المؤلفون: Tolonen JP; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Parolin Schnekenberg R; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., McGowan S; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Sims D; Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., McEntagart M; South West Regional Genetics Service, St. George's University Hospitals, London, UK., Elmslie F; South West Regional Genetics Service, St. George's University Hospitals, London, UK., Shears D; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., Stewart H; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK., Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Dabir T; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK., Morrison PJ; Patrick G. Johnston Centre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, UK., Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Hadjivassiliou M; Department of Neurology, Royal Hallamshire Hospital, Sheffield Teaching Hospital NHS Foundation Trust, Sheffield, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, UK., Shaw-Smith C; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Znaczko A; Peninsula Clinical Genetics Service, Royal Devon University Hospital, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Dixit A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Suri M; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Sarkar A; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Harrison RE; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Jones G; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Ceravolo G; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, UK.; Unit of Pediatric Emergency, Department of Adult and Childhood Human Pathology, University Hospital of Messina, Messina, Italy., Jarvis J; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Williams J; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Shanks ME; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Clouston P; Oxford Regional Genetics Laboratory, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Blumkin L; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Movement Disorders Service, Pediatric Neurology Unit, Edith Wolfson Medical Center, Holon, Israel., Lerman-Sagie T; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Magen Center for Rare Diseases-Metabolic, Neurogenetic, Wolfson Medical Center, Holon, Israel., Ponger P; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Raskin S; Genetika Centro de Aconselhamento e Laboratório, Curitiba, Brazil., Granath K; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland., Uusimaa J; Research Unit of Clinical Medicine, Medical Research Center, Oulu University Hospital and University of Oulu, Oulu, Finland., Conti H; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK., McCann E; Liverpool Women's Hospital Foundation Trust, Liverpool, UK., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Blakes AJM; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Kingston H; Manchester Centre for Genomic Medicine, University of Manchester, St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Bertoli M; Northern Genetics Service, International Centre for Life, Newcastle upon Tyne, UK., Kneen R; Department of Neurology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Martínez Albaladejo I; Neurology in Pediatrics, Hospital Santa Lucía, Murcia, Spain., Moore AP; The Walton Centre NHS Foundation Trust, Liverpool, UK., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street NHS Foundation Trust, London, UK., Becker EBE; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Kavli Institute of Nanoscience Discovery, University of Oxford, Oxford, UK., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Center for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, University of Oxford, Oxford, UK.

مؤلفون مشاركون: Genomics England Research Consortium; Department of Health & Social Care, London, UK.

المصدر: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jan; Vol. 39 (1), pp. 141-151. Date of Electronic Publication: 2023 Nov 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

مواضيع طبية MeSH: Cerebellar Ataxia*/genetics , Movement Disorders*/complications , Carbonic Anhydrases*/genetics , Carbonic Anhydrases*/metabolism , Intellectual Disability* , Spinocerebellar Degenerations* , Aniridia*, Humans ; Mutation, Missense/genetics ; Atrophy ; Inositol 1,4,5-Trisphosphate Receptors/chemistry ; Inositol 1,4,5-Trisphosphate Receptors/genetics ; Inositol 1,4,5-Trisphosphate Receptors/metabolism ; Intracellular Signaling Peptides and Proteins/genetics

SCR Disease Name: Aniridia cerebellar ataxia mental deficiency; Spinocerebellar Ataxia 29

المؤلفون: Filatova AY; Research Centre for Medical Genetics, Moscow, Russian Federation., Vasilyeva TA; Research Centre for Medical Genetics, Moscow, Russian Federation., Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russian Federation., Sukhanova NV; Central Clinical Hospital of the Russian Academy of Sciences, Moscow, Russian Federation., Voskresenskaya AA; Cheboksary Branch of the S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian Federation., Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russian Federation.; N.A. Semashko National Research Institute of Public Health, Moscow, Russian Federation., Skoblov MY; Research Centre for Medical Genetics, Moscow, Russian Federation.

