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Wyszukujesz frazę ""Usher Syndromes"" wg kryterium: Temat


Tytuł :
Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.
Autorzy :
de Joya EM; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Colbert BM; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Medical Scientist Training Program, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Tang PC; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Lam BL; Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL 33136, USA.
Yang J; John A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, UT 84132, USA.
Blanton SH; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Dykxhoorn DM; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Liu X; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.; Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 10; Vol. 22 (8). Date of Electronic Publication: 2021 Apr 10.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Therapy*
Ear, Inner/*pathology
Hearing Loss/*therapy
Retinitis Pigmentosa/*therapy
Usher Syndromes/*therapy
Ear, Inner/growth & development ; Hearing Loss/etiology ; Hearing Loss/genetics ; Hearing Loss/pathology ; Humans ; Mutation/genetics ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/pathology ; Usher Syndromes/etiology ; Usher Syndromes/genetics ; Usher Syndromes/pathology
Czasopismo naukowe
Tytuł :
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families.
Autorzy :
Ahmed AN; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Tahir R; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Khan N; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Ahmad M; Medical Teaching Institution, Hayatabad Medical Complex, Peshawar, 25000, Khyber Pakhtunkhwa, Pakistan.
Dawood M; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Basit A; Medical Teaching Institution, Hayatabad Medical Complex, Peshawar, 25000, Khyber Pakhtunkhwa, Pakistan.
Yasin M; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Nowshid M; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Marwan M; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Sultan K; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Saleha S; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan. .
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Źródło :
BMC ophthalmology [BMC Ophthalmol] 2021 Apr 29; Vol. 21 (1), pp. 191. Date of Electronic Publication: 2021 Apr 29.
Typ publikacji :
Journal Article
MeSH Terms :
Keratoconus*/genetics
Usher Syndromes*/genetics
DNA Mutational Analysis ; Extracellular Matrix Proteins/genetics ; Humans ; Mutation ; Pakistan ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
[Variation analysis of genes associated with Usher syndrome type 1 in 136 Chinese deafness families].
Autorzy :
Ren SM; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Wu QH; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Chen YB; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Jiao ZH; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Kong XD; Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
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Źródło :
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2021 Mar 07; Vol. 56 (3), pp. 236-241.
Typ publikacji :
Journal Article
MeSH Terms :
Deafness*/genetics
Usher Syndromes*/genetics
China/epidemiology ; DNA Mutational Analysis ; Humans ; Mutation ; Myosin VIIa ; Myosins/genetics ; Pedigree
Czasopismo naukowe
Tytuł :
Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.
Autorzy :
D'Esposito F; Imperial College Ophthalmic Research Group (ICORG) Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, UK.; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.; Centro di Ipovisione, U.O.C. di Oculistica A.O.O.R. Villa Sofia-Cervello, Palermo, Italy.; MAGI Euregio, Bolzano, Italy.
Randazzo V; Centro di Ipovisione, U.O.C. di Oculistica A.O.O.R. Villa Sofia-Cervello, Palermo, Italy.
Cennamo G; Eye Clinic, Department of Public Health, University of Naples Federico II, Naples, Italy.
Centore N; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.
Maltese PE; MAGI'S Lab, Rovereto, Italy.
Malesci R; Unit of Audiology and Vestibology, University of Naples Federico II, Naples, Italy.
D'Andrea L; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.
Bertelli M; Eye Clinic, Department of Public Health, University of Naples Federico II, Naples, Italy.; MAGI'S Lab, Rovereto, Italy.
Marciano E; Unit of Audiology and Vestibology, University of Naples Federico II, Naples, Italy.
de Crecchio G; Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.
Pioppo A; Centro di Ipovisione, U.O.C. di Oculistica A.O.O.R. Villa Sofia-Cervello, Palermo, Italy.; U.O.C. di Oculistica A.O.O.R Villa Sofia-Cervello, Palermo, Italy.
Magli A; Department of Pediatric Ophthalmology, University of Salerno, Fisciano, Italy.
Cordeiro MF; Imperial College Ophthalmic Research Group (ICORG) Unit, Western Eye Hospital, Imperial College Healthcare NHS Trust, London, UK.
