Works matching DE "GENETICS of blindness"

Results: 157

A distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of Iran.

Published in:

Eastern Mediterranean Health Journal, 2012, v. 18, n. 1, p. 24, doi. 10.26719/2012.18.1.24

By:

Khakshoor, H.;
Daneshvar, R.;
Banaee, T.;
Tabatabaee Yazdi, S. A.;
Hasanzadeh Nazarabadi, M.;
Moosavi, M.;
Tavassoli, F.;
Mahdavi, R.

Publication type:

Article

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.

Published in:

Osteoporosis International, 2024, v. 35, n. 8, p. 1395, doi. 10.1007/s00198-024-07080-x

By:

Ren, Na;
Lv, Shanshan;
Li, Xiang;
Shao, Chong;
Wang, Ziyuan;
Mei, Yazhao;
Yang, Wendi;
Fu, Wenzhen;
Hu, Yunqiu;
Sha, Ling;
Hu, Weiwei;
Zhang, Zhenlin;
Wang, Chun

Publication type:

Article

Articles Highlighted.

Published in:

Chemical Senses, 2013, v. 38, n. 6, p. 457, doi. 10.1093/chemse/bjt034

By:

Meyerhof, Wolfgang

Publication type:

Article

Reduced Taste Sensitivity in Congenital Blindness.

Published in:

Chemical Senses, 2013, v. 38, n. 6, p. 509, doi. 10.1093/chemse/bjt021

By:

Gagnon, Lea;
Kupers, Ron;
Ptito, Maurice

Publication type:

Article

Screening for CRX gene mutations in Chinese patients with Lebercongenital amaurosis and mutational phenotype.

Published in:

Ophthalmic Genetics, 2001, v. 22, n. 2, p. 89, doi. 10.1076/opge.22.2.89.2227

By:

Zhang, Qingjiong;
Li, Shiqiang;
Guo, Xiangming;
Guo, Li;
Xiao, Xueshan;
Jia, Xiaoyun;
Kuang, Zhihe

Publication type:

Article

Mutational analysis and clinical correlation in Leber congenitalamaurosis.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 3, p. 135, doi. 10.1076/1381-6810(200009)21:3;1-Z;FT135

By:

Dharmaraj, Sharola;
Silva, Eduardo;
Pina, Ana Luisa;
Li, Ying Ying;
Yang, Jun-Ming;
Carter, Colin R.;
Loyer, Magali;
El-Hilali, Hala;
Traboulsi, Elias;
Sundin, Olof;
Zhu, Danping;
Koenekoop, Robert K.;
Maumenee, Irene H.

Publication type:

Article

Current digests.

Published in:

2000

By:

Drack, Arlene V.

Publication type:

Abstract

Congenital Color Blindness in Young Turkish Men.

Published in:

Ophthalmic Epidemiology, 2005, v. 12, n. 2, p. 133, doi. 10.1080/09286580590932743

By:

Citirik, Mehmet;
Acaroglu, Golge;
Batman, Cosar;
Zilelioglu, Orhan

Publication type:

Article

DIGEST.

Published in:: Adapted Physical Activity Quarterly, 1985, v. 2, n. 1, p. 83, doi. 10.1123/apaq.2.1.83
Publication type:: Article

Spectrum of retGC1 mutations in Leber's congenital amaurosis.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 8, p. 578, doi. 10.1038/sj.ejhg.5200503

By:

Perrault, Isabelle;
Rozet, Jean-Michel;
Gerber, Sylvie;
Ghazi, Imad;
Ducroq, Dominique;
Souied, Eric;
Leowski, Corinne;
Bonnemaison, Michèle;
Dufier, Jean-Louis;
Munnich, Arnold;
Kaplan, Josseline

Publication type:

Article

Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 5, p. 574, doi. 10.1038/sj.ejhg.5200332

By:

Rozzo, Carla;
Fossarello, Maurizio;
Galleri, Grazia;
Miano, Maria Giuseppina;
Ciccodicola, Alfredo;
Sole, Gabriella;
Pirastu, Mario

Publication type:

Article

Depression and anxiety levels and self-concept characteristics of adolescents with congenital complete visual impairment.