المصدر: Human mutation [Hum Mutat] 2021 Aug; Vol. 42 (8), pp. 1053-1065. Date of Electronic Publication: 2021 Jul 05.

نوع المنشور: Journal Article

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: Aniridia*/genetics , Aniridia*/pathology, 5' Untranslated Regions ; Frameshift Mutation ; Humans ; Inheritance Patterns ; PAX6 Transcription Factor/genetics ; RNA, Messenger/genetics

المؤلفون: Seese SE; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's of Wisconsin, Milwaukee, WI, USA.; Department of Cell Biology, Neurobiology, and Anatomy, The Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's of Wisconsin, Milwaukee, WI, USA., Deml B; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's of Wisconsin, Milwaukee, WI, USA., Griffith C; Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Reich A; GeneDx, Gaithersburg, Maryland, USA., Jamieson RV; Eye Genetics Research Unit, Sydney Children's Hospitals Network and Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's of Wisconsin, Milwaukee, WI, USA.; Department of Cell Biology, Neurobiology, and Anatomy, The Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

المصدر: Human mutation [Hum Mutat] 2021 Jul; Vol. 42 (7), pp. 877-890. Date of Electronic Publication: 2021 May 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: Aniridia*/genetics , Coloboma*/genetics , Microphthalmos*/genetics, Animals ; Eye Proteins ; Homeodomain Proteins/genetics ; Humans ; Intracellular Signaling Peptides and Proteins ; Zebrafish/genetics ; Zebrafish Proteins/genetics

المؤلفون: Zhang X; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Qin G; Department of Otolaryngology, Head and Neck Surgery, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Chen G; Institute of Cardiovascular Research, Luzhou Medical College, Luzhou, China., Li T; Institute of Cardiovascular Research, Luzhou Medical College, Luzhou, China., Gao L; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China., Huang L; Institute of Cardiovascular Research, Luzhou Medical College, Luzhou, China., Zhang Y; Functional Laboratory of Medicine, Luzhou Medical College, Luzhou, China., Ouyang K; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Wang Y; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Pang Y; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China., Zeng B; Institute of Cardiovascular Research, Luzhou Medical College, Luzhou, China., Yu L; Department of Ophthalmology, Affiliated Hospital of Luzhou Medical College, Luzhou, China.

المصدر: Human mutation [Hum Mutat] 2015 Dec; Vol. 36 (12), pp. 1164-7. Date of Electronic Publication: 2015 Oct 09.

نوع المنشور: Case Reports; 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: Gene Expression* , Genetic Association Studies* , Genetic Variation*, Aniridia/*genetics , Carrier Proteins/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, 3' Untranslated Regions ; Aniridia/diagnosis ; Carrier Proteins/chemistry ; Computational Biology/methods ; Female ; Genetic Linkage ; High-Throughput Nucleotide Sequencing ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Microsatellite Repeats ; Mutation ; PAX6 Transcription Factor ; Pedigree ; Phenotype ; Tripartite Motif Proteins

المؤلفون: Neveu MM; Institute of Ophthalmology, University College London, London, United Kingdom., von dem Hagen E, Morland AB, Jeffery G

المصدر: The Journal of comparative neurology [J Comp Neurol] 2008 Feb 10; Vol. 506 (5), pp. 791-800.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0406041 Publication Model: Print Cited Medium: Print ISSN: 0021-9967 (Print) Linking ISSN: 00219967 NLM ISO Abbreviation: J Comp Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Albinism, Ocular/*pathology , Aniridia/*pathology , Fovea Centralis/*physiology , Visual Cortex/*growth & development , Visual Pathways/*physiology, Adult ; Aged ; Albinism, Ocular/physiopathology ; Aniridia/physiopathology ; Case-Control Studies ; Female ; Fovea Centralis/pathology ; Functional Laterality/physiology ; Humans ; Male ; Middle Aged ; Organ Size ; Reference Values ; Visual Acuity/physiology ; Visual Cortex/pathology ; Visual Pathways/pathology

