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: Holt GS; 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., Alobaidi BKS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Smith HE; 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., Ramos L; Department of Obstetrics and Gynecology, Division of Reproductive Medicine, Radboudumc, Nijmegen, The Netherlands., Xavier MJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

المصدر: Human mutation [Hum Mutat] 2022 Nov; Vol. 43 (11), pp. 1545-1556. Date of Electronic Publication: 2022 Sep 14.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing*/methods, Female ; Humans ; Male ; Mutation ; Sequence Analysis, DNA/methods ; Polymorphism, Single Nucleotide

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: Oud MS; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Houston BJ; School of Biological Sciences, Monash University, Monash, Australia.; School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, Australia., Volozonoka L; Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia.; 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., Alobaidi BKS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., deVries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Ramos L; Department of Gynaecology and Obstetrics, Radboud University Medical Center, Nijmegen, The Netherlands., Mclachlan RI; Hudson Institute of Medical Research, Monash University, Clayton, Melbourne, Australia., O'Bryan MK; School of Biological Sciences, Monash University, Monash, Australia.; School of BioSciences, Faculty of Science, The University of Melbourne, Parkville, Australia., Veltman JA; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Chemes HE; Centro de Investigaciones Endocrinológicas 'Dr. César Bergadá' CEDIE-CONICET-FEI, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina., Sheth H; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Foundation for Research in Genetics and Endocrinology, Institute of Human Genetics, Ahmedabad, India.

المصدر: Human reproduction (Oxford, England) [Hum Reprod] 2021 Aug 18; Vol. 36 (9), pp. 2597-2611.

نوع المنشور: Journal Article; 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: Exome* , Infertility, Male*/genetics, Australia ; Humans ; Male ; Sperm Motility/genetics ; Sperm Tail ; Spermatozoa ; Exome Sequencing