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Źródło :
European journal of ophthalmology [Eur J Ophthalmol] 2021 Mar; Vol. 31 (2), pp. NP18-NP22. Date of Electronic Publication: 2019 Sep 30.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation, Missense/*genetics
Nerve Tissue Proteins/*genetics
Usher Syndromes/*genetics
Adult ; DNA Mutational Analysis ; Female ; Genotype ; Hearing Tests ; Humans ; Multimodal Imaging ; Pedigree ; Phenotype ; Usher Syndromes/diagnosis
Czasopismo naukowe
Tytuł :
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Autorzy :
Xing D; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, 251 Fukang Road, Tianjin, 300384, China.
Zhou H; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, 251 Fukang Road, Tianjin, 300384, China.
Yu R; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, 251 Fukang Road, Tianjin, 300384, China.
Wang L; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, 251 Fukang Road, Tianjin, 300384, China.
Hu L; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, 251 Fukang Road, Tianjin, 300384, China.
Li Z; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, 251 Fukang Road, Tianjin, 300384, China. .
Li X; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital, 251 Fukang Road, Tianjin, 300384, China. .
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Źródło :
BMC ophthalmology [BMC Ophthalmol] 2020 Dec 10; Vol. 20 (1), pp. 485. Date of Electronic Publication: 2020 Dec 10.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Extracellular Matrix Proteins*/genetics
Usher Syndromes*/diagnosis
Usher Syndromes*/genetics
Adult ; Asian Continental Ancestry Group/genetics ; China ; DNA Mutational Analysis ; Exome ; Humans ; Male ; Mutation ; Pedigree ; Young Adult
Czasopismo naukowe
Tytuł :
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
Autorzy :
Duncan JL; University of California, San Francisco, San Francisco, CA, USA.
Liang W; Jaeb Center for Health Research, Tampa, FL, USA.
Maguire MG; University of Pennsylvania, Philadelphia, PA, USA.
Audo I; Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France.
Ayala AR; Jaeb Center for Health Research, Tampa, FL, USA. Electronic address: .
Birch DG; Retina Foundation of the Southwest, Dallas, TX, USA.
Carroll J; Medical College of Wisconsin Eye Institute, Milwaukee, WI, USA.
Cheetham JK; Foundation Fighting Blindness, Columbia, MD, USA.
Esposti SD; Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.
Durham TA; Foundation Fighting Blindness, Columbia, MD, USA.
Erker L; Casey Eye Institute-Oregon Health & Science University, Portland, OR, USA.
Farsiu S; Department of Ophthalmology, Duke University, Durham, NC, USA.
Ferris FL 3rd; Ophthalmic Research Consultants, Waxhaw, NC, USA.
Heon E; Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada.
Hufnagel RB; National Eye Institute, Bethesda, MD, USA.
Iannaccone A; Department of Ophthalmology, Duke University, Durham, NC, USA.
Jaffe GJ; Department of Ophthalmology, Duke University, Durham, NC, USA.
Kay CN; Vitreoretinal Associates, Gainesville, FL, USA.
Michaelides M; Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, United Kingdom.
Pennesi ME; Casey Eye Institute-Oregon Health & Science University, Portland, OR, USA.
Sahel JA; Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
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Corporate Authors :
Foundation Fighting Blindness Consortium Investigator Group
Źródło :
American journal of ophthalmology [Am J Ophthalmol] 2020 Nov; Vol. 219, pp. 87-100. Date of Electronic Publication: 2020 May 22.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Extracellular Matrix Proteins/*genetics
Retinitis Pigmentosa/*diagnosis
Usher Syndromes/*diagnosis
Vision Disorders/*diagnosis
Visual Fields/*physiology
Adult ; Cross-Sectional Studies ; Disease Progression ; Electroretinography ; Female ; Humans ; Longitudinal Studies ; Male ; Middle Aged ; Research Design ; Retina/physiopathology ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/physiopathology ; Severity of Illness Index ; Usher Syndromes/genetics ; Usher Syndromes/physiopathology ; Vision Disorders/physiopathology ; Visual Acuity/physiology ; Visual Field Tests
SCR Disease Name :
Usher syndrome, type 2A
Czasopismo naukowe
Tytuł :
Atypical and ultra-rare Usher syndrome: a review.
Autorzy :
Nolen RM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Turriff AE; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Brewer CC; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Zalewski CK; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
King KA; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Wafa TT; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Griffith AJ; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
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Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2020 Oct; Vol. 41 (5), pp. 401-412. Date of Electronic Publication: 2020 May 06.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Review
MeSH Terms :
Chromosome Aberrations*
Phenotype*
Rare Diseases/*genetics
Rare Diseases/*pathology
Usher Syndromes/*genetics
Usher Syndromes/*pathology
Animals ; Genotype ; Humans ; Rare Diseases/classification ; Usher Syndromes/classification
Czasopismo naukowe
Tytuł :
Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient.
Autorzy :
Wang K; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Statler B; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Ramos M; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
DeBenedictis MJ; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Babiuch A; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Yuan A; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
Traboulsi EI; Cleveland Clinic, Cole Eye Institute , Cleveland, Ohio, USA.
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Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2020 Oct; Vol. 41 (5), pp. 465-469. Date of Electronic Publication: 2020 Jul 15.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Extracellular Matrix Proteins/*genetics
Multidrug Resistance-Associated Proteins/*genetics
Pseudoxanthoma Elasticum/*pathology
Usher Syndromes/*pathology
Adult ; Female ; Humans ; Prognosis ; Pseudoxanthoma Elasticum/complications ; Pseudoxanthoma Elasticum/genetics ; Retrospective Studies ; Usher Syndromes/complications ; Usher Syndromes/genetics
Czasopismo naukowe
Tytuł :
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
Autorzy :
Birch DG; Retina Foundation of the Southwest, Dallas, TX, USA.
Cheng P; Jaeb Center for Health Research, Tampa, FL, USA.
Duncan JL; University of California, San Francisco, San Francisco, CA, USA.
Ayala AR; Jaeb Center for Health Research, Tampa, FL, USA.
Maguire MG; University of Pennsylvania, Philadelphia, PA, USA.
Audo I; Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France.
Cheetham JK; Foundation Fighting Blindness, Columbia, MD, USA.
Durham TA; Foundation Fighting Blindness, Columbia, MD, USA.
Fahim AT; University of Michigan, Kellogg Eye Center, Ann Arbor, MI, USA.
Ferris FL 3rd; Ophthalmic Research Consultants, Waxhaw, NC, USA.
Heon E; Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada.
Huckfeldt RM; Massachusetts Eye and Ear, Boston, MA, USA.
Iannaccone A; Duke University Medical Center, Department of Ophthalmology, Durham, NC, USA.
Khan NW; University of Michigan, Kellogg Eye Center, Ann Arbor, MI, USA.
Lad EM; Duke University Medical Center, Department of Ophthalmology, Durham, NC, USA.
Michaelides M; Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.
Pennesi ME; Casey Eye Institute - Oregon Health & Science University, Portland, OR, USA.
Stingl K; University Eye Hospital, Center for Ophthalmology, University of Tuebingen, Tuebingen, Germany.; Center for Rare Eye Diseases, University of Tuebingen, Tuebingen, Germany.
Vincent A; Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario, Canada.
Weng CY; Baylor College of Medicine, Houston, TX, USA.
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Corporate Authors :
Foundation Fighting Blindness Consortium Investigator Group
Źródło :
Translational vision science & technology [Transl Vis Sci Technol] 2020 Oct 08; Vol. 9 (11), pp. 9. Date of Electronic Publication: 2020 Oct 08 (Print Publication: 2020).
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Retinitis Pigmentosa*
Usher Syndromes*
Electroretinography ; Female ; Humans ; Male ; Visual Acuity ; Visual Fields
Czasopismo naukowe
Tytuł :
A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.
Autorzy :
Zheng C; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Ren X; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Xing D; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Bu S; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Wen D; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
He Y; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Zhang J; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Dong L; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
Li X; Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.
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Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2020 Oct; Vol. 41 (5), pp. 501-504. Date of Electronic Publication: 2020 Aug 24.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Mutation, Missense*
Cadherins/*genetics
Usher Syndromes/*pathology
Adolescent ; Adult ; Cadherins/metabolism ; Child, Preschool ; Humans ; Male ; Middle Aged ; Pedigree ; Prognosis ; Usher Syndromes/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Autorzy :
Khateb S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Mohand-Saïd S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.
