المؤلفون: SOLER, V, TRAN‐VIET, KN, ST.GERMAIN, E, FOURNIE, P, KLEMM, T, HAWTHORNE, F, AFSHARI, NA, CALVAS, P, MALECAZE, F, YOUNG, T

المصدر: Acta Ophthalmologica (1755375X); Sep2012 Supplement S249, Vol. 90, p0-0, 1p

مصطلحات موضوعية: SINGLE nucleotide polymorphisms, GENETIC mutation, MISSENSE mutation, AUTOIMMUNE diseases, GENE mapping, FAMILIAL spastic paraplegia

المؤلفون: Viet KN; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Hoang T; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Hai DD; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam. dangsp94@gmail.com., Dinh DT; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Bao NN; HNUE High school for gifted students, Hanoi, Vietnam., Nguyen VL; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Duc HD; Cardiovascular and Thoracic Center, Viet Duc University Hospital, Hanoi, Vietnam.

المصدر: World journal of urology [World J Urol] 2024 Jul 11; Vol. 42 (1), pp. 407. Date of Electronic Publication: 2024 Jul 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8307716 Publication Model: Electronic Cited Medium: Internet ISSN: 1433-8726 (Electronic) Linking ISSN: 07244983 NLM ISO Abbreviation: World J Urol Subsets: MEDLINE

مواضيع طبية MeSH: Living Donors* , Kidney Transplantation*/methods , Renal Veins*/surgery, Humans ; Retrospective Studies ; Male ; Female ; Adult ; Middle Aged ; Treatment Outcome ; Tissue and Organ Harvesting/methods ; Veins ; Nephrectomy/methods

المؤلفون: Vu LN; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Nghia NQ; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Tuan TM; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Phuong TH; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Vo HL; Institute for Preventive Medicine and Public Health, Hanoi Medical University, Hanoi, Vietnam.; Department of Scientific Research and International Cooperation, Hanoi Medical University Hospital, Hanoi, Vietnam., Viet KN; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam., Giang TB; Organ Transplantation Center, Viet Duc University Hospital, Hanoi, Vietnam.

المصدر: Frontiers in surgery [Front Surg] 2021 Aug 17; Vol. 8, pp. 646629. Date of Electronic Publication: 2021 Aug 17 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101645127 Publication Model: eCollection Cited Medium: Print ISSN: 2296-875X (Print) Linking ISSN: 2296875X NLM ISO Abbreviation: Front Surg Subsets: PubMed not MEDLINE

المؤلفون: Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL

المصدر: The Journal of clinical investigation [J Clin Invest] 2016 Jul 01; Vol. 126 (7), pp. 2575-87. Date of Electronic Publication: 2016 Jun 06.

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation*, Glaucoma/*congenital , Glaucoma/*genetics , Receptor, TIE-2/*genetics, Angiopoietins/metabolism ; Animals ; Exome ; Family Health ; Gene Dosage ; Humans ; Intraocular Pressure ; Ligands ; Mice ; Mice, Knockout ; Mice, Transgenic ; Mutation ; Mutation, Missense ; Pedigree ; Phenotype ; Phosphorylation ; Signal Transduction ; Trabecular Meshwork

المؤلفون: Lim SH; The Center for Human Genetics, Duke University Medical Center , Durham, NC , USA., St Germain E, Tran-Viet KN, Staffieri S, Marino M, Dollfus PH, Nading EB, Crowe S, Gole G, Perdomo-Trujillo Y, Haybittel M, Elder J, Pelletier V, Traboulsi E, Mackey D, Young TL

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2014 Mar; Vol. 35 (1), pp. 1-6. Date of Electronic Publication: 2013 Jun 26.

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

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: Mutation* , Sequence Analysis, DNA*, Basic Helix-Loop-Helix Transcription Factors/*genetics , Eye Abnormalities/*genetics , Optic Disk/*abnormalities, Female ; Humans ; Male ; Polymerase Chain Reaction

المؤلفون: Metlapally R; School of Optometry, University of California, Berkeley, California, United States of America., Gonzalez P, Hawthorne FA, Tran-Viet KN, Wildsoet CF, Young TL

المصدر: PloS one [PLoS One] 2013 Oct 21; Vol. 8 (10), pp. e78984. Date of Electronic Publication: 2013 Oct 21 (Print Publication: 2013).

