المؤلفون: Gupta V; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India. gupta_v20032000@yahoo.com., Somarajan BI; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Gupta S; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Mahalingam K; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Singh A; Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India., Sharma A; Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.

المصدر: Journal of human genetics [J Hum Genet] 2023 May; Vol. 68 (5), pp. 355-358. Date of Electronic Publication: 2023 Jan 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Glaucoma, Open-Angle*/genetics , Aniridia*/genetics , Glaucoma*/genetics, Humans ; Male ; Child ; Female ; PAX6 Transcription Factor/genetics ; Homeodomain Proteins/genetics ; Mutation ; Pedigree ; Eye Proteins/genetics

المؤلفون: Lee J; Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea., Suh Y; Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea., Jeong H; Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea., Kim GH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea., Byeon SH; Department of Ophthalmology, Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea., Han J; Department of Ophthalmology, Gangnam Severance Hospital, Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea. jinuhan@yuhs.ac., Lim HT; Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. htlim@amc.seoul.kr.

المصدر: Journal of human genetics [J Hum Genet] 2021 Mar; Vol. 66 (3), pp. 333-338. Date of Electronic Publication: 2020 Sep 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Aniridia/*genetics , PAX6 Transcription Factor/*genetics, 5' Untranslated Regions/genetics ; Algorithms ; Causality ; Deep Learning ; Electrophoretic Mobility Shift Assay ; Eye/embryology ; Gene Expression Regulation ; Genes, Reporter ; Homeodomain Proteins/metabolism ; Humans ; Introns/genetics ; Molecular Sequence Annotation ; PAX6 Transcription Factor/biosynthesis ; PAX6 Transcription Factor/physiology ; Recombinant Proteins/genetics ; Sequence Deletion ; Whole Genome Sequencing

المؤلفون: Kawano T; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan., Wang C; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan.; Medical Photobiology Department, Photon Medical Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan., Hotta Y; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan., Sato M; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan., Iwata-Amano E; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Hikoya A; Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan., Fujita N; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan., Koyama N; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Japan., Shirai S; Department of Ophthalmology, Toyohashi Municipal Hospital, Toyohashi, Japan., Azuma N; Department of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan., Ohtsubo M; Medical Photobiology Department, Photon Medical Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan., Shimizu N; Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan., Minoshima S; Medical Photobiology Department, Photon Medical Research Center, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu, 431-3192, Japan. mino@hama-med.ac.jp.

المصدر: Journal of human genetics [J Hum Genet] 2007; Vol. 52 (7), pp. 571-574. Date of Electronic Publication: 2007 Jun 14.

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

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Point Mutation* , Sequence Deletion*, Aniridia/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Paired Box Transcription Factors/*genetics , Repressor Proteins/*genetics, Base Sequence ; DNA Mutational Analysis ; Female ; Humans ; Japan ; Male ; Mutagenesis, Insertional ; PAX6 Transcription Factor

المؤلفون: Neethirajan G; Department of Genetics, Aravind Medical Research Foundation, Madurai, 625 020, India., Collinson JM; School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK., Krishnadas SR; Department of Glaucoma, Aravind Eye Hospital, Madurai, India., Vijayalakshmi P; Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Madurai, India., Shashikant S; Department of Pediatric Ophthalmology and Strabismus, Aravind Eye Hospital, Madurai, India., Reena C; Department of Molecular Biology, Aravind Medical Research Foundation, Madurai, 625 020, India., Sundaresan P; Department of Genetics, Aravind Medical Research Foundation, Madurai, 625 020, India. sundar@aravind.org.

المصدر: Journal of human genetics [J Hum Genet] 2004; Vol. 49 (11), pp. 647-649. Date of Electronic Publication: 2004 Oct 08.

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

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*genetics , Homeodomain Proteins/*genetics , Mutation/*genetics, Amino Acid Sequence ; Base Sequence ; Cloning, Molecular ; Eye Proteins ; Humans ; India/ethnology ; Molecular Sequence Data ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Repressor Proteins ; Sequence Analysis, DNA

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تسجيل الدخول للوصول الكامل.

