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49 results for NDP+gene

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ArticlesPeer ReviewedFull Text
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
Author / Creator:Marakhonov, Andrey V. ; Mishina, Irina A. ; Kadyshev, Vitaly V. ; Repina, Svetlana A. ; Shurygina, Maria F. ; Shchagina, Olga A. ; Vasserman, Natalya N. ; Vasilyeva, Tatyana A. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2020-10, Vol.21 (S1), p.156-5, Article 156
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Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy
Author / Creator:Jia, Li-Yun ; Ma, Kai
Publisher:England: BioMed Central Ltd
Journal title:BMC ophthalmology, 2021-02, Vol.21 (1), p.84-84, Article 84
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Clinical and genetic analysis of Indian patients with NDP-related retinopathies
Author / Creator:Sudha, Dhandayuthapani ; Ganapathy, Aparna ; Mohan, Puja ; Mannan, Ashraf U. ; Krishna, Shuba ; Neriyanuri, Srividya ; Swaminathan, Meenakshi ; Rishi, Pukhraj ; Chidambaram, Subbulakshmi ; Arunachalam, Jayamuruga Pandian
Publisher:Dordrecht: Springer Netherlands
Journal title:International ophthalmology, 2018-06, Vol.38 (3), p.1251-1260
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A novel contiguous deletion involving NDP,MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits
Author / Creator:Jia, Bei ; Huang, Liping ; Chen, Yaoyu ; Liu, Siping ; Chen, Cuihua ; Xiong, Ke ; Song, Lanlin ; Zhou, Yulai ; Yang, Xinping ; Zhong, Mei
Publisher:New Delhi: Springer India
Journal title:Journal of genetics, 2017-12, Vol.96 (6), p.1015-1020
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Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively
Author / Creator:Walker, Jennifer L. ; Dixon, Joanne ; Fenton, Colin R. ; Hungerford, John ; Lynch, Sally A. ; Stenhouses, Susan A. R. ; Christian, A ; Craig, Ian W.
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 1997, Vol.9 (1), p.53-56
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Study Data from Shaheed Beheshti University of Medical Sciences Update Understanding of Norrie Disease (A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2018-04, p.6454
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Studies from Shahid Beheshti University of Medical Sciences Yield New Information about Norrie Disease (A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2017-10, p.4671
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Audiologic Features of Norrie Disease
Author / Creator:Halpin, Chris ; Owen, Grace ; Gutiérrez-Espeleta, Gustavo A. ; Sims, Katherine ; Rehm, Heidi L.
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Annals of otology, rhinology & laryngology, 2005-07, Vol.114 (7), p.533-538
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The population genomics of structural variation in a songbird genus
Author / Creator:Weissensteiner, Matthias Helfried ; Bunikis, Ignas ; Catalan, Ana ; Kees-Jan Francoijs ; Knief, Ulrich ; Heim, Wieland ; Peona, Valentina ; Pophaly, Saurabh ; Sedlazeck, Fritz ; Suh, Alexander ; Warmuth, Vera ; Wolf, Jochen
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2019-11
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Familial cases of Norrie disease detected by copy number analysis
Author / Creator:Arai, Eisuke ; Fujimaki, Takuro ; Yanagawa, Ai ; Fujiki, Keiko ; Yokoyama, Toshiyuki ; Okumura, Akihisa ; Shimizu, Toshiaki ; Murakami, Akira
Publisher:Tokyo: Springer Japan
Journal title:Japanese journal of ophthalmology, 2014-09, Vol.58 (5), p.448-454
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Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon
Author / Creator:Vickrey, Anna I ; Bruders, Rebecca ; Kronenberg, Zev ; Mackey, Emma ; Bohlender, Ryan J ; Maclary, Emily T ; Maynez, Raquel ; Osborne, Edward J ; Johnson, Kevin P ; Huff, Chad D ; Yandell, Mark ; Shapiro, Michael D
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2018-07, Vol.7
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Wnt-Spectrum Vitreoretinopathy Masquerading as Congenital Toxoplasmosis
Author / Creator:Callaway, Natalia F. ; Berrocal, Audina M.
Publisher:United States: SLACK INCORPORATED
Journal title:Ophthalmic surgery, lasers & imaging, 2018-06, Vol.49 (6), p.446-450
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ArticlesPeer ReviewedFull Text
Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity
Author / Creator:Rathi, Sonika ; Jalali, Subhadra ; Musada, Ganeswara Rao ; Patnaik, Satish ; Balakrishnan, Divya ; Hussain, Anjli ; Kaur, Inderjeet
Publisher:England: BMJ Publishing Group LTD
Journal title:British journal of ophthalmology, 2018-02, Vol.102 (2), p.276-281
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Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina
Author / Creator:Beck, Susanne C. ; Karlstetter, Marcus ; Garcia Garrido, Marina ; Feng, Yuxi ; Dannhausen, Katharina ; Mühlfriedel, Regine ; Sothilingam, Vithiyanjali ; Seebauer, Britta ; Berger, Wolfgang ; Hammes, Hans-Peter ; Seeliger, Mathias W. ; Langmann, Thomas
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-04, Vol.8 (1), p.5970-16, Article 5970
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Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome
Author / Creator:Todorich, Bozho ; Thanos, Aristomenis ; Yonekawa, Yoshihiro ; Capone, Antonio
Publisher:United States: SLACK INCORPORATED
Journal title:Ophthalmic surgery, lasers & imaging, 2017-03, Vol.48 (3), p.260-262
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Data on Luminescent Proteins Discussed by Researchers at University of Electronic Science and Technology of China (Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2020-10, p.971
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A Novel Missense NDP Mutation [p.(Cys93Arg)] with a Manifesting Carrier in an Austrian Family with Norrie Disease
Author / Creator:Parzefall, Thomas ; Lucas, Trevor ; Ritter, Markus ; Ludwig, Martin ; Ramsebner, Reinhard ; Frohne, Alexandra ; Schöfer, Christian ; Hengstschläger, Markus ; Frei, Klemens
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Audiology & neurotology, 2014-01, Vol.19 (3), p.203-209
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A Rare Condition: The Impact of Coats Disease on Vision
Author / Creator:Sai Vidhya Bollamreddy, Haritha ; Tammineni, Ashmitha ; Kumar Mugada, Vinod ; Rao Yarguntla, Srinivasa
Publisher:Raipur: A&V Publications
Journal title:Research journal of pharmacology and pharmacodynamics, 2023-11, Vol.15 (4), p.217-222
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Corrigendum to “Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy”
Author / Creator:Buzzonetti, Luca ; Ziccardi, Lucia ; Catena, Gino ; Benedetti, Sabrina ; Bruson, Alice ; Marchini, Giorgio ; Gusson, Elena ; Maltese, Paolo Enrico ; Bertelli, M. ; Iarossi, Giancarlo ; Volpetti, Sabrina
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:Journal of ophthalmology, 2017-01, Vol.2017 (2017), p.1-2
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Osteosarcoma Derived from Donor Stem Cells Carrying the Norrie's Disease Gene
Author / Creator:Ferrari, Stefano ; Berger, Massimo ; Muraro, Michela ; Fagioli, Franca
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2008-12, Vol.359 (23), p.2502-2504
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Showing 21 to 40 of 49 results