Published in:

Turk Psikiyatri Dergisi, 2011, v. 22, n. 2, p. 1

By:

BOLAT, Nurullah;
DOĞANGÜN, Burak;
YAVUZ, Mesut;
DEMİR, Türkay;
KAYAALP, Levent

Publication type:

Article

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

Published in:

Nature Genetics, 2007, v. 39, n. 7, p. 889, doi. 10.1038/ng2066

By:

den Hollander, Anneke I.;
Koenekoop, Robert K.;
Mohamed, Moin D.;
Arts, Heleen H.;
Boldt, Karsten;
Towns, Katherine V.;
Sedmak, Tina;
Beer, Monika;
Nagel-Wolfrum, Kerstin;
McKibbin, Martin;
Dharmaraj, Sharola;
Lopez, Irma;
Ivings, Lenka;
Williams, Grange A.;
Springell, Kelly;
Woods, C. Geoff;
Jafri, Hussain;
Rashid, Yasmin;
Strom, Tim M.;
van der Zwaag, Bert

Publication type:

Article

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Published in:

Nature Genetics, 2006, v. 38, n. 7, p. 755, doi. 10.1038/ng1824

By:

Vithana, Eranga N.;
Morgan, Patricio;
Sundaresan, Periasamy;
Ebenezer, Neil D.;
Tan, Donald T. H.;
Mohamed, Moin D.;
Anand, Seema;
Khine, Khin O.;
Venkataraman, Divya;
Yong, Victor H. K.;
Salto-Tellez, Manuel;
Venkatraman, Anandalakshmi;
Ke Guo;
Hemadevi, Boomiraj;
Srinivasan, Muthiah;
Prajna, Venkatesh;
Khine, Myint;
Casey, Joseph R.;
Inglehearn, Chris F.;
Tin Aung

Publication type:

Article

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 319, doi. 10.1038/81619

By:

Bech-Hansen, N.Torben;
Naylor, Margaret J.;
Maybaum, Tracy A.;
Sparkes, Rebecca L.;
Koop, Ben;
Birch, David G.;
Bergen, Arthur A.B.;
Prinsen, Clemens F.M.;
Polomeno, Robert C.;
Gal, Andreas;
Drack, Arlene V.;
Musarella, Maria A.;
Jacobson, Samuel G.;
Young, Rockefeller S.L.;
Weleber, Richard G.

Publication type:

Article

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 324, doi. 10.1038/81627

By:

Pusch, Carsten M.;
Zeitz, Christina;
Brandau, Oliver;
Pesch, Katrin;
Achatz, Helene;
Feil, Silke;
Scharfe, Curt;
Maurer, Johannes;
Jacobi, Felix K.;
Pinckers, Alfred;
Andreasson, Sten;
Hardcastle, Alison;
Wissinger, Bernd;
Berger, Wolfgang;
Meindl, Alfons

Publication type:

Article

Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

Published in:

Nature Genetics, 2000, v. 24, n. 1, p. 79, doi. 10.1038/71732

By:

Sohocki, Melanie M.;
Bowne, Sara J.;
Sullivan, Lori S.;
Blackshaw, Seth;
Cepko, Constance L.;
Payne, Annette M.;
Bhattacharya, Shomi S.;
Khaliq, Shagufta;
Qasim Mehdi, S.;
Birch, David G.;
Harrison, Wilbur R.;
Elder, Frederick F.B.;
Heckenlively, John R.;
Daiger, Stephen P.

Publication type:

Article

Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

Published in:

Nature Genetics, 1998, v. 19, n. 3, p. 264, doi. 10.1038/947

By:

Bech-Hansen, N. Torben;
Naylor, Margaret J.;
Maybaum, Tracy A.;
Pearce, William G.;
Koop, Ben;
Fishman, Gerald A.;
Mets, Marilyn;
Musarella, Maria A.;
Boycott, Kym M.

Publication type:

Article

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Published in:

Nature Genetics, 1998, v. 19, n. 3, p. 260, doi. 10.1038/940

By:

Strom, Tim M.;
Nyakatura, Gerald;
Apfelstedt-Sylla, Eckart;
Hellebrand, Heide;
Lorenz, Birgit;
Weber, Bernhard H. F.;
Wutz, Krisztina;
Gutwillinger, Nadja;
Rüther, Klaus;
Drescher, Bernd;
Sauer, Christian;
Zrenner, Eberhart;
Meitinger, Thomas;
Rosenthal, Andre;
Meindl, Alfons

Publication type:

Article

Multisystemic Increment of Cortical Thickness in Congenital Blind Children.

Published in:

Cerebral Cortex Communications, 2020, v. 1, n. 1, p. 1, doi. 10.1093/texcom/tgaa071

By:

Inuggi, Alberto;
Pichiecchio, Anna;
Ciacchini, Benedetta;
Signorini, Sabrina;
Morelli, Federica;
Gori, Monica

Publication type:

Article

The effect of congenital blindness on resting-state functional connectivity revisited.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-91976-9

By:

Guerreiro, Maria J. S.;
Linke, Madita;
Lingareddy, Sunitha;
Kekunnaya, Ramesh;
Röder, Brigitte

Publication type:

Article

It’s Habit-Forming.

Published in:

Braille Monitor, 2020, v. 63, n. 6, p. 418

By:

Sanders, Judy

Publication type:

Article

Macular dystrophy in a young male with corneal dystrophy among sisters.