المؤلفون: Ana Arteche, Olivier Roche, Marta Corton, Christian Gilissen, Felix Frémont, Patrick Calvas, Adele Schneider, Nicola K. Ragge, Pierre Bitoun, Carmen Ayuso, Dimitra Zafeiropoulou, Julie Plaisancié, Anne Slavotinek, Celia Zazo-Seco, Nicolas Chassaing

المصدر: Journal of Human Genetics, 65, 5, pp. 487-491
Journal of Human Genetics, 65, 487-491

مصطلحات موضوعية: 0301 basic medicine, Genetics, Anophthalmia, genetic structures, Genetic heterogeneity, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], 030105 genetics & heredity, Biology, medicine.disease, Microphthalmia, eye diseases, 03 medical and health sciences, Dysgenesis, 030104 developmental biology, Microspherophakia, Aniridia, medicine, sense organs, Allele, Exome, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6959c4dba548fa29acf679c007b9445f
https://doi.org/10.1038/s10038-020-0726-x

المؤلفون: Junwon Lee, Yoonjong Suh, Suk Ho Byeon, Hyun Taek Lim, Jinu Han, Gu-Hwan Kim, Han Jeong

المصدر: Journal of human genetics. 66(3)

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, PAX6 Transcription Factor, Electrophoretic Mobility Shift Assay, 030105 genetics & heredity, Biology, medicine.disease_cause, Eye, 03 medical and health sciences, Deep Learning, Genes, Reporter, Gene expression, Genetics, medicine, Humans, Gene, Aniridia, Genetics (clinical), Sequence Deletion, Homeodomain Proteins, Mutation, Whole Genome Sequencing, Intron, Molecular Sequence Annotation, medicine.disease, eye diseases, Introns, Recombinant Proteins, Causality, 030104 developmental biology, Gene Expression Regulation, sense organs, PAX6, 5' Untranslated Regions, Algorithms, Minigene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211bcfa09ef6be9dfeba3b388a70f8a9
https://pubmed.ncbi.nlm.nih.gov/32920601

المؤلفون: Shinsei Minoshima, Naoya Fujita, Yoshihiro Hotta, Toshio Kawano, Masafumi Ohtsubo, Norihisa Koyama, Miho Sato, Shoichiro Shirai, Emi Iwata-Amano, Noriyuki Azuma, Nobuyoshi Shimizu, Akiko Hikoya, Chunxia Wang

المصدر: Journal of Human Genetics. 52:571-574

مصطلحات موضوعية: Male, Graphical data, PAX6 Transcription Factor, DNA Mutational Analysis, Biology, Gene mutation, medicine.disease_cause, Frameshift mutation, Japan, Genetics, medicine, Humans, Paired Box Transcription Factors, Point Mutation, Eye Proteins, Frameshift Mutation, Aniridia, Gene, Genetics (clinical), Sequence Deletion, Homeodomain Proteins, Mutation, Base Sequence, medicine.disease, eye diseases, Repressor Proteins, Mutagenesis, Insertional, Female, sense organs, PAX6

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a557e9276457c8b224e4ef7c236817c5
https://doi.org/10.1007/s10038-007-0153-2

المؤلفون: Subbaiah Ramasamy Krishnadas, Periasamy Sundaresan, Guruswamy Neethirajan, Chandrashekhar Reena, Perumalsamy Vijayalakshmi, Shetty Shashikant, J. Martin Collinson

المصدر: Journal of Human Genetics. 49:647-649

مصطلحات موضوعية: PAX6 Transcription Factor, Molecular Sequence Data, India, Biology, medicine.disease_cause, Polymerase Chain Reaction, Exon, Genetics, medicine, Humans, Paired Box Transcription Factors, Amino Acid Sequence, Cloning, Molecular, Allele, Eye Proteins, Aniridia, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Homeodomain Proteins, Mutation, Base Sequence, Single-strand conformation polymorphism, Sequence Analysis, DNA, medicine.disease, Molecular biology, eye diseases, Repressor Proteins, sense organs, PAX6, Haploinsufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09cbee23094bccc283953a194572cb58
https://doi.org/10.1007/s10038-004-0200-1