Nassisi M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.
Bonnet C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; INSERM UMRS 1120, Institut de la Vision, Paris, France.
Roux AF; Laboratory of Molecular Genetics, CHRU, Montpellier, France.; Laboratory of Rare Genetic Diseases, EA 7402, University of Montpellier, Montpellier, France.
Andrieu C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.
Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.
Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Devisme C; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.
Loundon N; Otorhinolaryngologie Pédiatrique, Necker, AP-HP, Paris, France.; Centre de référence des Surdités Génétiques, Service de Génétique, APHP Hôpital Necker, Paris, France.
Marlin S; Centre de référence des Surdités Génétiques, Service de Génétique, APHP Hôpital Necker, Paris, France.
Petit C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; INSERM UMRS 1120, Institut de la Vision, Paris, France.; Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Paris, France.; Collège de France, Paris, France.
Bodaghi B; Hôpital Pitié-Salpêtrière, Paris, France.
Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.; Fondation Ophtalmologique Adolphe de Rothschild, Paris, France.; Department of Ophthalmology, University of Pittsburgh Medical School, Pittsburgh, Pennsylvania.; Académie des Sciences-Institut de France, Paris, France; and.
Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC1423, Paris, France.; University College London Institute of Ophthalmology, London, United Kingdom.
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Źródło :
Retina (Philadelphia, Pa.) [Retina] 2020 Aug; Vol. 40 (8), pp. 1603-1615.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Cone-Rod Dystrophies/*genetics
Myosin VIIa/*genetics
Usher Syndromes/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Cone-Rod Dystrophies/diagnosis ; Cone-Rod Dystrophies/physiopathology ; DNA Mutational Analysis ; Electroretinography ; Female ; France ; Genetic Association Studies ; Humans ; Infant ; Male ; Middle Aged ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Retrospective Studies ; Tomography, Optical Coherence ; Usher Syndromes/diagnosis ; Usher Syndromes/physiopathology ; Visual Acuity/physiology ; Visual Field Tests ; Visual Fields/physiology ; Young Adult
Czasopismo naukowe
Tytuł :
The small EF-hand protein CALML4 functions as a critical myosin light chain within the intermicrovillar adhesion complex.
Autorzy :
Choi MS; Department of Biological Sciences, University of Toledo, Toledo, Ohio 43606.
Graves MJ; Department of Biological Sciences, University of Toledo, Toledo, Ohio 43606.
Matoo S; Department of Biological Sciences, University of Toledo, Toledo, Ohio 43606.
Storad ZA; Department of Biological Sciences, University of Toledo, Toledo, Ohio 43606.
El Sheikh Idris RA; Department of Biological Sciences, University of Toledo, Toledo, Ohio 43606.
Weck ML; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee 37240.
Smith ZB; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee 37240.
Tyska MJ; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee 37240.
Crawley SW; Department of Biological Sciences, University of Toledo, Toledo, Ohio 43606 .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2020 Jul 10; Vol. 295 (28), pp. 9281-9296. Date of Electronic Publication: 2020 Mar 24.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Calmodulin/*metabolism
Cell Membrane/*metabolism
Enterocytes/*metabolism
Myosin Light Chains/*metabolism
Usher Syndromes/*metabolism
Animals ; COS Cells ; Caco-2 Cells ; Calmodulin/genetics ; Cell Membrane/genetics ; Cell Membrane/pathology ; Chlorocebus aethiops ; Enterocytes/pathology ; HEK293 Cells ; Humans ; Mice ; Mice, Knockout ; Myosin Heavy Chains/metabolism ; Myosin Light Chains/genetics ; Myosin Type II/metabolism ; Usher Syndromes/genetics ; Usher Syndromes/pathology
Czasopismo naukowe
Tytuł :
Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review.
Autorzy :
Arcous M; Denis Diderot - Sorbonne Paris Cité, Université VII, Paris, France.
Putois O; Faculty of Psychology, Université de Strasbourg, Strasbourg, France.; Department of Psychiatry, Mental Health and Addictology, Strasbourg University Hospital, Strasbourg, France.
