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Tytuł:
Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
Autorzy:
Le V; Eye Research Institute, Oakland University, Rochester, MI 48309, USA.; Oakland University William Beaumont School of Medicine, Rochester, MI 48309, USA.
Abdelmessih G; Eye Research Institute, Oakland University, Rochester, MI 48309, USA.
Dailey WA; Eye Research Institute, Oakland University, Rochester, MI 48309, USA.
Pinnock C; Eye Research Institute, Oakland University, Rochester, MI 48309, USA.
Jobczyk V; Eye Research Institute, Oakland University, Rochester, MI 48309, USA.
Rashingkar R; Oakland University William Beaumont School of Medicine, Rochester, MI 48309, USA.
Drenser KA; Eye Research Institute, Oakland University, Rochester, MI 48309, USA.; Associated Retinal Consultants P.C., Royal Oak, MI 48073, USA.
Mitton KP; Eye Research Institute, Oakland University, Rochester, MI 48309, USA.; Oakland University William Beaumont School of Medicine, Rochester, MI 48309, USA.
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Źródło:
Cells [Cells] 2023 Nov 05; Vol. 12 (21). Date of Electronic Publication: 2023 Nov 05.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Retinal Diseases*/metabolism
Vascular Diseases*/metabolism
Humans ; Child ; Familial Exudative Vitreoretinopathies/metabolism ; Endothelial Cells/metabolism ; Tetraspanins/metabolism ; Frizzled Receptors/genetics ; Frizzled Receptors/metabolism ; DNA-Binding Proteins/metabolism ; Transcription Factors/metabolism
SCR Disease Name:
Norrie disease
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome.
Autorzy:
Asano T; Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.
Oku K; Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.
Kondo H; Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2021 Oct; Vol. 42 (5), pp. 637-640. Date of Electronic Publication: 2021 Jun 09.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Familial Exudative Vitreoretinopathies/*genetics
Loeys-Dietz Syndrome/*diagnosis
Mutation/*genetics
Receptor, Transforming Growth Factor-beta Type II/*genetics
Adolescent ; Familial Exudative Vitreoretinopathies/diagnosis ; Familial Exudative Vitreoretinopathies/surgery ; Fluorescein Angiography ; Genetic Testing ; Humans ; Male ; Pedigree ; Phacoemulsification ; Phenotype ; Tomography, Optical Coherence ; Vitrectomy ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
Autorzy:
Yang J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Xiao X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Sun W; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Li S; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Jia X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Zhang Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
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Źródło:
Current eye research [Curr Eye Res] 2021 Jun; Vol. 46 (6), pp. 839-844. Date of Electronic Publication: 2020 Nov 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Familial Exudative Vitreoretinopathies/*genetics
Genetic Variation/*genetics
Guanine Nucleotide Exchange Factors/*genetics
Retinitis Pigmentosa/*genetics
Asian People ; Familial Exudative Vitreoretinopathies/diagnosis ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Retinitis Pigmentosa/diagnosis ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
Autorzy:
Hoyek S; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
Wang M; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
Berrocal AM; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA.
Wong A; Medical Genetics, Department of Pediatrics, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Massachusetts, USA.
Place EM; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
Mason-Suares H; Department of Pathology, Center for Advanced Molecular Diagnostics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Lin AE; Medical Genetics, Department of Pediatrics, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Massachusetts, USA.
Mukai S; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.
Patel NA; Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts, USA.; Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2023 Apr; Vol. 44 (2), pp. 198-203. Date of Electronic Publication: 2022 Jul 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Retinopathy of Prematurity*/complications
Retinopathy of Prematurity*/diagnosis
Retinopathy of Prematurity*/genetics
Turner Syndrome*/complications
Turner Syndrome*/diagnosis
Turner Syndrome*/genetics
Female ; Infant, Newborn ; Humans ; Familial Exudative Vitreoretinopathies ; Phenotype ; X Chromosome/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene.
Autorzy:
Tanenbaum R; Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Acon D; Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida, USA.
El Hamichi S; Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida, USA.; Murray Ocular Oncology and Retina, Miami, Florida, USA.
Negron C; Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Berrocal AM; Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami, Florida, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2023 Apr; Vol. 44 (2), pp. 171-174. Date of Electronic Publication: 2020 Jun 12.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Retinal Diseases*/diagnosis
Retinopathy of Prematurity*/diagnosis
Retinopathy of Prematurity*/drug therapy
Retinopathy of Prematurity*/genetics
Eye Diseases, Hereditary*/genetics
Infant, Newborn ; Infant ; Humans ; Male ; Child ; Familial Exudative Vitreoretinopathies/genetics ; Genetic Testing ; Mutation ; Fluorescein Angiography ; Neovascularization, Pathologic/genetics ; DNA-Binding Proteins/genetics ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.
Autorzy:
Miraldi Utz V; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, USA.
Ebert JJ; Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, USA.
Brightman DS; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA.
Benoit S; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA.; Division of Nephrology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Sisk RA; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Ophthalmology, University of Cincinnati, Cincinnati, Ohio, USA.; Cincinnati Eye Institute, Cincinnati, Ohio, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2023 Feb; Vol. 44 (1), pp. 89-92. Date of Electronic Publication: 2022 Nov 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Retinal Diseases*/complications
Retinal Diseases*/diagnosis
Retinal Diseases*/genetics
Leber Congenital Amaurosis*/complications
Leber Congenital Amaurosis*/diagnosis
Leber Congenital Amaurosis*/genetics
Eye Diseases, Hereditary*/diagnosis
Eye Diseases, Hereditary*/genetics
Retinal Dystrophies*
Humans ; Familial Exudative Vitreoretinopathies ; Phenotype ; Mutation ; Pedigree ; DNA Mutational Analysis ; Calmodulin-Binding Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy.
Autorzy:
Zhong J; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Shi J; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Zhang X; Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China.; Nankai University Eye Hospital, Tianjin, China.; Tianjin Key Laboratory of Ophthalmology and Visual Science, Tianjin Eye Hospital, Tianjin, China.
Xu K; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Zhang X; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Xie Y; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Li Y; Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Feb; Vol. 11 (2), pp. e2083. Date of Electronic Publication: 2022 Nov 05.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
East Asian People*
Retinal Degeneration*/diagnosis
Versicans*/genetics
Humans ; Familial Exudative Vitreoretinopathies/genetics ; Pedigree ; Retina/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Autorzy:
Rossetti LZ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Golden-Grant K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Tarczy-Hornoch K; Department of Ophthalmology, University of Washington, Seattle, WA, USA.
Briere LC; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Sweetser DA; Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA, USA.
Kravets E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.
Bruenner G; Division of Medical Genetics, Department of Pediatrics, Cohen Children's Medical Center, Queens, NY, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Knapo J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Marcogliese PC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Texas Children's Neurological Research Institute, Houston, TX, USA.
Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Texas Children's Neurological Research Institute, Houston, TX, USA.
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Corporate Authors:
Undiagnosed Diseases Network
Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Jan; Vol. 9 (1), pp. e1542. Date of Electronic Publication: 2020 Dec 22.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Developmental Disabilities/*genetics
Familial Exudative Vitreoretinopathies/*genetics
beta Catenin/*genetics
Child ; Child, Preschool ; Developmental Disabilities/pathology ; Familial Exudative Vitreoretinopathies/pathology ; Female ; Humans ; Infant ; Male ; Mutation, Missense ; Phenotype ; Retina/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Characterization of Unique Lens Morphology in a Cohort of Children with Familial Exudative Vitreoretinopathy.
Autorzy:
Qi D; Southwest Hospital/Southwest Eye Hospital, Army Medical University (Third Military Medical University) , Chongqing, China.
Liu S; Southwest Hospital/Southwest Eye Hospital, Army Medical University (Third Military Medical University) , Chongqing, China.
Yu T; Southwest Hospital/Southwest Eye Hospital, Army Medical University (Third Military Medical University) , Chongqing, China.
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Źródło:
Current eye research [Curr Eye Res] 2020 Oct; Vol. 45 (10), pp. 1222-1227. Date of Electronic Publication: 2020 Mar 13.
