المؤلفون: Vasilyeva TA; Research Centre for Medical Genetics, 115522 Moscow, Russia., Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Voskresenskaya AA; Fyodorov Eye Microsurgery Federal State Institution Cheboksary Branch, 428028 Cheboksary, Russia., Kadyshev VV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Sukhanova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Minzhenkova ME; Research Centre for Medical Genetics, 115522 Moscow, Russia., Shilova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Latyshova AA; Russian Research Institute of Health, 127254 Moscow, Russia., Ginter EK; Research Centre for Medical Genetics, 115522 Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia., Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.

المصدر: Genes [Genes (Basel)] 2023 Nov 04; Vol. 14 (11). Date of Electronic Publication: 2023 Nov 04.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/epidemiology , Aniridia*/genetics , WAGR Syndrome*/genetics, Humans ; Prevalence ; PAX6 Transcription Factor/genetics ; Chromosome Deletion

المؤلفون: Wang Q; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Zhang X; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Qin T; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Wang D; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Lin X; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Zhu Y; Aegicare, 3803 Building 11A, Shenzhen Bay Ecological Technology Park, Nanshan District, Shenzhen 518063, China., Tan H; Aegicare, 3803 Building 11A, Shenzhen Bay Ecological Technology Park, Nanshan District, Shenzhen 518063, China., Zhao L; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Li J; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Lin Z; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Lin H; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China., Chen W; State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Centre for Ocular Diseases, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou 510060, China.

المصدر: Genes [Genes (Basel)] 2022 Aug 12; Vol. 13 (8). Date of Electronic Publication: 2022 Aug 12.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Kidney Neoplasms*/genetics , WAGR Syndrome*/genetics , WAGR Syndrome*/pathology , Wilms Tumor*/genetics , Wilms Tumor*/pathology, Chromosome Deletion ; Humans ; Phenotype

المؤلفون: Ahmed MR; Medical Genetics and Ophthalmic Genomics Unit, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Otorhinolaryngology-Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Sethna S; Department of Otorhinolaryngology-Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Krueger LA; Department of Ophthalmology, Division of Pediatric Ophthalmology, Abrahamson Pediatric Eye Institute, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Yang MB; Department of Ophthalmology, Division of Pediatric Ophthalmology, Abrahamson Pediatric Eye Institute, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Hufnagel RB; Medical Genetics and Ophthalmic Genomics Unit, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

المصدر: Genes [Genes (Basel)] 2022 Feb 24; Vol. 13 (3). Date of Electronic Publication: 2022 Feb 24.

نوع المنشور: Journal Article; Meta-Analysis; Research Support, N.I.H., Intramural

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia* , Cataract* , Eye Abnormalities*/diagnosis , Eye Abnormalities*/genetics , Heart Defects, Congenital*/genetics, Forkhead Transcription Factors/genetics ; Humans

SCR Disease Name: Anterior segment mesenchymal dysgenesis

المؤلفون: Nieves-Moreno M; Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain., Noval S; Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain., Peralta J; Department of Ophthalmology, Hospital Universitario La Paz, 28046 Madrid, Spain., Palomares-Bralo M; Department of Molecular Developmental Disorders, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain., Del Pozo A; Department of Bioinformatics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain., Garcia-Miñaur S; Department of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain., Santos-Simarro F; Department of Clinical Genetics, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain., Vallespin E; Department of Molecular Ophthalmology, Medical and Molecular Genetics Institue (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, 28046 Madrid, Spain.

المصدر: Genes [Genes (Basel)] 2021 May 09; Vol. 12 (5). Date of Electronic Publication: 2021 May 09.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype*, Aniridia/*genetics , Cataract/*genetics , Corneal Dystrophies, Hereditary/*genetics , Nystagmus, Congenital/*genetics , PAX6 Transcription Factor/*genetics, Adolescent ; Adult ; Aniridia/pathology ; Cataract/pathology ; Child ; Corneal Dystrophies, Hereditary/pathology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Nystagmus, Congenital/pathology

المؤلفون: Lima Cunha D; Institute of Ophthalmology, UCL, London EC1V 9EL, UK., Arno G; Institute of Ophthalmology, UCL, London EC1V 9EL, UK.; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), 28029 Madrid, Spain., Moosajee M; Institute of Ophthalmology, UCL, London EC1V 9EL, UK.; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.