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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

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Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy

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Clinical and genetic analysis of Indian patients with NDP-related retinopathies

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A novel contiguous deletion involving NDP,MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits

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Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively

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Study Data from Shaheed Beheshti University of Medical Sciences Update Understanding of Norrie Disease (A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease)

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Studies from Shahid Beheshti University of Medical Sciences Yield New Information about Norrie Disease (A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease)

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Audiologic Features of Norrie Disease

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The population genomics of structural variation in a songbird genus

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Familial cases of Norrie disease detected by copy number analysis

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Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon

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Wnt-Spectrum Vitreoretinopathy Masquerading as Congenital Toxoplasmosis

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Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity

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Cystoid edema, neovascularization and inflammatory processes in the murine Norrin-deficient retina

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Repair of Total Tractional Retinal Detachment in Norrie Disease: Report of Technique and Successful Surgical Outcome

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Data on Luminescent Proteins Discussed by Researchers at University of Electronic Science and Technology of China (Identification of Novel Mutations in the FZD4 and NDP Genes in Patients with Familial...

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A Novel Missense NDP Mutation [p.(Cys93Arg)] with a Manifesting Carrier in an Austrian Family with Norrie Disease

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A Rare Condition: The Impact of Coats Disease on Vision

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Corrigendum to “Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy”

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Osteosarcoma Derived from Donor Stem Cells Carrying the Norrie's Disease Gene

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