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

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Fetus/*metabolism , MicroRNAs/*metabolism , Sclera/*metabolism, Age Factors ; Female ; Fetal Development ; Fetus/anatomy & histology ; Gene Expression Profiling ; Gene Expression Regulation ; Humans ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Sclera/embryology ; Sclera/growth & development

المؤلفون: Tran-Viet KN; Duke Center for Human Genetics, 905 S LaSalle Street, Durham, NC 27710, USA., Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL

المصدر: American journal of human genetics [Am J Hum Genet] 2013 May 02; Vol. 92 (5), pp. 820-6.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Carrier Proteins/*genetics , Chromosomes, Human, Pair 22/*genetics , Gene Expression Regulation/*genetics , Genetic Predisposition to Disease/*genetics , Mitochondrial Proteins/*genetics , Myopia/*genetics, Animals ; Base Sequence ; Codon, Nonsense/genetics ; Copper/metabolism ; Exome/genetics ; Genes, Dominant/genetics ; Humans ; Immunohistochemistry ; Mice ; Molecular Chaperones ; Molecular Sequence Data ; Myopia/pathology ; Point Mutation/genetics ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Sequence Analysis, DNA ; United States ; White People/genetics

المؤلفون: Tran-Viet KN; Duke Center for Human Genetics, 905 S LaSalle Street, 27705, Durham, North Carolina 27710, USA., Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL

المصدر: Molecular vision [Mol Vis] 2013 Apr 05; Vol. 19, pp. 759-66. Date of Electronic Publication: 2013 Apr 05 (Print Publication: 2013).

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

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Arthritis/*genetics , Collagen Type II/*genetics , Connective Tissue Diseases/*genetics , Hearing Loss, Sensorineural/*genetics , Mutation/*genetics , Retinal Degeneration/*genetics , Retinal Detachment/*genetics, Adolescent ; Adult ; Aged ; Base Sequence ; Collagen Type II/metabolism ; DNA Mutational Analysis ; DNA, Complementary/genetics ; Family ; Female ; Gene Expression Regulation ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Versicans/deficiency

SCR Disease Name: Hyaloideoretinal degeneration of Wagner; Stickler syndrome, type 1

المؤلفون: Soler VJ; Ophthalmology Department, Pavillon Dieulafoy, Place Baylac, 31057 Toulouse Cedex 9, France. vincesoler@yahoo.fr, Tran-Viet KN, Galiacy SD, Limviphuvadh V, Klemm TP, St Germain E, Fournié PR, Guillaud C, Maurer-Stroh S, Hawthorne F, Suarez C, Kantelip B, Afshari NA, Creveaux I, Luo X, Meng W, Calvas P, Cassagne M, Arné JL, Rozen SG, Malecaze F, Young TL

المصدر: Journal of medical genetics [J Med Genet] 2013 Apr; Vol. 50 (4), pp. 246-54. Date of Electronic Publication: 2013 Jan 24.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Adaptor Proteins, Signal Transducing/*genetics , Apoptosis Regulatory Proteins/*genetics , Dyskeratosis Congenita/*genetics , Epithelium, Corneal/*pathology, Adaptor Proteins, Signal Transducing/metabolism ; Adult ; Apoptosis Regulatory Proteins/metabolism ; Child ; Corneal Keratocytes/pathology ; Dyskeratosis Congenita/pathology ; Epithelium, Corneal/metabolism ; Exome ; Female ; Gene Frequency ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation, Missense ; NLR Proteins ; Pedigree ; Polymorphism, Single Nucleotide

المؤلفون: Hawthorne F; Duke Center for Human Genetics, Duke University, Durham, NC 27710, USA., Feng S, Metlapally R, Li YJ, Tran-Viet KN, Guggenheim JA, Malecaze F, Calvas P, Rosenberg T, Mackey DA, Venturini C, Hysi PG, Hammond CJ, Young TL

المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2013 Mar 21; Vol. 54 (3), pp. 2076-86. Date of Electronic Publication: 2013 Mar 21.

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

بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Electronic Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Linkage*, Adaptor Proteins, Signal Transducing/*genetics , Carrier Proteins/*genetics , Membrane Proteins/*genetics , Myopia/*genetics , Receptor-Like Protein Tyrosine Phosphatases, Class 7/*genetics, Aged ; Aged, 80 and over ; Chromosome Mapping ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Middle Aged ; Polymorphism, Single Nucleotide

SCR Disease Name: Myopia 3