Netherlands., Ramos L; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, the Netherlands., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

المصدر: Human reproduction (Oxford, England) [Hum Reprod] 2022 May 30; Vol. 37 (6), pp. 1360-1369.

نوع المنشور: Journal Article; Observational Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

مواضيع طبية MeSH: Fertilization in Vitro* , Sperm Injections, Intracytoplasmic*/methods, Adult ; Child ; Female ; Fertilization ; Humans ; Male ; Mutation ; Pilot Projects

المؤلفون: Oud MS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Smits RM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., Smith HE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Mastrorosa FK; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Holt GS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Houston BJ; School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Alobaidi BKS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Batty LE; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Ismail H; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Greenwood J; Department of Genetic Medicine, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Sheth H; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India., Mikulasova A; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Astuti GDN; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands.; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Gilissen C; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., McEleny K; Newcastle Fertility Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Turner H; Department of Cellular Pathology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Coxhead J; Genomics Core Facility, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Cockell S; Bioinformatics Support Unit, Faculty of Medical Sciences New, castle University, Newcastle upon Tyne, UK., Braat DDM; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., Fleischer K; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., D'Hauwers KWM; Department of Urology, Radboudumc, Nijmegen, The Netherlands., Schaafsma E; Department of Pathology, Radboudumc, Nijmegen, The Netherlands., Nagirnaja L; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR, USA., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Beaverton, OR, USA., Friedrich C; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Kliesch S; Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University Hospital Münster, Münster, Germany., Aston KI; Department of Surgery, Division of Urology, University of Utah School of Medicine, Salt Lake City, UT, USA., Riera-Escamilla A; Andrology Department, Fundació Puigvert, Universitat Autònoma de Barcelona, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Barcelona, Catalonia, Spain., Krausz C; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', University of Florence, Florence, Italy., Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY, USA., Santibanez-Koref M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Elliott DJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., O'Bryan MK; School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, VIC, Australia., Ramos L; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., van der Heijden GW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands.; Department of Obstetrics and Gynaecology, Radboudumc, Nijmegen, The Netherlands., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. joris.veltman@newcastle.ac.uk.

مؤلفون مشاركون: Genetics of Male Infertility Initiative (GEMINI) consortium

المصدر: Nature communications [Nat Commun] 2022 Jan 10; Vol. 13 (1), pp. 154. Date of Electronic Publication: 2022 Jan 10.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Loss of Function Mutation* , Mutation, Missense*, Azoospermia/*genetics , Cell Cycle Proteins/*genetics , DNA-Binding Proteins/*genetics , Oligospermia/*genetics , RNA-Binding Proteins/*genetics , Tumor Suppressor Proteins/*genetics, Adult ; Azoospermia/pathology ; Case-Control Studies ; Cell Cycle Proteins/deficiency ; DNA-Binding Proteins/deficiency ; Exome ; Gene Expression ; Gene Expression Profiling ; Humans ; Male ; Oligospermia/pathology ; Tumor Suppressor Proteins/deficiency ; Exome Sequencing

المؤلفون: Fadaie Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Whelan L; The School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Dockery A; The School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Corominas J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia., de Rooij L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Klaver CCW; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Hoyng CB; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Wynne N; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland., Duignan ES; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland., Kenna PF; The School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin, Ireland., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Farrar GJ; The School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.

المصدر: NPJ genomic medicine [NPJ Genom Med] 2021 Nov 18; Vol. 6 (1), pp. 97. Date of Electronic Publication: 2021 Nov 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE