Works matching Norrie disease

Results: 140

The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease.

Published in:

Clinical Chemistry & Laboratory Medicine, 2018, v. 56, n. 2, p. 229, doi. 10.1515/cclm-2017-0226

By:

Rodríguez-Muñoz, Ana;
García-García, Gema;
Menor, Francisco;
Millán, José M.;
Tomás-Vila, Miguel;
Jaijo, Teresa

Publication type:

Article

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

Published in:

Journal of Neuroscience, 2005, v. 25, n. 7, p. 1701, doi. 10.1523/JNEUROSCI.4756-04.2005

By:

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

Publication type:

Article

Familial cases of Norrie disease detected by copy number analysis.

Published in:

Japanese Journal of Ophthalmology, 2014, v. 58, n. 5, p. 448, doi. 10.1007/s10384-014-0334-4

By:

Arai, Eisuke;
Fujimaki, Takuro;
Yanagawa, Ai;
Fujiki, Keiko;
Yokoyama, Toshiyuki;
Okumura, Akihisa;
Shimizu, Toshiaki;
Murakami, Akira

Publication type:

Article

Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family.

Published in:

2018

By:

Talebi, Farah;
Mardasi, Farideh Ghanbari;
Mohammadi, Javad;
Lashgari, Ali;
Farhadi, Freidoon

Publication type:

Case Study

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

Published in:

Journal of Genetics, 2017, v. 96, n. 6, p. 1015, doi. 10.1007/s12041-017-0869-5

By:

BEI JIA;
LIPING HUANG;
YAOYU CHEN;
SIPING LIU;
CUIHUA CHEN;
KE XIONG;
LANLIN SONG;
YULAI ZHOU;
XINPING YANG;
MEI ZHONG

Publication type:

Article

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

Published in:

Audiology & Neurotology, 2014, v. 19, n. 3, p. 203, doi. 10.1159/000358866

By:

Parzefall, Thomas;
Lucas, Trevor;
Ritter, Markus;
Ludwig, Martin;
Ramsebner, Reinhard;
Frohne, Alexandra;
Schöfer, Christian;
Hengstschläger, Markus;
Frei, Klemens

Publication type:

Article

Screening for NDP Mutations in 44 Unrelated Patients with Familial Exudative Vitreoretinopathy or Norrie Disease.

Published in:

Current Eye Research, 2012, v. 37, n. 8, p. 726, doi. 10.3109/02713683.2012.675615

By:

Yang, Huiqin;
Li, Shiqiang;
Xiao, Xueshan;
Guo, Xiangming;
Zhang, Qingjiong

Publication type:

Article

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.

Published in:

Clinical & Experimental Ophthalmology, 2006, v. 34, n. 7, p. 682, doi. 10.1111/j.1442-9071.2006.01314.x

By:

Dickinson, Joanne L.;
Sale, Michèle M.;
Passmore, Abraham;
FitzGerald, Liesel M.;
Wheatley, Catherine M.;
Burdon, Kathryn P.;
Craig, Jamie E.;
Tengtrisorn, Supaporn;
Carden, Susan M.;
Maclean, Hector;
Mackey, David A.

Publication type:

Article

Audiologic Features of Norrie Disease.

Published in:

Annals of Otology, Rhinology & Laryngology, 2005, v. 114, n. 7, p. 533, doi. 10.1177/000348940511400707

By:

Halpin, Chris;
Owen, Grace;
Gutiérrez-Espeleta, Gustavo A.;
Sims, Katherine;
Rehm, Heidi L.

Publication type:

Article

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.503

By:

Liu, Jingjing;
Zhu, Jing;
Yang, Jiyun;
Zhang, Xiang;
Zhang, Qi;
Zhao, Peiquan

Publication type:

Article

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

Published in:

Clinical & Experimental Ophthalmology, 2010, v. 38, n. 4, p. 367, doi. 10.1111/j.1442-9071.2010.02245.x

By:

Pelcastre, Erika L.;
Villanueva-Mendoza, Cristina;
Zenteno, Juan C.

