Works matching DE "GENETICS of blindness"

Results: 157

Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.

Published in:

Nature, 1994, v. 367, n. 6464, p. 639, doi. 10.1038/367639a0

By:

Rao, Vikram R.;
Cohen, George B.

Publication type:

Article

Dendrimers for gene delivery - a potential approach for ocular therapy?

Published in:

Journal of Pharmacy & Pharmacology, 2014, v. 66, n. 4, p. 542, doi. 10.1111/jphp.12104

By:

Chaplot, Sahil P.;
Rupenthal, Ilva D.

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

The genetic profile of Leber congenital amaurosis in an Australian cohort.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 652, doi. 10.1002/mgg3.321

By:

Thompson, Jennifer A.;
De Roach, John N.;
McLaren, Terri L.;
Montgomery, Hannah E.;
Hoffmann, Ling H.;
Campbell, Isabella R.;
Chen, Fred K.;
Mackey, David A.;
Lamey, Tina M.

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

Inflammation and Age-Related Macular Degeneration (AMD).

Published in:

Seminars in Ophthalmology, 2011, v. 26, n. 3, p. 192, doi. 10.3109/08820538.2011.570849

By:

Telander, David G.

Publication type:

Article

Leber congenital amaurosis associated with Chiari I malformation: Two cases and a review of the literature.

Published in:

2012

By:

Petraglia, Anthony L.;
Chengazi, Harris U.;
Chung, Mina M.;
Silberstein, Howard J.

Publication type:

Case Study

Brief Report: Intersection of Sets of Symptoms Between Congenital Blindness and ASD: Proposing of Differential Criteria.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 1, p. 389, doi. 10.1007/s10803-022-05585-0

By:

Jarjoura, Waleed

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

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

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

The podalic proprioception channel to increase motor skills in blind children: Operational applications.

Published in:

Journal of Human Sport & Exercise, 2017, v. 12, n. 3, p. 753, doi. 10.14198/jhse.2017.123.19

By:

SGAMBELLURI, ROSA;
PISTONI, MASSIMO

Publication type:

Article

Oral compound may lead to vision gains in Leber's congenital amaurosis.

Published in:: Ocular Surgery News, 2010, v. 28, n. 19, p. 20
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

A Novel MECP2 Change in an Indian Boy With Variant Rett Phenotype and Congenital Blindness: Implications for Genetic Counseling and Prenatal Diagnosis.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 2, p. 209, doi. 10.1177/0883073810378535

By:

Khajuria, Rajni;
Gupta, Neerja;
Sapra, Savita;
Gulati, Sheffali;
Ghosh, Manju;
Kalra, Veena;
Kabra, Madhulika

Publication type:

Article

A 16-Year-Old Girl With Bilateral Visual Loss and Left Hemiparesis Following an Immunization Against Human Papilloma Virus.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 3, p. 321, doi. 10.1177/0883073809349322

By:

DiMario, Jr., Francis J.;
Hajjar, Mirna;
Ciesielski, Thomas

Publication type:

Article

Chemosensory Function in Congenitally Blind or Deaf Teenagers.

Published in:

Chemosensory Perception, 2016, v. 9, n. 1, p. 8, doi. 10.1007/s12078-015-9199-2

By:

Guducu, Cagdas;
Oniz, Adile;
Ikiz, Ahmet;
Ozgoren, Murat

Publication type:

Article

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Published in:

2016

By:

Mauri, Lucia;
Uebe, Steffen;
Sticht, Heinrich;
Vossmerbaeumer, Urs;
Weisschuh, Nicole;
Manfredini, Emanuela;
Maselli, Edoardo;
Patrosso, Mariacristina;
Weinreb, Robert N.;
Penco, Silvana;
Reis, André;
Pasutto, Francesca

Publication type:

journal article

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.

Published in:

2016

By:

Geraets, Ryan D.;
Seung yon Koh;
Hastings, Michelle L.;
Kielian, Tammy;
Pearce, David A.;
Weimer, Jill M.;
Koh, Seung Yon

Publication type:

journal article

Nonvisual spatial navigation fMRI lateralizes mesial temporal lobe epilepsy in a patient with congenital blindness.

Published in:

Neurocase (Taylor & Francis Ltd), 2015, v. 21, n. 6, p. 748, doi. 10.1080/13554794.2014.986136

By:

Toller, Gianina;
Adhimoolam, Babu;
Grunwald, Thomas;
Huppertz, Hans-Jürgen;
König, Kristina;
Jokeit, Hennric

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

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

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

Deep phenotype unsupervised machine learning revealed the significance of pachychoroid features in etiology and visual prognosis of age-related macular degeneration.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75451-5

By:

Hosoda, Yoshikatsu;
Miyake, Masahiro;
Yamashiro, Kenji;
Ooto, Sotaro;
Takahashi, Ayako;
Oishi, Akio;
Miyata, Manabu;
Uji, Akihito;
Muraoka, Yuki;
Tsujikawa, Akitaka

Publication type:

Article

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65737-z

By:

Fujinami-Yokokawa, Yu;
Fujinami, Kaoru;
Kuniyoshi, Kazuki;
Hayashi, Takaaki;
Ueno, Shinji;
Mizota, Atsushi;
Shinoda, Kei;
Arno, Gavin;
Pontikos, Nikolas;
Yang, Lizhu;
Liu, Xiao;
Sakuramoto, Hiroyuki;
Katagiri, Satoshi;
Mizobuchi, Kei;
Kominami, Taro;
Terasaki, Hiroko;
Nakamura, Natsuko;
Kameya, Shuhei;
Yoshitake, Kazutoshi;
Miyake, Yozo

Publication type:

Article

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

Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.