Typ publikacji:
Journal Article
MeSH Terms:
Familial Exudative Vitreoretinopathies/*complications
Lens Diseases/*diagnosis
Lens Diseases/*etiology
Lens, Crystalline/*pathology
Child ; Child, Preschool ; Codon, Nonsense ; Familial Exudative Vitreoretinopathies/genetics ; Female ; Fluorescein Angiography ; Humans ; Lens Diseases/surgery ; Lens Implantation, Intraocular ; Lens, Crystalline/surgery ; Male ; Refraction, Ocular/physiology ; Slit Lamp Microscopy ; Ultrasonography ; Visual Acuity/physiology ; Vitrectomy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Role of NDP - and FZD4 -Related Novel Mutations Identified in Patients with FEVR in Norrin/ β -Catenin Signaling Pathway.
Autorzy:
Han S; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou 310000, China.; Department of Obstetrics, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, No. 158, Shangtang Road, Hangzhou, Zhejiang Province, China.; Zhejiang California International Nanosystems Institute, Zhejiang University, Hangzhou 310000, China.; DIAN Diagnostics, Hangzhou 310000, China.
Sun J; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou 310000, China.; Zhejiang California International Nanosystems Institute, Zhejiang University, Hangzhou 310000, China.
Yang L; Department of Obstetrics, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, No. 158, Shangtang Road, Hangzhou, Zhejiang Province, China.
Qi M; Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou 310000, China.; Zhejiang California International Nanosystems Institute, Zhejiang University, Hangzhou 310000, China.; DIAN Diagnostics, Hangzhou 310000, China.; Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Department of Laboratory Medicine, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Dysfunction Management of Zhejiang Province, Hangzhou 310000, China.; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York 14642, USA.
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Źródło:
BioMed research international [Biomed Res Int] 2020 Apr 27; Vol. 2020, pp. 7681926. Date of Electronic Publication: 2020 Apr 27 (Print Publication: 2020).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Association Studies*
Mutation*
Eye Proteins/*genetics
Familial Exudative Vitreoretinopathies/*genetics
Frizzled Receptors/*genetics
Nerve Tissue Proteins/*genetics
Eye Proteins/metabolism ; Familial Exudative Vitreoretinopathies/metabolism ; Familial Exudative Vitreoretinopathies/pathology ; Female ; Frizzled Receptors/metabolism ; HEK293 Cells ; Humans ; Male ; Nerve Tissue Proteins/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.
Autorzy:
Coussa RG; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.; Cellular and Molecular Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
Zhao Y; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
DeBenedictis MJ; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Babiuch A; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Sears J; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Cellular and Molecular Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
Traboulsi EI; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Cellular and Molecular Medicine, Cleveland Clinic, Cleveland, Ohio, USA.
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2020 Feb; Vol. 41 (1), pp. 63-68. Date of Electronic Publication: 2020 Feb 10.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Frameshift Mutation*
Familial Exudative Vitreoretinopathies/*etiology
beta Catenin/*genetics
Familial Exudative Vitreoretinopathies/pathology ; Familial Exudative Vitreoretinopathies/surgery ; Humans ; Infant ; Male ; Prognosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy.
Autorzy:
Li W; BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, China.; He's university, Shenyang, China.
Wang Z; BGI Education Center, University of Chinese Academy of Sciences, Shenzhen, China.
Sun Y; He's university, Shenyang, China.; Shenyang He Eye Specialist Hospital, Shenyang, China.
Wang Z; He's university, Shenyang, China.; Shenyang He Eye Specialist Hospital, Shenyang, China.
Bai J; School of Basic Medicine, Qingdao University, Qingdao, China.
Xing B; School of Basic Medicine, Qingdao University, Qingdao, China.
Sun X; School of Basic Medicine, Qingdao University, Qingdao, China.
Wang L; He's university, Shenyang, China.; Department of Computer Science, City University of Hong Kong, Kowloon, Hong Kong.
Li J; He's university, Shenyang, China.; Department of Computer Science, City University of Hong Kong, Kowloon, Hong Kong.
He W; He's university, Shenyang, China.; Shenyang He Eye Specialist Hospital, Shenyang, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Oct; Vol. 7 (10), pp. e00948. Date of Electronic Publication: 2019 Aug 26.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Familial Exudative Vitreoretinopathies/*diagnosis
Tetraspanins/*genetics
Child ; China ; Codon, Initiator ; Eye/diagnostic imaging ; Familial Exudative Vitreoretinopathies/genetics ; Familial Exudative Vitreoretinopathies/pathology ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; Severity of Illness Index ; Ultrasonography
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.
