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Tytuł:
Veterinary education and experience shape beliefs about dog breeds Part 1: Pain sensitivity.
Autorzy:
Caddiell RMP; Comparative Behavioral Research, Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.; Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.; Translational Research in Pain, Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.
White P; Department of Statistics, College of Physical and Mathematical Sciences, Brigham Young University, Provo, UT, USA.
Lascelles BDX; Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.; Translational Research in Pain, Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.; Comparative Pain Research and Education Center, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.; Thurston Arthritis Centre, UNC School of Medicine, Chapel Hill, NC, USA.; Department of Anesthesiology, Center for Translational Pain Research, Duke University, Durham, NC, USA.
Royal K; Comparative Behavioral Research, Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA.
Ange-van Heugten K; Department of Animal Science, College of Agriculture and Life Sciences, North Carolina State University, Raleigh, NC, USA.; Environmental Medicine Consortium, North Carolina State University, Raleigh, NC, USA.
Gruen ME; Comparative Behavioral Research, Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA. .; Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA. .; Comparative Pain Research and Education Center, College of Veterinary Medicine, North Carolina State University, Raleigh, NC, USA. .
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Źródło:
Scientific reports [Sci Rep] 2023 Aug 24; Vol. 13 (1), pp. 13846. Date of Electronic Publication: 2023 Aug 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Pain*/veterinary
Dog Diseases*/diagnosis
Education, Veterinary*
Pedigree*
Animals ; Dogs ; Veterinarians ; Surveys and Questionnaires ; Culture ; Pain Measurement/veterinary
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
On the genes, genealogies, and geographies of Quebec.
Autorzy:
Anderson-Trocmé L; Department of Human Genetics, McGill University, Montreal, QC, Canada.; McGill University Genome Centre, Montreal, QC, Canada.
Nelson D; Department of Human Genetics, McGill University, Montreal, QC, Canada.; McGill University Genome Centre, Montreal, QC, Canada.
Zabad S; School of Computer Science, McGill University, Montreal, QC, Canada.
Diaz-Papkovich A; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Quantitative Life Sciences, McGill University, Montreal, QC, Canada.
Kryukov I; Department of Human Genetics, McGill University, Montreal, QC, Canada.; McGill University Genome Centre, Montreal, QC, Canada.
Baya N; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
Touvier M; Sorbonne Paris Nord University, INSERM U1153, INRAE U1125, CNAM, Nutritional Epidemiology Research Team (EREN), Epidemiology and Statistics Research Center, University Paris Cité (CRESS), Bobigny, France.
Jeffery B; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
Dina C; Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.
Vézina H; BALSAC Project, Université du Québec á Chicoutimi, Chicoutimi, QC, Canada.
Kelleher J; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
Gravel S; Department of Human Genetics, McGill University, Montreal, QC, Canada.; McGill University Genome Centre, Montreal, QC, Canada.
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Źródło:
Science (New York, N.Y.) [Science] 2023 May 26; Vol. 380 (6647), pp. 849-855. Date of Electronic Publication: 2023 May 25.
Typ publikacji:
Journal Article
MeSH Terms:
Pedigree*
Population*/genetics
Datasets as Topic*
Humans ; Alleles ; Canada ; Genetics, Population ; Genotype ; Quebec ; France/ethnology ; Whole Genome Sequencing ; Models, Genetic ; Human Migration ; Genetic Variation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.
Autorzy:
Emperador S; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Habbane M; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Laboratoire Biologie Et Santé, Faculté Des Sciences Ben M'Sick, Hassan II University of Casablanca, 20670, Casablanca, Morocco.
López-Gallardo E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Del Rio A; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.
Llobet L; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Certest Biotec, 50840-San Mateo de Gállego, Zaragoza, Spain.
Mateo J; Servicio de Oftalmología, Hospital Clínico Universitario Lozano Blesa, 50009, Zaragoza, Spain.
Sanz-López AM; Servicio de Oftalmología, Hospital Universitario de Toledo, 45004, Toledo, Spain.
Fernández-García MJ; Servicio de Oftalmología, Hospital Universitario de Toledo, 45004, Toledo, Spain.
Sánchez-Tocino H; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.
Benbunan-Ferreiro S; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.
Calabuig-Goena M; Servicio de Oftalmología. Hospital Universitario Río Hortega, 47012, Valladolid, Spain.
Narvaez-Palazón C; Instituto Oftalmológico Recoletas, 47004, Valladolid, Spain.
Fernández-Vega B; Instituto Oftalmológico Fernández-Vega, 33012-Oviedo, Asturias, Spain.
González-Iglesias H; Instituto de Productos Lácteos de Asturias, Consejo Superior de Investigaciones Científicas (IPLA-CSIC), 33300-Villaviciosa, Asturias, Spain.
Urreizti R; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Departament de Bioquímica Clínica, Institut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.
Artuch R; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Departament de Bioquímica Clínica, Institut de Recerca Sant Joan de Déu, 08950, Barcelona, Spain.
Pacheu-Grau D; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.
Bayona-Bafaluy P; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain.; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Instituto de Biocomputación y Física de Sistemas Complejos (BIFI), Universidad de Zaragoza, 50018, Zaragoza, Spain.
Montoya J; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain. .; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain. .; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. .
Ruiz-Pesini E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50009- and 50013, Zaragoza, Spain. .; Instituto de Investigación Sanitaria (IIS) de Aragón, 50009, Zaragoza, Spain. .; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 06; Vol. 19 (1), pp. 148. Date of Electronic Publication: 2024 Apr 06.
Typ publikacji:
Journal Article
MeSH Terms:
DNA, Mitochondrial*/genetics
Optic Atrophy, Hereditary, Leber*/genetics
Humans ; Pedigree ; Mutation/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Autorzy:
Watanabe K; Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Japan.
Nishio SY; Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Usami SI; Department of Hearing Implant Sciences, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan. .
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Corporate Authors:
Deafness Gene Study Consortium
Źródło:
Scientific reports [Sci Rep] 2024 Apr 09; Vol. 14 (1), pp. 8326. Date of Electronic Publication: 2024 Apr 09.
Typ publikacji:
Journal Article
MeSH Terms:
Usher Syndromes*/epidemiology
Usher Syndromes*/genetics
Hearing Loss, Sensorineural*
Humans ; Child, Preschool ; Child ; Adolescent ; Prevalence ; Myosins/genetics ; Myosin VIIa/genetics ; Mutation ; Pedigree
SCR Disease Name:
Deafness, Autosomal Dominant 11; Usher Syndrome, Type Ib; Deafness, Autosomal Recessive 2
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Autorzy:
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.
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Źródło:
Biomolecules [Biomolecules] 2024 Mar 19; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:
Journal Article
MeSH Terms:
Macular Degeneration*/genetics
Humans ; Mutation ; Penetrance ; Pedigree ; Retina ; Phenotype ; ATP-Binding Cassette Transporters/genetics ; Eye Proteins ; Cadherin Related Proteins ; Nerve Tissue Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31.
Autorzy:
Grainok J; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.; Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Pitout IL; Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
Chen FK; Centre for Ophthalmology and Visual Science, University of Western Australia, Nedlands, WA 6009, Australia.; Lions Eye Institute, Nedlands, WA 6009, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, WA 6000, Australia.; Department of Surgery, University of Melbourne, East Melbourne, VIC 3002, Australia.
McLenachan S; Centre for Ophthalmology and Visual Science, University of Western Australia, Nedlands, WA 6009, Australia.; Lions Eye Institute, Nedlands, WA 6009, Australia.
Heath Jeffery RC; Centre for Ophthalmology and Visual Science, University of Western Australia, Nedlands, WA 6009, Australia.; Lions Eye Institute, Nedlands, WA 6009, Australia.
Mitrpant C; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Fletcher S; Health Futures Institute, Murdoch University, Murdoch, WA 6150, Australia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 16; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 16.
Typ publikacji:
Journal Article
MeSH Terms:
RNA Precursors*/genetics
Oligonucleotides, Antisense*/genetics
Oligonucleotides, Antisense*/therapeutic use
Retinitis Pigmentosa*
Humans ; Open Reading Frames ; Mutation ; Codon, Nonsense ; Eye Proteins/genetics ; Eye Proteins/metabolism ; Pedigree
SCR Disease Name:
Retinitis Pigmentosa 11
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Autorzy:
Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Delmonte OM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Bosticardo M; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Conrey PE; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Charmeteau-De Muylder B; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Bravetti C; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.; Sorbonne University, Paris Cancer Institute CURAMUS, INSERM U1138, Paris, France.
Bellworthy R; Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.
Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Staels F; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Ganoza CA; Centogene GmbH, Rostock, Germany.
Darko S; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Sayed S; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Le Floc'h C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Guenoun A; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Bolze A; Helix, San Mateo, CA, USA.
Khan T; Department of Human Immunology, Sidra Medicine, Doha, Qatar.; The Jackson Laboratory, Farmington, CT, USA.
Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Krüger R; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Völler M; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Palterer B; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Sadeghi-Shabestari M; Immunology Research Center, TB and Lung Disease Research Center, Mardaniazar Children Hospital, Tabriz University of Medical Science, Tabriz, Iran.
Langlois de Septenville A; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.
Schramm CA; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Shah S; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Tello-Cajiao JJ; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pala F; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Amini K; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Campos JS; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Lima NS; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Eriksson D; Department of Immunology, Genetics and Pathology, Uppsala University and University Hospital, Section of Clinical Genetics, Uppsala, Sweden.
Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Jyonouchi S; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ata M; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Al Ali F; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Stittrich A; Labor Berlin Charité-Vivantes GmbH, Department of Human Genetics, Berlin, Germany.
Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Pereira A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Mégret J; Cytometry Core Facility, SFR Necker, INSERM US24-CNRS UAR3633, Paris, France.
Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
Berteloot L; Department of Pediatric Radiology, University Hospital Necker-Enfants Malades, AP-HP, Paris, France.
Dussiot M; Imagine Institute, University of Paris-Cité, Paris, France.; Laboratory of Molecular Mechanisms of Hematological Disorders and Therapeutic Implications, INSERM UMR 1163, Paris, France.
Vladikine N; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Cardenas PP; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hasan A; Department of Translational Research, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Thanaraj TA; Department of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Al Qureshah F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Sabato V; Department of Immunology, Allergology and Rheumatology, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
Alyanakian MA; Immunology Laboratory, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Leruez-Ville M; Necker Hospital for Sick Children, AP-HP, Paris, France.
Rozenberg F; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.; Virology, Cochin Hospital, AP-HP, APHP-CUP, Paris, France.
Haddad E; Department of Pediatrics, Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, CHU Sainte-Justine, Montreal, QC, Canada.
Regueiro JR; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
Toribio ML; Immune System Development and Function Unit, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain.
Kelsen JR; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Salehi M; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
Nasiri S; Department of Pediatric Neurology, Children's Medical Center of Abuzar, Jundishapur University of Medical Sciences, Ahvaz, Iran.
Torabizadeh M; Golestan Hospital Clinical Research Development Unit, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Rokni-Zadeh H; Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
Vatandoost N; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Moravej H; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Akrami SM; Medical Genetics Poursina St., Genetic Department, Medical Faculty, Tehran University of Medical Sciences, Tehran, Iran.; Dr. Shahrooei Laboratory, Tehran, Iran.
Mazloomrezaei M; Dr. Shahrooei Laboratory, Tehran, Iran.
Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Meyts I; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Toyofuku E; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Nishimura M; Department of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.
Moriya K; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Mizukami T; Department of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.
Imai K; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Malissen B; Immunology Center of Marseille-Luminy, Aix Marseille University, Inserm, CNRS, Marseille, France.; Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.
Al-Mulla F; Department of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
von Bernuth H; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Berlin, Germany.; Labor Berlin GmbH, Department of Immunology, Berlin, Germany.
Beetz C; Centogene GmbH, Rostock, Germany.
Davi F; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.; Sorbonne University, Paris Cancer Institute CURAMUS, INSERM U1138, Paris, France.
Douek DC; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Cheynier R; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Langlais D; Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.
Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.
Marr N; Department of Human Immunology, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Morio T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Shahrooei M; Dr. Shahrooei Laboratory, Tehran, Iran.; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium.
Schrijvers R; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Henrickson SE; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Institute for Immunology and Immune Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Microbiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Luche H; Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.
Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2024 Mar; Vol. 383 (6686), pp. eadh4059. Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Autoimmunity*/genetics
Intraepithelial Lymphocytes*/immunology
Receptors, Antigen, T-Cell, alpha-beta*/genetics
Membrane Glycoproteins*/genetics
Humans ; Cell Differentiation ; Homozygote ; Loss of Function Mutation ; Lymphocyte Count ; Alleles ; Infections/immunology ; Lymphoproliferative Disorders/immunology ; Pedigree ; Male ; Female ; Middle Aged ; Aged ; Aged, 80 and over
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
Autorzy:
Ma X; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Zhao L; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Li L; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Li X; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
Ding C; Yunnan Institute of Pediatrics, Kunming Children's Hospital, Kunming, Yunnan, China.
Ma J; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2296. Date of Electronic Publication: 2024 Feb 28.
Typ publikacji:
Journal Article
MeSH Terms:
Frameshift Mutation*
Waardenburg Syndrome*/genetics
Waardenburg Syndrome*/pathology
Humans ; Female ; China ; Pedigree ; DNA ; SOXE Transcription Factors/genetics
SCR Disease Name:
Waardenburg syndrome type 2
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
Autorzy:
Xuan X; Department of Neurology, Hangzhou Ninth People's Hospital, Hangzhou, China.
Ruan J; Zhejiang Provincial Key Laboratory for Drug Evaluation and Clinical Research, Department of Clinical Pharmacy, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Wu C; Department of Neurology, Hangzhou Ninth People's Hospital, Hangzhou, China.
Gao Y; Ningbo Medical Center Lihuili Hospital, Ningbo, China.
Li L; Department of Neurology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Lei X; First Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming, China.
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Źródło:
CNS neuroscience & therapeutics [CNS Neurosci Ther] 2024 Mar; Vol. 30 (3), pp. e14425. Date of Electronic Publication: 2023 Nov 06.
Typ publikacji:
Case Reports; Systematic Review; Journal Article
MeSH Terms:
Peripheral Nervous System Diseases*
Movement Disorders*
Mitochondrial Diseases*
Electron Transport Complex III/*deficiency
Male ; Humans ; Electron Transport Complex III/genetics ; Membrane Proteins/metabolism ; Mutation/genetics ; Pedigree
SCR Disease Name:
Mitochondrial Complex III Deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.
Autorzy:
Lei P; Department of Otolaryngology Head & Neck Surgery, The Second Hospital of Hebei Medical University, Heping West Road No. 215, Shijiazhuang, 050000, Hebei, China.; Department of Otolaryngology Head & Neck Surgery, The Third Hospital of Shijiazhuang, Tiyu South Street No.15, Shijiazhuang, 050011, Hebei, China.
Zhu Q; Department of Otolaryngology Head & Neck Surgery, The Second Hospital of Hebei Medical University, Heping West Road No. 215, Shijiazhuang, 050000, Hebei, China. .
Dong W; Department of Otolaryngology Head & Neck Surgery, The Third Hospital of Shijiazhuang, Tiyu South Street No.15, Shijiazhuang, 050011, Hebei, China.
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Źródło:
Scientific reports [Sci Rep] 2024 Feb 27; Vol. 14 (1), pp. 4734. Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Journal Article
MeSH Terms:
Deafness*/genetics
Hearing Loss, Sensorineural*/genetics
Hearing Loss*/genetics
Humans ; Amino Acid Sequence ; Mutation ; Pedigree ; GTPase-Activating Proteins/genetics
SCR Disease Name:
Nonsyndromic Deafness; Nonsyndromic sensorineural hearing loss
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Autorzy:
Kumar A; Department of Ophthalmology, University of California San Francisco, San Francisco, California, United States of America.
Han Y; Department of Ophthalmology, University of California San Francisco, San Francisco, California, United States of America.
Oatts JT; Department of Ophthalmology, University of California San Francisco, San Francisco, California, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Feb 22; Vol. 19 (2), pp. e0298883. Date of Electronic Publication: 2024 Feb 22 (Print Publication: 2024).
Typ publikacji:
Journal Article; Systematic Review
MeSH Terms:
Glaucoma*/epidemiology
Glaucoma, Open-Angle*/genetics
Adolescent ; Child ; Female ; Humans ; Infant ; Male ; Genotype ; Mutation ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
Autorzy:
Zeng L; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.
Zhu H; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China.
Wang J; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.
Wang Q; Department of Radiology, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.
Pang Y; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China.
Luo Z; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China.
Chen A; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China.
Qin S; Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.