Published in:

2011

By:

Zachariah, George;
Idiculla, Thara;
Keshav, B. R.;
Nasser, Mahmood

Publication type:

Case Study

Gene therapy in glaucoma-part 2: Genetic etiology and gene mapping.

Published in:

Oman Journal of Ophthalmology, 2010, v. 3, n. 2, p. 51, doi. 10.4103/0974-620X.64227

By:

Abdel-Monem Soliman Mahdy, Mohamed

Publication type:

Article

Superior Orthonasal but Not Retronasal Olfactory Skills in Congenital Blindness.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0122567

By:

Gagnon, Lea;
Ismaili, Abd Rahman Alaoui;
Ptito, Maurice;
Kupers, Ron

Publication type:

Article

Grasping without Sight: Insights from the Congenitally Blind.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110175

By:

Stone, Kayla D.;
Gonzalez, Claudia L. R.

Publication type:

Article

Morphometric Changes of the Corpus Callosum in Congenital Blindness.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107871

By:

Tomaiuolo, Francesco;
Campana, Serena;
Collins, D. Louis;
Fonov, Vladimir S.;
Ricciardi, Emiliano;
Sartori, Giuseppe;
Pietrini, Pietro;
Kupers, Ron;
Ptito, Maurice

Publication type:

Article

Multivoxel Pattern Analysis Reveals Auditory Motion Information in MT+ of Both Congenitally Blind and Sighted Individuals.

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0063198

By:

Strnad, Lukas;
Peelen, Marius V.;
Bedny, Marina;
Caramazza, Alfonso

Publication type:

Article

Differential Proteomics and Functional Research following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0044855

By:

Qinxiang Zheng;
Yueping Ren;
Tzekov, Radouil;
Yuanping Zhang;
Bo Chen;
Jiangping Hou;
Chunhui Zhao;
Jiali Zhu;
Ying Zhang;
Xufeng Dai;
Shan Ma;
Jia Li;
Jijing Pang;
Jia Qu;
Wensheng Li;
Ohlmann, Andreas

Publication type:

Article

Lexical References to Sensory Modalities in Verbal Descriptions of People and Objects by Congenitally Blind, Late Blind and Sighted Adults.

Published in:

PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0044020

By:

Hatwell, Yvette;
Verine, Bertrand;
Kaminski, Gwenael;
Gentaz, Edouard;
Chauvey, Val&eacuterie;
Sirigu, Angela

Publication type:

Article

'Visual' Acuity of the Congenitally Blind Using Visual-to-Auditory Sensory Substitution.

Published in:

PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033136

By:

Striem-Amit, Ella;
Guendelman, Miriam;
Amedi, Amir

Publication type:

Article

CFH, C3 and ARMS2 Are Significant Risk Loci for Susceptibility but Not for Disease Progression of Geographic Atrophy Due to AMD.

Published in:

PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007418

By:

Scholl, Hendrik P. N.;
Fleckenstein, Monika;
Fritsche, Lars G.;
Schmitz-Valckenberg, Steffen;
Göbel, Arno;
Adrion, Christine;
Herold, Christine;
Keilhauer, Claudia N.;
Mackensen, Friederike;
Mößner, Andreas;
Pauleikhoff, Daniel;
Weinberger, Andreas W. A.;
Mansmann, Ulrich;
Holz, Frank G.;
Becker, Tim;
Weber, Bernhard H. F.

Publication type:

Article

Microsaccade Rate Varies with Subjective Visibility during Motion-Induced Blindness.

Published in:

PLoS ONE, 2009, v. 4, n. 4, p. 1, doi. 10.1371/journal.pone.0005163

By:

Po-Jang Hsieh;
Tse1, Peter U.

Publication type:

Article

Brain Plasticity in Blind Subjects Centralizes Beyond the Modal Cortices.

Published in:

Frontiers in Systems Neuroscience, 2016, p. 1, doi. 10.3389/fnsys.2016.00061

By:

Pascual-Leone, Alvaro;
Ortiz-Terán, Laura;
Guclu, Burak;
Bibikov, Nikolay;
Sepulcre, Jorge;
Diez, Ibai;
Ortiz, Tomás;
Perez, David L.;
Aragón, Jose Ignacio

Publication type:

Article

Functional and structural changes throughout the auditory system following congenital and early-onset deafness: implications for hearing restoration.

Published in:

Frontiers in Systems Neuroscience, 2013, v. 7, p. 1, doi. 10.3389/fnsys.2013.00092

By:

Butler, Blake E.;
Lomber, Stephen G.

Publication type:

Article

Brain mapping in a patient with congenital blindness - a case for multimodal approaches.

