المؤلفون: Zhou Y; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China., Xu MF; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China., Chen J; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China., Zhang JL; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China., Wang XY; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China., Huang MH; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China., Wei YL; Medical Research Center, Fujian Maternity and Child Health Hospital, Fuzhou, Fujian, 350001, China; College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, 350122, China., She ZY; Department of Cell Biology and Genetics, The School of Basic Medical Sciences, Fujian Medical University, Fuzhou, Fujian, 350122, China; Key Laboratory of Stem Cell Engineering and Regenerative Medicine, Fujian Province University, Fuzhou, Fujian, 350122, China. Electronic address: zhenyushe@fjmu.edu.cn.

المصدر: Experimental cell research [Exp Cell Res] 2024 Mar 01; Vol. 436 (1), pp. 113975. Date of Electronic Publication: 2024 Feb 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 0373226 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2422 (Electronic) Linking ISSN: 00144827 NLM ISO Abbreviation: Exp Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Facies* , Lymphedema* , Microcephaly*/genetics , Retinal Diseases* , Retinal Dysplasia*, Animals ; Cell Cycle Checkpoints/genetics ; Chromosomal Instability ; Developmental Disabilities ; Kinesins/genetics ; Kinesins/metabolism ; Phenotype ; Zebrafish/genetics ; Zebrafish/metabolism

SCR Disease Name: Lymphedema, microcephaly and chorioretinopathy syndrome

المؤلفون: Silva NÁ; Centro Hospitalar e Universitário de São João, Porto, Portugal. nuno.alvaro.silva@gmail.com., Silva RES; Centro Hospitalar e Universitário de São João, Porto, Portugal., Magalhães AA; Centro Hospitalar e Universitário de São João, Porto, Portugal.

المصدر: BMC ophthalmology [BMC Ophthalmol] 2024 Aug 26; Vol. 24 (1), pp. 372. Date of Electronic Publication: 2024 Aug 26.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics , Microcephaly*/diagnosis , Lymphedema*/genetics , Lymphedema*/diagnosis , Intellectual Disability*/genetics , Intellectual Disability*/diagnosis, Humans ; Female ; Retinal Diseases/diagnosis ; Retinal Diseases/genetics ; Retinal Dysplasia ; Kinesins ; Facies

SCR Disease Name: Lymphedema, microcephaly and chorioretinopathy syndrome

المؤلفون: Alahmadi G; Pediatric Ophthalmology and Strabismus Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Alshamrani AA; Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Albakri A; Pediatric Ophthalmology and Strabismus Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2023 Apr; Vol. 44 (2), pp. 205-207. Date of Electronic Publication: 2022 Aug 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Dysplasia* , Microcephaly* , Lymphedema*, Humans ; Facies ; Kinesins/genetics

SCR Disease Name: Lymphedema, microcephaly and chorioretinopathy syndrome

المؤلفون: Bott MM; Ecole Nationale Vétérinaire d'Alfort, CHUV-AC, Ophthalmology Unit, Maisons-Alfort F-94700, France., Chahory S; Ecole Nationale Vétérinaire d'Alfort, CHUV-AC, Ophthalmology Unit, Maisons-Alfort F-94700, France.

المصدر: Journal of feline medicine and surgery [J Feline Med Surg] 2022 Dec; Vol. 24 (12), pp. 1274-1282. Date of Electronic Publication: 2022 Mar 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Sage Country of Publication: England NLM ID: 100897329 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2750 (Electronic) Linking ISSN: 1098612X NLM ISO Abbreviation: J Feline Med Surg Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Dysplasia*/veterinary , Sepsis*/veterinary , Cat Diseases*/epidemiology , Cat Diseases*/genetics, Male ; Cats ; Animals ; Retrospective Studies ; France/epidemiology

المؤلفون: Ripolles-Garcia A; Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Holle DM; The Seeing Eye Inc, Morristown, New Jersey, USA., Cohen JA; The Seeing Eye Inc, Morristown, New Jersey, USA., Beltran WA; Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Aguirre GD; Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