Zhu S; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290, Sha Yan West 2Nd Road, Chengdu, 610031, Sichuan, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Feb 19; Vol. 17 (1), pp. 54. Date of Electronic Publication: 2024 Feb 19.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Gene Duplication*
Mental Retardation, X-Linked*/genetics
Child ; Female ; Humans ; Infant, Newborn ; Male ; China ; Pedigree ; Methyl-CpG-Binding Protein 2/genetics
SCR Disease Name:
Lubs X-linked mental retardation syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study.
Autorzy:
Chen M; Department of Genomic Medicine, Changhua Christian Hospital, Changhua 500, Taiwan.; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua 500, Taiwan.; Department of Medical Genetics National Taiwan University Hospital, Taipei 100, Taiwan.; Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei 100, Taiwan.
Shen MC; Department of Laboratory Medicine, National Taiwan University Hospital, Taipei 100, Taiwan.; Department of Internal Medicine, National Taiwan University Hospital, Taipei 100, Taiwan.; Hemophilia Treatment and Thrombosis Center, Department of Internal Medicine, Changhua Christian Hospital, Changhua 500, Taiwan.
Chang SP; Department of Genomic Medicine, Changhua Christian Hospital, Changhua 500, Taiwan.
Ma GC; Department of Genomic Medicine, Changhua Christian Hospital, Changhua 500, Taiwan.
Lee DJ; Department of Genomic Medicine, Changhua Christian Hospital, Changhua 500, Taiwan.
Yan A; Department of Genomic Medicine, Changhua Christian Hospital, Changhua 500, Taiwan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 01; Vol. 25 (3). Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Hemophilia A*/genetics
Hemophilia A*/pathology
Male ; Humans ; Pedigree ; Semen ; Mutation ; Chromosome Inversion ; Factor VIII/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
Autorzy:
Jiang K; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
Wang S; Department of Ophthalmology, Gaomi People's Hospital, Weifang, China.
Sun H; Department of Ophthalmology, Weifang Medical University, Weifang, China.
Peng C; Department of Ophthalmology, Weifang Medical University, Weifang, China.
Li N; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
Li S; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
Gao R; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
Zhang J; Department of Ophthalmology, Zhengda Guangming Ophthalmology Group, Weifang Eye Hospital, Weifang, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2345. Date of Electronic Publication: 2023 Dec 26.
Typ publikacji:
Journal Article
MeSH Terms:
Retinal Degeneration*/genetics
Nervous System Diseases*
Spasms, Infantile*
Genetic Diseases, X-Linked*
Infant ; Humans ; Male ; Child, Preschool ; Pedigree ; Blindness/genetics ; Blindness/diagnosis ; Mutation ; Eye Proteins/genetics ; Nerve Tissue Proteins/genetics
SCR Disease Name:
Norrie disease
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Estimation of microsatellite-based autozygosity and its correlation with pedigree inbreeding coefficient in crossbred cattle.
Autorzy:
Elavarasan K; Animal Genetics Division, ICAR-Indian Veterinary Research Institute, Izatnagar, India.
Kumar S; Animal Genetics Division, ICAR-Indian Veterinary Research Institute, Izatnagar, India.
Agarwal S; Animal Genetics Division, ICAR-Indian Veterinary Research Institute, Izatnagar, India.
Vani A; Animal Genetics Division, ICAR-Indian Veterinary Research Institute, Izatnagar, India.
Sharma R; National Bureau of Animal Genetic Resources, Karnal, India.
Kumar S; Avian Genetics, ICAR - Central Avian Research Institute, Izatnagar, India.
Chauhan A; Division of Livestock Production and Management, ICAR-Indian Veterinary Research Institute, Izatnagar, India.
Sahoo NR; ICAR-International Centre for Foot and Mouth Disease (DFMD), Bhubaneswar, India.
Verma MR; Division of Livestock Economics, Statistics and Information Technology, ICAR-Indian Veterinary Research Institute, Izatnagar, India.
Gaur GK; Division of Livestock Production and Management, ICAR-Indian Veterinary Research Institute, Izatnagar, India.
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Źródło:
Animal biotechnology [Anim Biotechnol] 2023 Dec; Vol. 34 (8), pp. 3564-3577. Date of Electronic Publication: 2023 Feb 22.
