Works matching DE "GENETICS of blindness"

Results: 158

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

Congenital Anophthalmia: A Circadian Rhythm Study.

Published in:

Chronobiology International: The Journal of Biological & Medical Rhythm Research, 2004, v. 21, n. 2, p. 315, doi. 10.1081/CBI-120037809

By:

Ardura, Julio;
Andres, Jesus;
Aragon, Maria P.;
Agapito, Teresa

Publication type:

Article

Reversible autism among congenitally blind children? A controlled follow-up study.

Published in:

Journal of Child Psychology & Psychiatry, 2010, v. 51, n. 11, p. 1235, doi. 10.1111/j.1469-7610.2010.02274.x

By:

Peter Hobson, R.;
Lee, Anthony

Publication type:

Article

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

Congenital Blindness and Autism.

Published in:

2011

By:

Peter Hobson, R.

Publication type:

Letter

Response to Hobson's Letter: Congenital Blindness and Autism.

Published in:

2011

By:

Brambring, Michael

Publication type:

Letter

Questionnaire screening for comorbid pervasive developmental disorders in congenitally blind children: A pilot study.

Published in:

Journal of Autism & Developmental Disorders, 1995, v. 25, n. 2, p. 195, doi. 10.1007/BF02178504

By:

Goodman, Rober;
Minne, Carine

Publication type:

Article

Comparison of Middle Latency Auditory Evoked Potential Results of Congenitally Blind, Partial Vision Deficiency to Normal Vision Aquity Subjects.

Published in:

Journal of International Advanced Otology, 2010, v. 6, n. 1, p. 83

By:

Madanoglu, Nevma;
Devrilmez, Hulya

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

Congenital blindness affects diencephalic but not mesencephalic structures in the human brain.

Published in:

Brain Structure & Function, 2016, v. 221, n. 3, p. 1465, doi. 10.1007/s00429-014-0984-5

By:

Cecchetti, Luca;
Ricciardi, Emiliano;
Handjaras, Giacomo;
Kupers, Ron;
Ptito, Maurice;
Pietrini, Pietro

Publication type:

Article

Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.

Published in:

QJM: An International Journal of Medicine, 2016, v. 109, n. 11, p. 731, doi. 10.1093/qjmed/hcw058

By:

Yuan, L.;
Yi, J.;
Lin, Q.;
Xu, H.;
Deng, X.;
Xiong, W.;
Xiao, J.;
Jiang, C.;
Yuan, X.;
Chen, Y.;
Deng, H.

Publication type:

Article

Sociocultural Pressures, Internalization, and Body Esteem in Congenitally Blind, Late-Blind, and Sighted Men and Women.

Published in:

Journal of Visual Impairment & Blindness, 2024, v. 118, n. 2, p. 73, doi. 10.1177/0145482X241235167

By:

Dell'Erba, Sara;
Scheller, Meike;
de Sousa, Alexandra A.;
Proulx, Michael J.

Publication type:

Article

The Relevance of Object Size to the Recognizability of Drawings by Individuals with Congenital Blindness.

Published in:

Journal of Visual Impairment & Blindness, 2019, v. 113, n. 3, p. 295, doi. 10.1177/0145482X19860015

By:

Szubielska, Magdalena;
Niestorowicz, Ewa;
Marek, Bogusław

Publication type:

Article

Interaction of Dual Sensory Loss, Cognitive Function, and Communication in People Who Are Congenitally Deaf-Blind.

Published in:

Journal of Visual Impairment & Blindness, 2010, v. 104, n. 11, p. 719, doi. 10.1177/0145482X1010401108

By:

Dammeyer, Jesper

Publication type:

Article

The Role of Sound in Encouraging Infants with Congenital Blindness to Reach for Objects.

Published in:

Journal of Visual Impairment & Blindness, 2010, v. 104, n. 8, p. 478, doi. 10.1177/0145482X1010400804

By:

Ihsen, Elfriede;
Troester, Heinrich;
Brambring, Michael

Publication type:

Article

Tactile Functioning in Children Who Are Blind: A Clinical Perspective.

Published in:

Journal of Visual Impairment & Blindness, 2010, v. 104, n. 1, p. 43, doi. 10.1177/0145482X1010400108

By:

Withagen, Ans;
Vervloed, Mathijs P. J.;
Janssen, Neeltje M.;
Knoors, Harry;
Verhoeven, Ludo

Publication type:

Article

Research highlights.

Published in:: 2006
Publication type:: Excerpt

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

Transposition Ability in a Young Musician With Autism and Blindness: Testing Cognitive Models of Autism.

Published in:

Psychomusicology: Music, Mind & Brain, 2013, v. 23, n. 2, p. 109, doi. 10.1037/a0033760

By:

Boso, Marianna;
Bordin, Annamaria;
D'Angelo, Egidio;
Politi, Pierluigi;
Forth, Jamie;
Faggioli, Raffaella;
Barale, Francesco;
Heaton, Pamela

Publication type:

Article

Listening in the Dark: Congenital and Early Blindness and Cross-Domain Mappings in Music.