Published in:

2016

By:

Hasan, Somar M.;
Azmeh, Arwa;
Mostafa, Osama;
Megarbane, Andre

Publication type:

Case Study

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

Published in:

BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-1890-0

By:

Javadiyan, Shari;
Craig, Jamie E.;
Souzeau, Emmanuelle;
Sharma, Shiwani;
Lower, Karen M.;
Pater, John;
Casey, Theresa;
Hodson, Trevor;
Burdon, Kathryn P.

Publication type:

Article

Lifestyle and age-related macular degeneration.

Published in:

Expert Review of Ophthalmology, 2009, v. 4, n. 1, p. 79, doi. 10.1586/17469899.4.1.79

By:

Wickremasinghe, Sanjeewa S.;
Chong, Elaine W. T.;
Guymer, Robyn H.

Publication type:

Article

Genetics, phenotypes, mechanisms and treatments for Leber congenital amaurosis: a paradigm shift.

Published in:

Expert Review of Ophthalmology, 2008, v. 3, n. 4, p. 397, doi. 10.1586/17469899.3.4.397

By:

Koenekoop, Robert k.;
Lopez, Irma;
Allikmets, Rando;
Cremers, Frans P. M.;
den Hollander, Anneke I.

Publication type:

Article

Gene therapy for inherited childhood blindness shows promise.

Published in:

2008

By:

Bainbridge, James;
Ali, Robin

Publication type:

Editorial

Proceedings of the 39th Conference of the New Zealand Society for Veterinary Pathology.

Published in:: 2014
Publication type:: Conference Paper/Materials

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

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

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

Heather at the Neurologist's.

Published in:

Equity & Excellence in Education, 2006, v. 39, n. 2, p. 115, doi. 10.1080/10665680500533066

By:

McKie, Florence

Publication type:

Article

Spatial navigation by congenitally blind individuals.

Published in:

WIREs: Cognitive Science, 2016, v. 7, n. 1, p. 37, doi. 10.1002/wcs.1375

By:

Schinazi, Victor R.;
Thrash, Tyler;
Chebat, Daniel‐Robert

Publication type:

Article

CONGENITAL BLIND AND SIGHTED; EMOTIONAL INTELLIGENCE DIFFERENCE.

Published in:

Professional Medical Journal, 2015, v. 22, n. 10, p. 1336, doi. 10.17957/TPMJ/15.2873

By:

Arshad, Muhammad;
Lodhi, Muhammad Aslam

Publication type:

Article

Production of basic emotions by children with congenital blindness: Evidence for the embodiment of theory of mind.

Published in:

British Journal of Developmental Psychology, 2006, v. 24, n. 3, p. 507, doi. 10.1348/026151005X50663

By:

Roch‐Levecq, Anne‐Catherine

Publication type:

Article

Spatial coordinate systems for tactile spatial attention depend on developmental vision: evidence from event-related potentials in sighted and congenitally blind adult humans.

Published in:

European Journal of Neuroscience, 2008, v. 28, n. 3, p. 475, doi. 10.1111/j.1460-9568.2008.06352.x

By:

Röder, Brigitte;
Föcker, Julia;
Hötting, Kirsten;
Spence, Charles

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

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

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

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

Nonvisual and Visual Object Shape Representations in Occipitotemporal Cortex: Evidence from Congenitally Blind and Sighted Adults.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 1, p. 163, doi. 10.1523/JNEUROSCI.1114-13.2014

By:

Peelen, Marius V.;
Chenxi He;
Zaizhu Han;
Caramazza, Alfonso;
Yanchao Bi

Publication type:

Article

Early Auditory Processing in Area V5/MT+ of the Congenitally Blind Brain.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 46, p. 18242, doi. 10.1523/JNEUROSCI.2546-13.2013

By:

Watkins, Kate E.;
Shakespeare, Timothy J.;
O'Donoghue, M. Clare;
Alexander, Iona;
Ragge, Nicola;
Cowey, Alan;
Bridge, Holly

Publication type:

Article

Altered Intrinsic Neuronal Interactions in the Visual Cortex of the Blind.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 43, p. 17072, doi. 10.1523/JNEUROSCI.1625-13.2013

By:

Hawellek, David J.;
Schepers, Inga M.;
Roeder, Brigitte;
Engel, Andreas K.;
Siegel, Markus;
Hipp, Joerg F.

Publication type:

Article