المصدر: Veterinary ophthalmology [Vet Ophthalmol] 2022 May; Vol. 25 Suppl 1, pp. 193-200. Date of Electronic Publication: 2021 Nov 22.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Blackwell Science Country of Publication: England NLM ID: 100887377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1463-5224 (Electronic) Linking ISSN: 14635216 NLM ISO Abbreviation: Vet Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Dog Diseases/*diagnostic imaging , Ophthalmoscopy/*veterinary , Retinal Dysplasia/*veterinary , Tomography, Optical Coherence/*veterinary, Animals ; Dog Diseases/pathology ; Dogs ; Fluorescein Angiography/methods ; Fluorescein Angiography/veterinary ; Microscopy, Confocal/veterinary ; Microvessels/abnormalities ; Microvessels/diagnostic imaging ; Microvessels/pathology ; Ophthalmoscopy/methods ; Retina/diagnostic imaging ; Retinal Dysplasia/diagnostic imaging ; Retinal Dysplasia/pathology ; Retinal Vessels/diagnostic imaging ; Retinal Vessels/pathology ; Tomography, Optical Coherence/methods

المؤلفون: Weatherly SM; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Collin GB; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Charette JR; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Stone L; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Damkham N; The Jackson Laboratory, Bar Harbor, Maine, United States of America.; Graduate Program in Immunology, Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Siriraj Center of Excellence for Stem Cell Research, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Hyde LF; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Peterson JG; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Hicks W; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Carter GW; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Naggert JK; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Krebs MP; The Jackson Laboratory, Bar Harbor, Maine, United States of America., Nishina PM; The Jackson Laboratory, Bar Harbor, Maine, United States of America.

المصدر: PLoS genetics [PLoS Genet] 2022 Jun 08; Vol. 18 (6), pp. e1009798. Date of Electronic Publication: 2022 Jun 08 (Print Publication: 2022).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

مواضيع طبية MeSH: Nerve Tissue Proteins*/genetics , Nerve Tissue Proteins*/metabolism , Retinal Dysplasia*/genetics , Retinal Dysplasia*/metabolism , Retinal Dysplasia*/pathology , Rho Guanine Nucleotide Exchange Factors*/genetics , Rho Guanine Nucleotide Exchange Factors*/metabolism, Animals ; Disease Models, Animal ; Eye Proteins/genetics ; Eye Proteins/metabolism ; Isoenzymes/genetics ; Isoenzymes/metabolism ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice ; Mice, Inbred C57BL ; Mutation ; Protein Kinase C/genetics ; Protein Kinase C/metabolism ; Retina/metabolism ; Retinal Degeneration/genetics ; Retinal Degeneration/metabolism ; Retinal Degeneration/pathology

المؤلفون: Guo Z; Medical Genetic Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, National Health Commission Key Laboratory of Birth Defects Prevention, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.; People's Hospital of Henan University, School of Medicine, Henan University, Zhengzhou, China., Huo X; Medical Genetic Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, National Health Commission Key Laboratory of Birth Defects Prevention, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.; People's Hospital of Henan University, School of Medicine, Henan University, Zhengzhou, China., Wu D; Medical Genetic Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, National Health Commission Key Laboratory of Birth Defects Prevention, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.; People's Hospital of Henan University, School of Medicine, Henan University, Zhengzhou, China., Hao B; Medical Genetic Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, National Health Commission Key Laboratory of Birth Defects Prevention, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.; People's Hospital of Henan University, School of Medicine, Henan University, Zhengzhou, China.; Cancer Research Institute, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Liao S; Medical Genetic Institute of Henan Province, Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, National Health Commission Key Laboratory of Birth Defects Prevention, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.; People's Hospital of Henan University, School of Medicine, Henan University, Zhengzhou, China.