Publication type:

Article

A C597→A Polymorphism in the Norrie Disease Gene Is Associated with Advanced Retinopathy of Prematurity in Premature Kuwaiti Infants.

Published in:

Journal of Biomedical Science, 2002, v. 9, n. 4, p. 365, doi. 10.1159/000065008

By:

Haider, M. Z.;
Devarajan, L. V.;
Al-Essa, M.;
Kumar, H.

Publication type:

Article

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.

Published in:

2011

By:

Chamney, S;
McLoone, E;
Willoughby, C E

Publication type:

Letter

Isolated Norrie disease in a female caused by a balanced translocationt(X,6).

Published in:

Ophthalmic Genetics, 1998, v. 19, n. 4, p. 203, doi. 10.1076/opge.19.4.203.2306

By:

Meire, F.M.;
Lafaut, B.A.;
Speleman, F.;
Hanssens, M.

Publication type:

Article

Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease.

Published in:

PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178753

By:

Beck, Susanne C.;
Feng, Yuxi;
Sothilingam, Vithiyanjali;
Garcia Garrido, Marina;
Tanimoto, Naoyuki;
Acar, Niyazi;
Shan, Shenliang;
Seebauer, Britta;
Berger, Wolfgang;
Hammes, Hans-Peter;
Seeliger, Mathias W.

Publication type:

Article

NDP gene mutations in 14 French families with Norrie disease(Communicated by Andreas Gal)Online Citation: Human Mutation, Mutation in Brief #675 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/675.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 499, doi. 10.1002/humu.9204

By:

Ghislaine Royer;
Sylvain Hanein;
Valérie Raclin;
Nadine Gigarel;
Jean-Michel Rozet;
Arnold Munnich;
Julie Steffann;
Jean-Louis Dufier

Publication type:

Article

A Novel Missense Norrie Disease Mutation Associated With a Severe Ocular Phenotype.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2004, v. 41, n. 6, p. 361, doi. 10.3928/01913913-20041101-10

By:

Khan, Arif O.;
Shamsi, Farrukh A.;
Al-Saif, Amr;
Kambouris, Marios

Publication type:

Article

Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity.

Published in:

Journal of Human Genetics, 2001, v. 46, n. 4, p. 178, doi. 10.1007/s100380170085

By:

Hiraoka, M.;
Berinstein, D. M.;
Trese, M. T.;
Shastry, B. S.

Publication type:

Article

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?

Published in:

Journal of Human Genetics, 2001, v. 46, n. 2, p. 53, doi. 10.1007/s100380170108

By:

Hiraoka, M.;
Rossi, F.;
Trese, M. T.;
Shastry, B. S.

Publication type:

Article

A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease.

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 6, p. e516, doi. 10.1111/aos.12904

By:

Fangting, Li;
Lvzhen, Huang;
Xiaoxin, Li

Publication type:

Article

Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages.

Published in:

Pediatrics International, 2001, v. 43, n. 2, p. 120, doi. 10.1046/j.1442-200x.2001.01361.x

By:

Haider, Mohammad Z.;
Devarajan, Lakshminaran V.;
Al-Essa, Mazen;
Srivastva, Braham S.;
Kumar, Harsh;
Azad, Rajvardhan;
Rashwan, Nabil

Publication type:

Article

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader–Willi syndrome and Moebius syndrome.

Published in:

Journal of Sleep Research, 1999, v. 8, p. 14, doi. 10.1046/j.1365-2869.1999.00004.x

By:

Parkes;
Parkes, J. David

Publication type:

Article

Intrafamilial variability of the ocular phenotype in a Polish familywith a missense mutation (A63D) in the Norrie disease gene.