Typ publikacji:
Journal Article
MeSH Terms:
Inbreeding*
Polymorphism, Single Nucleotide*
Cattle/genetics ; Animals ; Pedigree ; Microsatellite Repeats/genetics ; Reproduction
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
Autorzy:
Zhang Q; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yang Q; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Luo J; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Zhou X; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Yi S; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Tan S; Maternal and Child Health Hospital of Guangxi, Nanning, China.; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Qin Z; Maternal and Child Health Hospital of Guangxi, Nanning, China. .; Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .; Guangxi Key Laboratory of reproductive health and birth defect prevention, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 31; Vol. 17 (1), pp. 44. Date of Electronic Publication: 2024 Jan 31.
Typ publikacji:
Journal Article
MeSH Terms:
Siblings*
Guanine Nucleotide Exchange Factors*/genetics
Amyotrophic Lateral Sclerosis*
Spastic Paraplegia, Hereditary*
Female ; Pregnancy ; Humans ; Mutation ; DNA Mutational Analysis ; Molecular Biology ; China ; Pedigree
SCR Disease Name:
Hereditary spastic paralysis, infantile onset ascending; Amyotrophic Lateral Sclerosis 2, Juvenile
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.
Autorzy:
Su Y; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.; The First Clinical College of Wuhan University, Wuhan, China.
Zhang J; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Gao J; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Ding G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Jiang H; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Liu Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Li Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China. .; School of Basic Medicine, Hubei University of Arts and Science, Xiangyang, 441053, China. .
Yang G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China. .; Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan, 430071, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2024 Jan 26; Vol. 17 (1), pp. 36. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Frameshift Mutation*
Nystagmus, Congenital*/genetics
Humans ; Base Sequence ; Membrane Proteins/genetics ; Cytoskeletal Proteins/genetics ; Pedigree ; DNA Mutational Analysis ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort.
Autorzy:
Sather R 3rd; Department of Ophthalmology and Visual Neurosciences, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
Ihinger J; Department of Ophthalmology and Visual Neurosciences, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
Simmons M; Department of Ophthalmology and Visual Neurosciences, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
Lobo GP; Department of Ophthalmology and Visual Neurosciences, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
Montezuma SR; Department of Ophthalmology and Visual Neurosciences, University of Minnesota Medical School, Minneapolis, MN 55455, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 19; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 19.
Typ publikacji:
Journal Article
MeSH Terms:
Leber Congenital Amaurosis*/genetics
Leber Congenital Amaurosis*/therapy
Humans ; Retrospective Studies ; Mutation ; Retina/pathology ; Genetic Therapy ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Autorzy:
Jiang Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Xiao X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Sun W; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Wang Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Li S; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Jia X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Wang P; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China.
Hejtmancik JF; Ophthalmic Molecular Genetics Section, Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Rockville, MD, 20852, USA.
Zhang Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, 54 Xianlie Road, Guangzhou, 510060, China. .
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Źródło:
Journal of translational medicine [J Transl Med] 2024 Jan 19; Vol. 22 (1), pp. 75. Date of Electronic Publication: 2024 Jan 19.
Typ publikacji:
Journal Article
MeSH Terms:
Amblyopia*/complications
Myopia*/genetics
Arthritis*
Connective Tissue Diseases*
Hearing Loss, Sensorineural*
Retinal Detachment*
Humans ; Child ; Infant ; Child, Preschool ; Mutation ; Pedigree ; Fluoresceins ; Risk Factors ; DNA Mutational Analysis ; Frizzled Receptors/genetics ; Cytoskeletal Proteins/genetics ; Membrane Proteins/genetics ; Tetraspanins/genetics
SCR Disease Name:
Stickler syndrome, type 1
Czasopismo naukowe
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Tytuł:
Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
Autorzy:
Goyal S; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Singh R; Dr. Daljit, Singh Eye Hospital, Amritsar, 143001, Punjab, India.
Singh JR; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India.
Vanita V; Department of Human Genetics, Guru Nanak Dev University (GNDU), Amritsar, 143005, Punjab, India. vanita_.
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Źródło:
BMC genomics [BMC Genomics] 2024 Jan 04; Vol. 25 (1), pp. 31. Date of Electronic Publication: 2024 Jan 04.
Typ publikacji:
Journal Article
MeSH Terms:
Cataract*/genetics
Connexins*/genetics
Eye Proteins*/genetics
Membrane Proteins*/genetics
Humans ; DNA Mutational Analysis ; Mutation ; Pedigree ; Phenotype
SCR Disease Name:
Cataract, Coppock-Like
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 19254

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