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Select item 107676831.

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

Keke Jiang, Shuying Wang, Huixin Sun, Chuanzhi Peng, Nan Li, Shuchan Li, Rongyu Gao, Jie Zhang

Mol Genet Genomic Med. 2024 Jan; 12(1): e2345. Published online 2023 Dec 26. doi: 10.1002/mgg3.2345

PMCID:: PMC10767683

Abstract Article PDF–2.6M

Select item 106473672.

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome

Vincent Le, Gabrielle Abdelmessih, Wendy A. Dailey, Cecille Pinnock, Victoria Jobczyk, Revati Rashingkar, Kimberly A. Drenser, Kenneth P. Mitton

Cells. 2023 Nov; 12(21): 2579. Published online 2023 Nov 5. doi: 10.3390/cells12212579

PMCID:: PMC10647367

Abstract Article PDF–4.1M

Select item 105656403.

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

Valda Pauzuolyte, Aara Patel, James R Wawrzynski, Neil J Ingham, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner‐Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel, Jane C Sowden

EMBO Mol Med. 2023 Oct; 15(10): e17393. Published online 2023 Aug 29. doi: 10.15252/emmm.202317393

PMCID:: PMC10565640

Abstract Article PDF–5.5M

Select item 98717374.

Xp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome

Mahsaw Mansoor, Razek Georges Coussa, Margaret R. Strampe, Scott A. Larson, Jonathan F. Russell

Am J Ophthalmol Case Rep. 2023 Mar; 29: 101798. Published online 2023 Jan 19. doi: 10.1016/j.ajoc.2023.101798

PMCID:: PMC9871737

Abstract Article PDF–3.5M

Select item 94120005.

Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation

Haijun Li, Zhiming Li, Degang Wang, Chuanming Chen, Zhiqiang Chen, Jinhua Wang, Chenxia Xu, Xingsheng Dong

Front Genet. 2022; 13: 870232. Published online 2022 Aug 12. doi: 10.3389/fgene.2022.870232

PMCID:: PMC9412000

Abstract Article PDF–1.8M

Select item 90622966.

Endolymphatic Hydrop Phenotype in Familial Norrie Disease Caused by Large Fragment Deletion of NDP

Yuerong Gong, Zhang Liu, Xiaolin Zhang, Shuang Shen, Qijun Xu, Hongchun Zhao, Jing Shang, Weiguo Li, Yanfei Wang, Jun Chen, Xiuzhen Liu, Qing Yin Zheng

Front Aging Neurosci. 2022; 14: 771328. Published online 2022 Apr 18. doi: 10.3389/fnagi.2022.771328

PMCID:: PMC9062296

Abstract Article PDF–7.1M

Select item 88558027.

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

Dale Bryant, Valda Pauzuolyte, Neil J. Ingham, Aara Patel, Waheeda Pagarkar, Lucy A. Anderson, Katie E. Smith, Dale A. Moulding, Yeh C. Leong, Daniyal J. Jafree, David A. Long, Amina Al-Yassin, Karen P. Steel, Daniel J. Jagger, Andrew Forge, Wolfgang Berger, Jane C. Sowden, Maria Bitner-Glindzicz

JCI Insight. 2022 Feb 8; 7(3): e148586. Published online 2022 Feb 8. doi: 10.1172/jci.insight.148586

PMCID:: PMC8855802

Abstract Article PDF–20M

Select item 87358018.

A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report

He Wang, Zeyuan Liu, Yuantao Zhou, Yuanyuan Ma, Dan Tao

Medicine (Baltimore) 2022 Jan 7; 101(1): e28523. Published online 2022 Jan 7. doi: 10.1097/MD.0000000000028523

PMCID:: PMC8735801

Abstract Article PDF–640K

Select item 84886809.

Norrie disease protein is essential for cochlear hair cell maturation

Yushi Hayashi, Hao Chiang, ChunJie Tian, Artur A. Indzhykulian, Albert S. B. Edge

Proc Natl Acad Sci U S A. 2021 Sep 28; 118(39): e2106369118. Published online 2021 Sep 20. doi: 10.1073/pnas.2106369118

PMCID:: PMC8488680

Abstract Article PDF–3.2M

Select item 822034110.

Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene

Yujia Zhou, Michael J. Shapiro, Barbara K. Burton, Marilyn B. Mets, Sudhi P. Kurup

Am J Ophthalmol Case Rep. 2021 Sep; 23: 101151. Published online 2021 Jun 17. doi: 10.1016/j.ajoc.2021.101151

PMCID:: PMC8220341

Abstract Article PDF–2.5M

Select item 815763111.

Retinoschisis and Norrie disease: a missing link

Rahini Rajendran, Dhandayuthapani Sudha, Subbulakshmi Chidambaram, Hemavathy Nagarajan, Umashankar Vetrivel, Jayamuruga Pandian Arunachalam

BMC Res Notes. 2021; 14: 204. Published online 2021 May 26. doi: 10.1186/s13104-021-05617-5

PMCID:: PMC8157631

Abstract Article PDF–1.2M

Select item 788558612.

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

Li-Yun Jia, Kai Ma

BMC Ophthalmol. 2021; 21: 84. Published online 2021 Feb 15. doi: 10.1186/s12886-021-01852-3

PMCID:: PMC7885586

Abstract Article PDF–875K

Select item 767094213.

Impact of sight and hearing loss in patients with Norrie disease: advantages of Dual Sensory clinics in patient care

Jane C Sowden, Corné J Kros, Tony Sirimanna, Waheeda Pagarkar, Ngozi Oluonye, Robert H Henderson

BMJ Paediatr Open. 2020; 4(1): e000781. Published online 2020 Nov 16. doi: 10.1136/bmjpo-2020-000781

PMCID:: PMC7670942

Abstract Article PDF–3.1M

Select item 757978514.

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

Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko

BMC Med Genet. 2020; 21(Suppl 1): 156. Published online 2020 Oct 22. doi: 10.1186/s12881-020-01093-z

PMCID:: PMC7579785

Abstract Article PDF–744K

Select item 718340315.

Novel Pathogenic Variant in the Cys110 Residue: A Genotype–Phenotype Report of a Patient with Norrie Disease

Jaspreet Garcha, Angita Jain, Herjot Atwal, Pavalan Sevlam, Paldeep S. Atwal

J Pediatr Genet. 2020 Jun; 9(2): 142–144. Published online 2019 Oct 21. doi: 10.1055/s-0039-1700535

PMCID:: PMC7183403

Abstract Article PDF–90K

Select item 672593116.

Ectopic Norrin Induces Growth of Ocular Capillaries and Restores Normal Retinal Angiogenesis in Norrie Disease Mutant Mice

Andreas Ohlmann, Michael Scholz, Andreas Goldwich, Bharesh K. Chauhan, Kristiane Hudl, Anne V. Ohlmann, Eberhart Zrenner, Wolfgang Berger, Aleš Cvekl, Mathias W. Seeliger, Ernst R. Tamm

J Neurosci. 2005 Feb 16; 25(7): 1701–1710. doi: 10.1523/JNEUROSCI.4756-04.2005