Published in:

Ophthalmic Genetics, 1998, v. 19, n. 3, p. 157, doi. 10.1076/opge.19.3.157.2184

By:

Zaremba, Jacek;
Feil, Silke;
Juszko, Jadwiga;
Myga, Wieslawa;
van Duijnhoven, Gerard;
Berger, Wolfgang

Publication type:

Article

Refractory epilepsy in Norrie disease.

Published in:

2018

By:

Cação, Gonçalo;
Garrido, Cristina;
Miranda, Vasco;
Pinto-Basto, Jorge;
Chaves, João;
Chorão, Rui

Publication type:

Case Study

Inkontinensia Pigmenti ve Norrie Hastalığı: Patogenez, Tanı ve Tedavi.

Published in:

Current Retina Journal / Güncel Retina Dergisi, 2023, v. 7, n. 3, p. 188, doi. 10.37783/CRJ-0360

By:

EKİZOĞLU, Ahmet

Publication type:

Article

Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene.

Published in:

Neuroradiology Journal, 2015, v. 28, n. 6, p. 623, doi. 10.1177/1971400915609350

By:

Payabvash, Seyedmehdi;
Anderson, Jill S.;
Nascene, David R.

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.870232

By:

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

Publication type:

Article

Dendrobium nobile Lindley and its bibenzyl component moscatilin are able to protect retinal cells from ischemia/hypoxia by dowregulating placental growth factor and upregulating Norrie disease protein.

Published in:

BMC Complementary & Alternative Medicine, 2018, v. 18, n. 1, p. 1, doi. 10.1186/s12906-018-2256-z

By:

Wen-Haur Chao;
Ming-Yi Lai;
Hwai-Tzong Pan;
Huei-Wen Shiu;
Mi-Mi Chen;
Hsiao-Ming Chao

Publication type:

Article

Evaluation of the Norrie Disease Gene in a Family with Incontinentia pigmenti.

Published in:

Ophthalmic Research, 2000, v. 32, n. 4, p. 181, doi. 10.1159/000055610

By:

Shastry, Barkur S.;
Trese, Michael T.

Publication type:

Article

Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.

Published in:

2017

By:

Wu, Li Hong;
Chen, Li-Hong;
Xie, Hongning;
Xie, Ying-Jun

Publication type:

Case Study

Abnormal cochlear enhancement in Norrie disease.

Published in:

Neuroradiology Journal, 2025, v. 38, n. 4, p. 506, doi. 10.1177/19714009241303096

By:

Barkovich, Emil Jernstedt;
Ferraciolli, Suely Fazio;
Jaimes, Camilo

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01093-z

By:

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.

Publication type:

Article

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

Published in:

Cells (2073-4409), 2023, v. 12, n. 21, p. 2579, doi. 10.3390/cells12212579

By:

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

Publication type:

Article

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

Published in:

Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.771328

By:

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

Publication type:

Article

The Wnt Signaling Pathway in Familial Exudative Vitreoretinopathy and Norrie Disease.

Published in:

Seminars in Ophthalmology, 2007, v. 22, n. 4, p. 211, doi. 10.1080/08820530701745124

By:

Warden, Scott M.;
Andreoli, Christopher M.;
Mukai, Shizuo

Publication type:

Article

Retinoschisis and Norrie disease: a missing link.

Published in:

BMC Research Notes, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13104-021-05617-5

By:

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

Publication type:

Article

Can cytology differentiate Norrie's disease from Retinoblastoma?

Published in:

Acta Ophthalmologica (1755375X), 2010, v. 88, p. 0, doi. 10.1111/j.1755-3768.2010.2442.x

By:

TODOROVA, M;
BUBENDORF, L;
PRüNTE, CH;
FLAMMER, J;
MEYER, P

Publication type:

Article

49 Case Study: Cognitive Deficits Associated with Norrie Disease.

Published in:

2023

By:

LeRoy, Amy;
Indorewalla, Khushnoo K;
Phenis, Richard;
Ku, Joyce Yi Hsuan

Publication type:

Abstract

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 8, p. 1295

By:

Ravia, Yehoshua;
Braier-Goldstein, Orly;
Bat-Miriam, Katznelson Mariassa;
Erlich, Shai;
Barkai, Gad;
Goldman, Boleslaw

Publication type:

Article

Mutations in the candidate gene for Norrie disease.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 7, p. 461

By:

Berger, Wolfgang;
de Pol, Dorien van;
Warburg, Mette;
Gal, Andreas;
Bleeker-Wagemakers, Liesbeth;
de Silva, Harendra;
Meindl, Alfons;
Meitinger, Thomas;
Cremers, Frans;
Ropers, Hans-Hilger

Publication type:

Article

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 2, p. 83

By:

Sims, K.B.;
Lebo, R.V.;
Benson, G.;
Shalish, C.;
Schuback, D.;
Chen, Z.Y.;
Bruns, G.;
Craig, I.W.;
Golbus, M.S.;
Breakefield, X.O.

Publication type:

Article

Multiple Cranial Nerve Gadolinium Enhancement in Norrie Disease.

Published in:

Annals of Neurology, 2022, v. 91, n. 1, p. 158, doi. 10.1002/ana.26274

By:

Jokela, Manu;
Karhu, Jari;
Nurminen, Janne;
Martikainen, Mika H.

Publication type:

Article

Carrier detection and prenatal diagnosis in Norrie disease.

Published in:

Prenatal Diagnosis, 1989, v. 9, n. 10, p. 735, doi. 10.1002/pd.1970091009

By:

Curtis, Diana;
Blank, C. E.;
Parsons, M. A.;
Hughes, Howard N.

Publication type:

Article

Cerebroretinal Microangiopathy With Calcifications and Cysts Associated With CTC1 and NDP Mutations.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 12, p. 1702, doi. 10.1177/0883073812467849

By:

Romaniello, Romina;
Arrigoni, Filippo;
Citterio, Andrea;
Tonelli, Alessandra;
Sforzini, Cinzia;
Rizzari, Carmelo;
Pessina, Marco;
Triulzi, Fabio;
Bassi, Maria Teresa;
Borgatti, Renato

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2345

By:

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

Publication type:

Article

Hedgehog regulates Norrie disease protein to drive neural progenitor self-renewal.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 5, p. 1005, doi. 10.1093/hmg/dds505

By:

McNeill, Brian;
Mazerolle, Chantal;
Bassett, Erin A.;
Mears, Alan J.;
Ringuette, Randy;
Lagali, Pamela;
Picketts, David J.;
Paes, Kim;
Rice, Dennis;
Wallace, Valerie A.

Publication type:

Article

Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.

Published in:

Eye (0950-222X), 2006, v. 20, n. 2, p. 234, doi. 10.1038/sj.eye.6701840

By:

Allen, R. C.;
Russell, S. R.;
Streb, L. M.;
Alsheikheh, A.;
Stone, E. M.

Publication type:

Article

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome.

Published in:

Journal of Sleep Research, 1999, v. 8, p. 14, doi. 10.1046/j.1365-2869.1999.00004.x

By:

Parkes

Publication type:

Article

Genetic Evaluation to Establish the Diagnosis of X-Linked Familial Exudative Vitreoretinopathy

Published in:

Ophthalmic Genetics, 2006, v. 27, n. 3, p. 75, doi. 10.1080/13816810600862402

By:

Drenser, Kimberly A.;
Dailey, Wendy;
Capone, Antonio;
Trese, Michael T.

Publication type:

Article

An Animal Model for Norrie Disease (ND): Gene Targeting of the Mouse Nd Gene.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 1, p. 51, doi. 10.1093/hmg/5.1.51

By:

Berger, Wolfgang;
van de Pol, Dorien;
Bächner, Dietmar;
Oerlemans, Frank;
Winkens, Huub;
Hameister, Horst;
Wieringa, Bé;
Hendriks, Wiljan;
Ropers, Hans-Hilger

Publication type:

Article