المؤلفون: Muto R; Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan. rmuto@ped.twmu.ac.jp, Yamamori S, Ohashi H, Osawa M

المصدر: American journal of medical genetics [Am J Med Genet] 2002 Apr 01; Vol. 108 (4), pp. 285-9.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*genetics , Wilms Tumor/*genetics, Adolescent ; Aniridia/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 10/genetics ; Chromosomes, Human, Pair 11/genetics ; Chromosomes, Human, Pair 14/genetics ; Chromosomes, Human, Pair 21/genetics ; Eye Proteins ; Female ; Homeodomain Proteins/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Repressor Proteins ; Translocation, Genetic ; WT1 Proteins/genetics ; Wilms Tumor/pathology

المؤلفون: Martha A; Department of Biochemistry and Molecular Biology, University of Texas, M.D. Anderson Cancer Center, Houston 77030, USA., Strong LC, Ferrell RE, Saunders GF

المصدر: Human mutation [Hum Mutat] 1995; Vol. 6 (1), pp. 44-9.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Homeodomain Proteins*, Aniridia/*genetics , DNA-Binding Proteins/*genetics, Adult ; Aniridia/diagnosis ; Base Sequence ; Chromosome Mapping ; DNA Mutational Analysis ; Eye Proteins ; Female ; Humans ; Molecular Sequence Data ; Nucleic Acid Heteroduplexes/genetics ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Repressor Proteins

المؤلفون: Martha AD; Department of Biochemistry and Molecular Biology, University of Texas M.D. Anderson Cancer Center, Houston 77030., Ferrell RE, Saunders GF

المصدر: Human mutation [Hum Mutat] 1994; Vol. 3 (3), pp. 297-300.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Homeobox* , Homeodomain Proteins* , Point Mutation*, Aniridia/*genetics , DNA-Binding Proteins/*genetics, Aniridia/blood ; Base Sequence ; DNA/blood ; DNA/genetics ; DNA/isolation & purification ; DNA Primers ; Exons ; Eye Proteins ; Female ; Humans ; Male ; Molecular Sequence Data ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Pedigree ; Polymerase Chain Reaction/methods ; Repressor Proteins ; Transcription Factors/genetics

المؤلفون: Chao LY; Department of Biochemistry and Molecular Biology, University of Texas M.D. Anderson Cancer Center, Houston, Texas 77030, USA., Mishra R, Strong LC, Saunders GF

المصدر: Human mutation [Hum Mutat] 2003 Feb; Vol. 21 (2), pp. 138-45.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, P.H.S.

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

مواضيع طبية MeSH: Codon, Terminator/*genetics , Homeodomain Proteins/*genetics , Mutation, Missense/*genetics, 3' Untranslated Regions/genetics ; 3T3 Cells ; Alternative Splicing/genetics ; Animals ; Aniridia/genetics ; Binding Sites/genetics ; Cell Line ; Chromosome Deletion ; Eye Proteins ; Female ; Frameshift Mutation/genetics ; Humans ; Male ; Mice ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Repressor Proteins ; WAGR Syndrome/genetics

المؤلفون: Sale MM; Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, NC, USA. msale@wfubmc.edu, Craig JE, Charlesworth JC, FitzGerald LM, Hanson IM, Dickinson JL, Matthews SJ, Heyningen Vv Vv, Fingert JH, Mackey DA

المصدر: Human mutation [Hum Mutat] 2002 Oct; Vol. 20 (4), pp. 322.

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

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

مواضيع طبية MeSH: Cytosine* , Pedigree*, Genetic Variation/*genetics , Homeodomain Proteins/*genetics , Mutation/*genetics , Sequence Deletion/*genetics, Aniridia/genetics ; DNA Mutational Analysis ; Eye Proteins/genetics ; Female ; Humans ; Male ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Phenotype ; Repressor Proteins/genetics ; Transcription Factors/genetics