Published in:

Frontiers in Human Neuroscience, 2013, v. 7, p. 1, doi. 10.3389/fnhum.2013.00431

By:

Roland, Jarod L.;
Hacker, Carl D.;
Breshears, Jonathan D.;
Gaona, Charles M.;
Hogan, R. Edward;
Burton, Harold;
Corbetta, Maurizio;
Leuthardt, Eric C.

Publication type:

Article

Enhanced Chemosensory Detection of Negative Emotions in Congenital Blindness.

Published in:

Neural Plasticity, 2015, v. 2015, p. 1, doi. 10.1155/2015/469750

By:

Iversen, Katrine D.;
Ptito, Maurice;
Møller, Per;
Kupers, Ron

Publication type:

Article

Crossmodal Recruitment of the Ventral Visual Stream in Congenital Blindness.

Published in:

Neural Plasticity, 2012, v. 2012, p. 1, doi. 10.1155/2012/304045

By:

Ptito, Maurice;
Matteau, Isabelle;
Wang, Arthur Zhi;
Paulson, Olaf B.;
Siebner, Hartwig R.;
Kupers, Ron

Publication type:

Article

Investigations continue into cases of congenital blindness in Scottish calves.

Published in:: Veterinary Record: Journal of the British Veterinary Association, 2005, v. 157, n. 13, p. 365, doi. 10.1136/vr.157.13.365
Publication type:: Article

A peptide of Chlamydia trachomatis shown to be a primary T-cell epitope in vitro induces cell-mediated immunity in vivo.

Published in:

Immunology, 1995, v. 85, n. 1, p. 8

By:

Knight, S. C.;
Iqball, S.;
Woods, C.;
Stagg, A.;
Wards, M. E.;
Tuffrey, M.

Publication type:

Article

Leber's congenital amaurosis: is there an autistic component?

Published in:

Developmental Medicine & Child Neurology, 2007, v. 49, n. 7, p. 503, doi. 10.1111/j.1469-8749.2007.00503.x

By:

Fazzi, E.;
Rossi, M.;
Signorini, S.;
Rossi, G.;
Bianchi, P. E.;
Lanzi, G.

Publication type:

Article

New study challenges "critical period".

Published in:: Science Scope, 2007, v. 30, n. 6, p. 8
Publication type:: Article

Chickens and blindness.

Published in:: Science Scope, 2006, v. 29, n. 8, p. 8
Publication type:: Article

REPRESENTATION OF HAPTIC OBJECTS DURING MENTAL ROTATION IN CONGENITAL BLINDNESS.

Published in:

Perceptual & Motor Skills, 2014, v. 118, n. 2, p. 587, doi. 10.2466/15.22.PMS.118k20w0

By:

GÜÇLÜ, BURAK;
ÇELİK, SERKAN;
ILCİ, CİVAN

Publication type:

Article

Bilateral congenital hamartomas of the retinal pigment epithelium in a patient with Down's syndrome.

Published in:

2008

By:

Panagopoulos, A.;
Chalioulias, K.;
Murray, A. T.

Publication type:

Letter

Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.

Published in:

Journal of Human Genetics, 2003, v. 48, n. 7, p. 385

By:

Nishioka, Tomoki;
Tasaki, Mamoru;
Soemantri, Augustinus;
Dyat, Marbaniati;
Susanto, J. C.;
Tamam, Moedrik;
Sudarmanto, Bambang;
Ishida, Takafumi

Publication type:

Article

Dacryoendoscopic Findings of Lacrimal Passage with Congenital Punctal Atresia.

Published in:

Orbit, 2013, v. 32, n. 5, p. 338, doi. 10.3109/01676830.2013.815228

By:

Takahashi, Yasuhiro;
Matsuda, Hiromichi;
Nakamura, Yasuhisa;
Kakizaki, Hirohiko

Publication type:

Article

Leber Congenital Amaurosis: From Darkness to Spotlight.

Published in:

Ophthalmic Genetics, 2008, v. 29, n. 3, p. 92, doi. 10.1080/13816810802232768

By:

Kaplan, Josseline

Publication type:

Article

Successful RPE65 Gene Replacement and Improved Visual Function in Humans.

Published in:

Ophthalmic Genetics, 2008, v. 29, n. 3, p. 89, doi. 10.1080/13816810802216480

By:

Koenekoop, Robert K.

Publication type:

Article

Progressive autosomal dominant optic atrophy and sensorineural hearingloss in a Turkish family.

Published in:

Ophthalmic Genetics, 2002, v. 23, n. 1, p. 029, doi. 10.1076/opge.23.1.29.2208

By:

Özden, Serap;
Düzcan, Füsun;
Wollnik, Bernd;
Çetin, Ozan G.;
Şahiner, Türker;
Bayramoğlu, İsmet;
Yüksel-Apak, Memnune;
Bağcı, Hüseyin

Publication type:

Article