المصدر: Developmental neuroscience [Dev Neurosci] 2022; Vol. 44 (2), pp. 113-120. Date of Electronic Publication: 2021 Aug 31.

نوع المنشور: Case Reports; News

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 7809375 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9859 (Electronic) Linking ISSN: 03785866 NLM ISO Abbreviation: Dev Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly*/genetics , Retinal Dysplasia*/genetics, Humans ; Kinesins/genetics ; Leukocytes, Mononuclear ; Pedigree ; RNA Splicing/genetics

المؤلفون: Kong K; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, 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, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China., Xie Z; Joint School of Life Sciences, Guangzhou Medical University and Guangzhou Institutes of Biomedicine and Health (Chinese Academy of Sciences), Guangzhou, 510060, China., Wang L; The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, 510060, China., Jiang J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China., Liu Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China., Du S; Dongguan Tungwah Hospital, Dongguan, 523000, China., Jiang J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China., Song Y; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China., Lin F; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China., Wang W; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China., Fang X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China., Shi Z; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China. zhuoxing1988@163.com., Zhang X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China. zhangxl2@mail.sysu.edu.cn., Chen S; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangdong Provincial Clinical Research Center for Ocular Diseases, Guangzhou, 510060, China. chenshd3@mail.sysu.edu.cn.

المصدر: Scientific data [Sci Data] 2023 Sep 23; Vol. 10 (1), pp. 653. Date of Electronic Publication: 2023 Sep 23.

نوع المنشور: Dataset; Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE

مواضيع طبية MeSH: Retina*/growth & development , RNA, Long Noncoding*/genetics, Animals ; Mice ; Aging/genetics ; Gene Expression Profiling ; Retinal Degeneration/genetics ; RNA, Messenger/genetics ; Retinal Dysplasia/genetics ; Humans

المؤلفون: Osinchuk SC; Department of Small Animal Clinical Sciences, Western College of Veterinary Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada., Sandmeyer LS; Department of Small Animal Clinical Sciences, Western College of Veterinary Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada., Grahn BH; Department of Small Animal Clinical Sciences, Western College of Veterinary Medicine, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.

المصدر: Veterinary ophthalmology [Vet Ophthalmol] 2020 Nov; Vol. 23 (6), pp. 957-963. Date of Electronic Publication: 2020 Sep 29.

نوع المنشور: Comparative Study; Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: England NLM ID: 100887377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1463-5224 (Electronic) Linking ISSN: 14635216 NLM ISO Abbreviation: Vet Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Dog Diseases/*diagnostic imaging , Retinal Detachment/*veterinary , Retinal Dysplasia/*veterinary, Animals ; Dogs ; Fluorescein Angiography/veterinary ; Male ; Ophthalmoscopy/veterinary ; Retinal Detachment/diagnostic imaging ; Retinal Dysplasia/diagnostic imaging ; Retrospective Studies ; Tomography, Optical Coherence/veterinary

المؤلفون: Iwabe S; Section of Ophthalmology, Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvanias., Dufour VL; Section of Ophthalmology, Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvanias., Guzmán JM; Section of Ophthalmology, Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvanias., Holle DM; The Seeing Eye Inc, Morristown, New Jersey., Cohen JA; The Seeing Eye Inc, Morristown, New Jersey., Beltran WA; Section of Ophthalmology, Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvanias., Aguirre GD; Section of Ophthalmology, Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvanias.

المصدر: Veterinary ophthalmology [Vet Ophthalmol] 2020 Mar; Vol. 23 (2), pp. 292-304. Date of Electronic Publication: 2019 Nov 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: England NLM ID: 100887377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1463-5224 (Electronic) Linking ISSN: 14635216 NLM ISO Abbreviation: Vet Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Dog Diseases/*pathology , Retinal Dysplasia/*veterinary, Animals ; Dog Diseases/genetics ; Dogs ; Female ; Genetic Predisposition to Disease ; Male ; Retinal Dysplasia/genetics ; Retinal Dysplasia/pathology