Autorzy:
Xu H; Institute of Chengdu Biology, Chinese Academy of Sciences, Chengdu, China.
Zhang S; Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Huang L; Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Zhao P; Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Zhang X; Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Yang Z; Institute of Chengdu Biology, Chinese Academy of Sciences, Chengdu, China.; Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Zhang L; Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
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Źródło:
Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2020 Apr; Vol. 48 (3), pp. 356-365. Date of Electronic Publication: 2019 Dec 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Eye Diseases, Hereditary*
Familial Exudative Vitreoretinopathies*/genetics
Frizzled Receptors*/genetics
Retinal Diseases*
China ; DNA Mutational Analysis ; Humans ; Mutation ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutation spectrum in a cohort with familial exudative vitreoretinopathy.
Autorzy:
Qu N; Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine, Peking University Shenzhen Hospital, Shenzhen, China.
Li W; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Han DM; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Gao JY; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Yang ZT; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Jiang L; Department of Ophthalmology, Laizhou City People's Hospital, Yantai, China.
Liu TB; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Chen YX; Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine, Peking University Shenzhen Hospital, Shenzhen, China.
Jiang XS; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Zhou L; Guangdong and Shenzhen Key Laboratory of Reproductive Medicine and Genetics, The Center of Reproductive Medicine, Peking University Shenzhen Hospital, Shenzhen, China.
Wu JH; Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai, China.
Huang X; Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Sep; Vol. 10 (9), pp. e2021. Date of Electronic Publication: 2022 Jul 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Low Density Lipoprotein Receptor-Related Protein-5*/genetics
Retinal Diseases*/genetics
Codon, Nonsense ; DNA Mutational Analysis ; DNA-Binding Proteins/genetics ; Familial Exudative Vitreoretinopathies/genetics ; Frizzled Receptors/genetics ; Guanine Nucleotide Exchange Factors/genetics ; Humans ; Mutation ; Pedigree ; Tetraspanins/genetics ; Transcription Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.
Autorzy:
Wang X; Eye Hospital, The First affiliated Hospital of Harbin Medical University, Key Laboratory of Basic and Clinical Research of Heilongjiang Province, Harbin, Heilongjiang, China.
Chen J; Eye Hospital, The First affiliated Hospital of Harbin Medical University, Key Laboratory of Basic and Clinical Research of Heilongjiang Province, Harbin, Heilongjiang, China.
Xiong H; Eye Hospital, The First affiliated Hospital of Harbin Medical University, Key Laboratory of Basic and Clinical Research of Heilongjiang Province, Harbin, Heilongjiang, China.
Yu X; Eye Hospital, The First affiliated Hospital of Harbin Medical University, Key Laboratory of Basic and Clinical Research of Heilongjiang Province, Harbin, Heilongjiang, China.
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Źródło:
PloS one [PLoS One] 2022 Jul 13; Vol. 17 (7), pp. e0271326. Date of Electronic Publication: 2022 Jul 13 (Print Publication: 2022).
Typ publikacji:
Journal Article; Meta-Analysis; Systematic Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Eye Diseases, Hereditary*/genetics
Retinal Diseases*/genetics
DNA Mutational Analysis ; DNA-Binding Proteins/genetics ; Familial Exudative Vitreoretinopathies ; Frizzled Receptors/genetics ; Genetic Association Studies ; Humans ; Low Density Lipoprotein Receptor-Related Protein-5/genetics ; Mutation ; Pedigree ; Tetraspanins/genetics ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Commentary: Familial exudative vitreoretinopathy-The masquerade in pediatric retinal disorders.
Autorzy:
Sen P; Department of Vitreo-Retina, Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India.
Sreenivasan J; Department of Vitreo-Retina, Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India.
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Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2496-2497.
Typ publikacji:
Journal Article; Comment
MeSH Terms:
Retinal Diseases*/diagnosis
Child ; Familial Exudative Vitreoretinopathies ; Humans ; Vitreous Body
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Management and surgical outcomes of pediatric retinal detachment associated with familial exudative vitreoretinopathy - Our experience at a tertiary care ophthalmic center in North India.