المصدر: Genes [Genes (Basel)] 2019 Dec 17; Vol. 10 (12). Date of Electronic Publication: 2019 Dec 17.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*, Aniridia/*genetics , Eye Proteins/*genetics , PAX6 Transcription Factor/*genetics, Aniridia/pathology ; Databases, Genetic ; Gene Deletion ; Haploinsufficiency ; Humans ; Mutation, Missense ; Wilms Tumor/genetics ; Wilms Tumor/pathology

المؤلفون: Balikov DA; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA., Jacobson A; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA., Prasov L; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

المصدر: Genes [Genes (Basel)] 2021 Sep 11; Vol. 12 (9). Date of Electronic Publication: 2021 Sep 11.

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

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Eye Diseases, Hereditary/*genetics , Glaucoma/*etiology , Glaucoma/*genetics, Aniridia/genetics ; Aniridia/pathology ; Collagen Diseases/complications ; Collagen Diseases/genetics ; Collagen Diseases/pathology ; Eye Abnormalities/genetics ; Eye Abnormalities/pathology ; Eye Diseases, Hereditary/pathology ; Glaucoma/pathology ; Glaucoma, Angle-Closure/complications ; Glaucoma, Angle-Closure/genetics ; Glaucoma, Angle-Closure/pathology ; Humans ; Hyperopia/complications ; Hyperopia/genetics ; Hyperopia/pathology ; Immune System Diseases/complications ; Immune System Diseases/genetics ; Immune System Diseases/pathology ; Metabolic Diseases/complications ; Metabolic Diseases/genetics ; Metabolic Diseases/pathology ; Microphthalmos/complications ; Microphthalmos/genetics ; Microphthalmos/pathology ; Syndrome ; Vascular Diseases/complications ; Vascular Diseases/genetics ; Vascular Diseases/pathology

SCR Disease Name: Anterior segment mesenchymal dysgenesis; Nanophthalmos 1

المؤلفون: Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Natella V. Sukhanova, Marina E. Minzhenkova, Nadezhda V. Shilova, Alla A. Latyshova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko

المصدر: Genes, Vol 14, Iss 11, p 2041 (2023)

مصطلحات موضوعية: congenital aniridia, PAX6, WAGR syndrome, genetic epidemiology, prevalence, unexamined patients, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/11/2041; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/0c35b5f2d16f4baf9738372f09ea8993

المؤلفون: Itsuka Matsushita, Hiroto Izumi, Shinji Ueno, Takaaki Hayashi, Kaoru Fujinami, Kazushige Tsunoda, Takeshi Iwata, Yoshiaki Kiuchi, Hiroyuki Kondo

المصدر: Genes, Vol 14, Iss 7, p 1483 (2023)

مصطلحات موضوعية: foveal hypoplasia, FVH1, aniridia, corneal opacity, PAX6, DNA binding, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/7/1483; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/6c343e2e92d34915972b28811c2dccee

المؤلفون: Daniel A. Balikov, Adam Jacobson, Lev Prasov

المصدر: Genes, Vol 12, Iss 9, p 1403 (2021)

مصطلحات موضوعية: juvenile open-angle glaucoma, pediatric glaucoma, Singleton–Merten syndrome, Aicardi–Goutieres syndrome, aniridia, mucopolysaccharidosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/9/1403; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/f583e8fca57948a88cc08d9de6cef90b

المؤلفون: Maria Nieves-Moreno, Susana Noval, Jesus Peralta, María Palomares-Bralo, Angela del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin

المصدر: Genes, Vol 12, Iss 5, p 707 (2021)

مصطلحات موضوعية: PAX6, aniridia, congenital cataracts, nystagmus, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/12/5/707; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/58b32784df0848c8aea483351bda975d