Dalle-Nazébi S; Fondation Maison des Sciences de l'Homme, Paris, France.
Kerbourch S; Fondation Maison des Sciences de l'Homme, Paris, France.
Cariou A; CIC CHNO des Quinze-Vingts/Inserm CIC 50, Paris, France.
Ben Aissa I; Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France.; Hôpitaux universitaires de Strasbourg-Filière de santé maladie rare, SENSGENE, Strasbourg, France.
Marlin S; Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France.; Hôpitaux universitaires de Strasbourg-Filière de santé maladie rare, SENSGENE, Strasbourg, France.; Sorbonne Paris Cité, Université Paris Descartes, Paris, France.
Potier R; Denis Diderot - Sorbonne Paris Cité, Université VII, Paris, France.
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Źródło :
Disability and rehabilitation [Disabil Rehabil] 2020 Sep; Vol. 42 (19), pp. 2809-2820. Date of Electronic Publication: 2019 Apr 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Deaf-Blind Disorders*
Usher Syndromes*
Caregivers ; Humans ; Interpersonal Relations ; Quality of Life
Czasopismo naukowe
Tytuł :
A new light chain for myosin-7.
Autorzy :
Kapustina M; Dept. of Cell Biology and Physiology, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.
Cheney RE; Dept. of Cell Biology and Physiology, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2020 Jul 10; Vol. 295 (28), pp. 9297-9298.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Comment
MeSH Terms :
Myosin VIIa*
Usher Syndromes*
Cadherins/metabolism ; Dyneins ; Humans ; Myosin Light Chains
Czasopismo naukowe
Tytuł :
Living with type I Usher syndrome: insights from patients and their parents.
Autorzy :
Roborel de Climens A; Clinical Outcomes Generation, Sanofi , Lyon, France.
Tugaut B; Patient-Centered Outcomes, ICON Plc , Lyon, France.
Piscopo A; Global HEVA Early Portfolio, Sanofi , Chilly-Mazarin, France.
Arnould B; Patient-Centered Outcomes, ICON Plc , Lyon, France.
Buggage R; Research and Development, Sanofi , Chilly-Mazarin, France.
Brun-Strang C; Global HEVA Early Portfolio, Sanofi , Chilly-Mazarin, France.
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Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2020 Jun; Vol. 41 (3), pp. 240-251. Date of Electronic Publication: 2020 May 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Adaptation, Psychological*
Patient Reported Outcome Measures*
Activities of Daily Living/*psychology
Parents/*psychology
Usher Syndromes/*psychology
Adolescent ; Adult ; Aged ; Child ; Female ; Follow-Up Studies ; Humans ; Interviews as Topic ; Male ; Middle Aged ; Prognosis ; Qualitative Research ; Usher Syndromes/physiopathology ; Usher Syndromes/rehabilitation ; Young Adult
Czasopismo naukowe
Tytuł :
[Clinical phenotype and genotype analysis of the family with the Usher syndrome].
Autorzy :
Lin C; Department of Critical Care Medicine, People's Hospital of Liaoning Province, Shenyang, Liaoning 110016, China. .
Lyu Y
Li C
Zhang Z
Feng X
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Apr 10; Vol. 37 (4), pp. 431-433.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Genotype*
Phenotype*
Usher Syndromes*/genetics
Usher Syndromes*/pathology
Child ; Female ; Genetic Variation ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Myosin VIIa/genetics ; Night Blindness/etiology ; Pedigree
Czasopismo naukowe
Tytuł :
Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A .
Autorzy :
Hagag AM; NIHR Clinical Research Facility, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.
Mitsios A; NIHR Clinical Research Facility, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.
Gill JS; Institute of Ophthalmology, University College London, London, UK.
Nunez Do Rio JM; Institute of Ophthalmology, University College London, London, UK.
Theofylaktopoulos V; Institute of Ophthalmology, University College London, London, UK.
Houston S; Institute of Ophthalmology, University College London, London, UK.
Webster AR; Institute of Ophthalmology, University College London, London, UK.; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Dubis AM; NIHR Clinical Research Facility, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.