Autorzy:
Agrawal V; Department of Ophthalmology, Sawai Man Singh (SMS) Medical College, Jaipur, Rajasthan, India.
Kalia S; Department of Ophthalmology, Sawai Man Singh (SMS) Medical College, Jaipur, Rajasthan, India.
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Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2490-2496.
Typ publikacji:
Journal Article
MeSH Terms:
Macula Lutea*
Retinal Detachment*/diagnosis
Retinal Detachment*/surgery
Child ; Familial Exudative Vitreoretinopathies ; Humans ; Male ; Prospective Studies ; Tertiary Healthcare ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Hedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation.
Autorzy:
Şahinoğlu Keşkek N; Başkent University Faculty of Medicine, Adana Research and Training Center, Department of Ophthalmology, Adana, Turkey.
Akkoyun İ; Başkent University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey.
Temiz A; Başkent University Faculty of Medicine, Adana Research and Training Center, Department of Pediatric Surgery, Adana, Turkey.
Kütük Ö; Başkent University Faculty of Medicine, Adana Research and Training Center, Department of Medical Genetics, Adana, Turkey.
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Źródło:
Turkish journal of ophthalmology [Turk J Ophthalmol] 2022 Jun 29; Vol. 52 (3), pp. 174-178.
Typ publikacji:
Journal Article
MeSH Terms:
Eye Diseases*
Retinal Diseases*/diagnosis
Vascular Diseases*
Familial Exudative Vitreoretinopathies ; Hedgehog Proteins/genetics ; Humans ; Infant ; Infant, Newborn
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
Autorzy:
Peng L; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Natural Products Research Center, Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
Dai E; Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Xiao H; Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhao R; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
He Y; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Natural Products Research Center, Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.
Li S; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Natural Products Research Center, Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China.
Yang M; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Natural Products Research Center, Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China.
Yang Z; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Natural Products Research Center, Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China.
Zhao P; Department of Ophthalmology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jun; Vol. 10 (6), pp. e1949. Date of Electronic Publication: 2022 Apr 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Eye Diseases, Hereditary*
Retinal Diseases*/genetics
Humans ; beta Catenin/genetics ; Familial Exudative Vitreoretinopathies/genetics ; Tetraspanins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Foveal hypoplasia and characteristics of optical components in patients with familial exudative vitreoretinopathy and retinopathy of prematurity.
Autorzy:
Chen PY; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan.
Kang EY; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan.; College of Medicine, Chang Gung University, Taoyuan, 333, Taiwan.
Chen KJ; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan.; College of Medicine, Chang Gung University, Taoyuan, 333, Taiwan.
Ling XC; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan.
Chang YH; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan.
Wang NK; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, 10027, USA.
Liu L; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan.; College of Medicine, Chang Gung University, Taoyuan, 333, Taiwan.
Chen YP; College of Medicine, Chang Gung University, Taoyuan, 333, Taiwan.; Department of Ophthalmology, Chang Gung Memorial Hospital, Tucheng, 236, Taiwan.
Hwang YS; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan.; College of Medicine, Chang Gung University, Taoyuan, 333, Taiwan.; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, 10027, USA.; Department of Ophthalmology, Jen-Ai Hospital Dali Branch, Taichung, 412, Taiwan.
Lai CC; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan.; Department of Ophthalmology, Chang Gung Memorial Hospital, Keelung, 204, Taiwan.
Wu WC; Department of Ophthalmology, Linkou Chang Gung Memorial Hospital, No. 5, Fu-Hsin Rd., Taoyuan, 333, Taiwan. .; College of Medicine, Chang Gung University, Taoyuan, 333, Taiwan. .
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Źródło:
Scientific reports [Sci Rep] 2022 May 11; Vol. 12 (1), pp. 7694. Date of Electronic Publication: 2022 May 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Myopia*
Optical Devices*
Retinopathy of Prematurity*
Familial Exudative Vitreoretinopathies ; Gestational Age ; Humans ; Infant, Newborn ; Retrospective Studies ; Tomography, Optical Coherence ; Vision Disorders
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 47

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