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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 11 (of 11 Records)

Query Trace: Counseling and ABCA4[original query]
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
Ophthalmology 2012 Apr 119 (4): 819-26.
Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
European journal of human genetics : EJHG 2014 Jan 22 (1): 99-104.
Glöckle Nicola, Kohl Susanne, Mohr Julia, Scheurenbrand Tim, Sprecher Andrea, Weisschuh Nicole, Bernd Antje, Rudolph Günther, Schubach Max, Poloschek Charlotte, Zrenner Eberhart, Biskup Saskia, Berger Wolfgang, Wissinger Bernd, Neidhardt Jo
A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations.
Investigative ophthalmology & visual science 2013 Nov .
Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM, Fitzke F, Bunce C, Moore AT, Webster AR, Michaelides M
Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.
Journal of human genetics 2016 Jul .
Sundaramurthy Srilekha, Swaminathan Meenakshi, Sen Parveen, Arokiasamy Tharigopala, Deshpande Swati, John Neetha, Gadkari Rupali A, Mannan Ashraf U, Soumittra Nagasa
Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.
Frontiers in genetics 2017 9 8 107.
Qi Yu-He, Gao Feng-Juan, Hu Fang-Yuan, Zhang Sheng-Hai, Chen Jun-Yi, Huang Wan-Jing, Tian Guo-Hong, Wang Min, Gan De-Kang, Wu Ji-Hong, Xu Ge-Z
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.
American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717.
Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea
Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.
Genes 2021 6 12 (6): .
Buhler Virginie M M, Berger Lieselotte, Schaller André, Zinkernagel Martin S, Wolf Sebastian, Escher Pasc
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
JAMA ophthalmology 2021 Oct .
de Breuk Anita, Heesterbeek Thomas J, Bakker Bjorn, Verzijden Timo, Lechanteur Yara T E, Klaver Caroline C W, den Hollander Anneke I, Hoyng Carel
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
NPJ genomic medicine 2023 5 8 (1): 8.
Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Investigative ophthalmology & visual science 2023 2 64 (2): 5.
Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.
Translational pediatrics 2023 11 12 (10): 1835-1841.
Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing
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