Moosajee M; Institute of Ophthalmology, University College London, London, UK .; Genetics Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
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Źródło :
The British journal of ophthalmology [Br J Ophthalmol] 2020 Apr; Vol. 104 (4), pp. 480-486. Date of Electronic Publication: 2019 Jul 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Extracellular Matrix Proteins/*genetics
Myosin VIIa/*genetics
Retinal Diseases/*diagnosis
Retinal Vessels/*pathology
Usher Syndromes/*pathology
Adult ; Choroid/blood supply ; Choroid/diagnostic imaging ; Female ; Fluorescein Angiography ; Humans ; Male ; Middle Aged ; Retinal Diseases/genetics ; Retinal Diseases/physiopathology ; Retinal Vessels/diagnostic imaging ; Tomography, Optical Coherence ; Usher Syndromes/diagnostic imaging ; Usher Syndromes/genetics ; Visual Acuity/physiology ; Visual Field Tests ; Young Adult
SCR Disease Name :
Usher syndrome, type 2A
Czasopismo naukowe
Tytuł :
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.
Autorzy :
Brodie KD; Department of Otolaryngology - Head and Neck Surgery, University of California, San Francisco, California, U.S.A.
Moore AT; Department of Ophthalmology, University of California, San Francisco, California, U.S.A.
Slavotinek AM; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California, U.S.A.
Meyer AK; Department of Otolaryngology - Head and Neck Surgery, University of California, San Francisco, California, U.S.A.; Division of Pediatric Otolaryngology-Head and Neck Surgery, University of California, San Francisco, California, U.S.A.
Nadaraja GS; Department of Otolaryngology - Head and Neck Surgery, University of California, San Francisco, California, U.S.A.; Division of Pediatric Otolaryngology-Head and Neck Surgery, University of California, San Francisco, California, U.S.A.
Conrad DE; Department of Otolaryngology - Head and Neck Surgery, University of California, San Francisco, California, U.S.A.; Division of Pediatric Otolaryngology-Head and Neck Surgery, University of California, San Francisco, California, U.S.A.
Weinstein JE; Department of Otolaryngology - Head and Neck Surgery, University of California, San Francisco, California, U.S.A.; Division of Pediatric Otolaryngology-Head and Neck Surgery, University of California, San Francisco, California, U.S.A.
Chan DK; Department of Otolaryngology - Head and Neck Surgery, University of California, San Francisco, California, U.S.A.; Division of Pediatric Otolaryngology-Head and Neck Surgery, University of California, San Francisco, California, U.S.A.
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Źródło :
The Laryngoscope [Laryngoscope] 2021 Jun; Vol. 131 (6), pp. E2053-E2059. Date of Electronic Publication: 2020 Oct 28.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Testing*
Eye Diseases/*genetics
Usher Syndromes/*genetics
Adolescent ; Child ; Child, Preschool ; Early Diagnosis ; Female ; Genotype ; Humans ; Infant ; Male ; Phenotype
Czasopismo naukowe
Tytuł :
[A case report of congenital sensorineural deafness caused by novel mutation in Usher1C and related literature analysis].
Autorzy :
Guo M
Han W
Li S
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Źródło :
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery [Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2020 Jun; Vol. 34 (6), pp. 562-564.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Usher Syndromes*
Deafness/*genetics
Hearing Loss, Sensorineural/*genetics
Child ; China ; Genetic Testing ; Humans ; Mutation ; Pedigree
Czasopismo naukowe
Tytuł :
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Autorzy :
Molina-Ramírez LP; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Lenassi E; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University Hospitals NHS Foundation Trust.
Ellingford JM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Sergouniotis PI; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University Hospitals NHS Foundation Trust.
Ramsden SC; North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Bruce IA; Paediatric ENT Department, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre.; Division of Infection, Immunity and Respiratory Medicine, Faculty of Biology, Medicine and Health University of Manchester, Manchester, UK.
Black GCM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University Hospitals NHS Foundation Trust.
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Źródło :
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2020 Apr; Vol. 41 (4), pp. 431-437.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Usher Syndromes*/genetics
Adult ; Extracellular Matrix Proteins/genetics ; Genetic Association Studies ; Genotype ; Humans ; Mutation
Czasopismo naukowe

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