Published in:

Psychomusicology: Music, Mind & Brain, 2012, v. 22, n. 1, p. 33, doi. 10.1037/a0028939

By:

Eitan, Zohar;
Ornoy, Eitan;
Granot, Roni Y.

Publication type:

Article

Correction of Pathological Morphofunctional Changes in the Mammalian Retina.

Published in:

Neurophysiology, 2015, v. 47, n. 5, p. 408, doi. 10.1007/s11062-016-9549-y

By:

Purnyn, H.

Publication type:

Article

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

NEURO-LINGUISTIC PROGRAMMING: ENHANCING LEARNING FOR THE VISUALLY IMPAIRED

Published in:

Education, 2000, v. 120, n. 4, p. 790

By:

HELM, DAVID JAY

Publication type:

Article

Visuo-spatial Imagery in Congenitally Totally Blind People.

Published in:

Memory, 1998, v. 6, n. 1, p. 91, doi. 10.1080/741941601

By:

Vecchi, Tomaso

Publication type:

Article

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1266, doi. 10.1038/ejhg.2013.23

By:

Jonsson, Frida;
Burstedt, Marie S;
Sandgren, Ola;
Norberg, Anna;
Golovleva, Irina

Publication type:

Article

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1289, doi. 10.1038/ejhg.2011.130

By:

Berry, Vanita;
Ionides, Alexander C W;
Moore, Anthony T;
Bhattacharya, Shomi S

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

Two Sisters with Congenital Blindness caused by Osteoporosis-pseudoglioma Syndrome due to new Mutations in the LPR5 Gene.

Published in:

2015

By:

Welinder, L.;
Robitaille, J.M.;
Boerkoel, C.F.;
Rupps, R.;
Lyons, C.

Publication type:

Abstract

Two Sisters with Congenital Blindness caused by Osteoporosis-pseudoglioma Syndrome due to new Mutations in the LPR5 Gene.

Published in:

2015

By:

Welinder, L.;
Robitaille, J.M.;
Boerkoel, C.F.;
Rupps, R.;
Lyons, C.

Publication type:

Abstract

Visual experience is not necessary for efficient survey spatial cognition: Evidence from blindness.

Published in:

Quarterly Journal of Experimental Psychology, 2006, v. 59, n. 7, p. 1306, doi. 10.1080/17470210500214275

By:

Tinti, Carla;
Adenzato, Mauro;
Tamietto, Marco;
Cornoldi, Cesare

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

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

Loss-of-function mutations in a calcium-channel α<sub>1</sub>-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

Enhancing activity by means of tactile symbols: A study of a heterogeneous group of pupils with congenital blindness, intellectual disability and autism spectrum disorder.

Published in:

Journal of Intellectual Disabilities, 2014, v. 18, n. 1, p. 61, doi. 10.1177/1744629514522142

By:

Aasen, Gro;
Nærland, Terje

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

Using an onomatopoeic tool in usability test with blind people.

Published in:

Interactive Learning Environments, 2023, v. 31, n. 6, p. 3491, doi. 10.1080/10494820.2021.1932526

By:

Berg, Carlos Henrique;
Ulbricht, Vania;
Vanzin, Tarcísio;
Fadel, Luciane Maria

Publication type:

Article

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

Published in:

G3: Genes | Genomes | Genetics, 2017, v. 7, n. 10, p. 3257, doi. 10.1534/g3.117.300109

By:

Javadiyan, Shari;
Craig, Jamie E.;
Souzeau, Emmanuelle;
Sharma, Shiwani;
Lower, Karen M.;
Mackey, David A.;
Staffieri, Sandra E.;
Elder, James E.;
Taranath, Deepa;
Straga, Tania;
Black, Joanna;
Pater, John;
Casey, Theresa;
Hewitt, Alex W.;
Burdon, Kathryn P.

Publication type:

Article

Glaucoma Gene.

Published in:

JAMA: Journal of the American Medical Association, 2007, v. 298, n. 13, p. 1506, doi. 10.1001/jama.298.13.1506-b

By:

Hampton, Tracy

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

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

MIDDLE LATENCY AUDITORY EVOKED POTENTIALS IN CONGENITALLY BLIND AND NORMAL SIGHTED SUBJECTS.

Published in:

International Journal of Neuroscience, 1997, v. 90, n. 1/2, p. 105, doi. 10.3109/00207459709000630

By:

Naveen, K.V.;
Srinivas, R.S.;
Nirmala, K.S.;
Nagendra, H.R.;
Telles, Shirley

Publication type:

Article

Gene therapy may be an option for restoring vision in congenital blindness.

Published in:

Ocular Surgery News, 2008, v. 26, n. 21, p. 20

By:

Bechtel, Bryan

Publication type:

Article

Ocular network may open doors for gene-based therapies.

Published in:

Ocular Surgery News, 2008, v. 26, n. 6, p. 4

By:

Loughery, Jessica

Publication type:

Article

Speaking Clearly for the Blind: Acoustic and Articulatory Correlates of Speaking Conditions in Sighted and Congenitally Blind Speakers.

Published in:

PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0160088

By:

Ménard, Lucie;
Trudeau-Fisette, Pamela;
Côté, Dominique;
Turgeon, Christine

Publication type:

Article