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49 results for NDP+gene

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Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree
Author / Creator:Jiang, Keke ; Wang, Shuying ; Sun, Huixin ; Peng, Chuanzhi ; Li, Nan ; Li, Shuchan ; Gao, Rongyu ; Zhang, Jie
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2345-n/a
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A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease
Author / Creator:Andarva, Monavvar ; Jamshidi, Javad ; Ghaedi, Hamid ; Daftarian, Narsis ; Emamalizadeh, Babak ; Alehabib, Elham ; Taghavi, Shaghyegh ; Pouriran, Ramin ; Darvish, Hossein
Publisher:Melbourne: Taylor & Francis
Journal title:Clinical and experimental optometry, 2018-03, Vol.101 (2), p.255-259
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Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease
Author / Creator:Huang, Xiaoyan ; Tian, Mao ; Li, Jiankang ; Cui, Ling ; Li, Min ; Zhang, Jianguo
Publisher:India: Medknow Publications and Media Pvt. Ltd
Journal title:Indian journal of ophthalmology, 2017-11, Vol.65 (11), p.1161-1165
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A Novel Pathogenic Variant in NDP Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy
Author / Creator:Scott, Nathan L. ; Tran, Kimberly D. ; Russell, Jonathan F. ; Hinkle, John W. ; Cernichiaro-Espinosa, Linda A. ; Lauer, Andreas ; Berrocal, Audina M.
Publisher:United States: Slack, Inc
Journal title:Ophthalmic surgery, lasers & imaging, 2019-02, Vol.50 (2), p.120-124
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Discovery and population genomics of structural variation in a songbird genus
Author / Creator:Weissensteiner, Matthias H. ; Bunikis, Ignas ; Catalán, Ana ; Francoijs, Kees-Jan ; Knief, Ulrich ; Heim, Wieland ; Peona, Valentina ; Pophaly, Saurabh D. ; Sedlazeck, Fritz J. ; Suh, Alexander ; Warmuth, Vera M. ; Wolf, Jochen B. W.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-07, Vol.11 (1), p.3403-11, Article 3403
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NDP gene mutations in 14 French families with Norrie disease
Author / Creator:Royer, Ghislaine ; Hanein, Sylvain ; Raclin, Valérie ; Gigarel, Nadine ; Rozet, Jean-Michel ; Munnich, Arnold ; Steffann, Julie ; Dufier, Jean-Louis ; Kaplan, Josseline ; Bonnefont, Jean-Paul
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-12, Vol.22 (6), p.499-499
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49 Case Study: Cognitive Deficits Associated with Norrie Disease
Author / Creator:LeRoy, Amy ; Indorewalla, Khushnoo K ; Phenis, Richard ; Ku, Joyce Yi Hsuan
Publisher:New York, USA: Cambridge University Press
Journal title:Journal of the International Neuropsychological Society, 2023-11, Vol.29 (s1), p.655-656
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Norrie disease protein is essential for cochlear hair cell maturation
Author / Creator:Hayashi, Yushi ; Chiang, Hao ; Tian, ChunJie ; Indzhykulian, Artur A. ; Edge, Albert S. B.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-09, Vol.118 (39), p.1-12
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Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease
Author / Creator:Pauzuolyte, Valda ; Patel, Aara ; Wawrzynski, James R ; Ingham, Neil J ; Leong, Yeh Chwan ; Karda, Rajvinder ; Bitner‐Glindzicz, Maria ; Berger, Wolfgang ; Waddington, Simon N ; Steel, Karen P ; Sowden, Jane C
Publisher:Frankfurt: EMBO Press
Journal title:EMBO molecular medicine, 2023-10, Vol.15 (10), p.e17393-e17393
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Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives
Author / Creator:Li, Qing ; Mao, Yan ; Li, Shaoying ; Du, Hongzi ; He, Wenzhi ; He, Jianchun ; Kong, Lingyin ; Zhang, Jun ; Liang, Bo ; Liu, Jianqiao
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2020-08, Vol.13 (1), p.117-117, Article 117
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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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Showing 1 to 20 of 49 results

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Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree

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A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease

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Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

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A Novel Pathogenic Variant in NDP Gene With Incomplete Penetrance Manifests as X-Linked Familial Exudative Vitreoretinopathy

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Discovery and population genomics of structural variation in a songbird genus

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NDP gene mutations in 14 French families with Norrie disease

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49 Case Study: Cognitive Deficits Associated with Norrie Disease

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Norrie disease protein is essential for cochlear hair cell maturation

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Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

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Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives

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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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