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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 25, 2023. (Total: 221440Documents)
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Records 1 - 14 (of 14 Records)

Query Trace: Retinal Diseases and ABCA4[original query]
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
European journal of human genetics : EJHG 2008 Jul 16 (7): 812-9.
Kitiratschky Veronique B D, Grau Tanja, Bernd Antje, Zrenner Eberhart, Jägle Herbert, Renner Agnes B, Kellner Ulrich, Rudolph Günther, Jacobson Samuel G, Cideciyan Artur V, Schaich Simone, Kohl Susanne, Wissinger Ber
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Orphanet journal of rare diseases 2015 10 (1): 85.
Boulanger-Scemama Elise, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Souied Eric, Mohand-Saïd Saddek, Sahel José-Alain, Zeitz Christina, Audo Isabel
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
Experimental eye research 2015 Nov .
?cie?y?ska Aneta, Ozi?b?o Dominika, Ambroziak Anna M, Korwin Magdalena, Szulborski Kamil, Krawczy?ski Maciej, Stawi?ski Piotr, Szaflik Jerzy, Szaflik Jacek P, P?oski Rafa?, O?dak Moni
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.
Meta gene 2016 Jun 8 37-43.
Tsipi Maria, Tzetis Maria, Kosma Konstantina, Moschos Marilita, Braoudaki Maria, Poulou Myrto, Kanavakis Emmanuel, Kitsiou-Tzeli Sof
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Investigative ophthalmology & visual science 2016 Nov 57 (14): 6374-6381.
Roberts Lisa, Ratnapriya Rinki, du Plessis Morné, Chaitankar Vijender, Ramesar Raj S, Swaroop Ana
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Journal of medical genetics 2017 Apr .
Zernant Jana, Lee Winston, Collison Frederick T, Fishman Gerald A, Sergeev Yuri V, Schuerch Kaspar, Sparrow Janet R, Tsang Stephen H, Allikmets Ran
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.
Human mutation 2017 1 38 (4): 400-408.
Cornelis Stéphanie S, Bax Nathalie M, Zernant Jana, Allikmets Rando, Fritsche Lars G, den Dunnen Johan T, Ajmal Muhammad, Hoyng Carel B, Cremers Frans P
Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.
Molecular vision 2019 12 25 679-690.
Joo Kwangsic, Seong Moon-Woo, Park Kyu Hyung, Park Sung Sup, Woo Se Jo
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Genes 2019 11 10 (12): .
Tracewska Anna M, Kocy?a-Karczmarewicz Beata, Rafalska Agnieszka, Murawska Joanna, Jakubaszko-Jablonska Joanna, Rydzanicz Ma?gorzata, Stawi?ski Piotr, Ciara El?bieta, Khan Muhammad Imran, Henkes Arjen, Hoischen Alexander, Gilissen Christian, van de Vorst Maartje, Cremers Frans P M, P?oski Rafa?, Chrzanowska Krystyna
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
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Frontiers in genetics 2022 7 13 914345.
Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific reports 2022 12 12 (1): 20815.
Karali Marianthi, Testa Francesco, Di Iorio Valentina, Torella Annalaura, Zeuli Roberta, Scarpato Margherita, Romano Francesca, Onore Maria Elena, Pizzo Mariateresa, Melillo Paolo, Brunetti-Pierri Raffaella, Passerini Ilaria, Pelo Elisabetta, Cremers Frans P M, Esposito Gabriella, Nigro Vincenzo, Simonelli Francesca, Banfi Sand
Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
JAMA ophthalmology 2023 7 .
Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Maria Pia Manitto, Elisabetta Martina, Emanuela Aragona, Francesco Bandello, Maurizio Battaglia Paro
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Molecular vision 2023 6 29 1-12.
Tamar Ben Yosef, Eyal Banin, Elana Chervinsky, Stavit A Shalev, Rina Leibu, Eedy Mezer, Ygal Rotenstreich, Nitza Goldenberg-Cohen, Shirel Weiss, Muhammad Imran Khan, Daan M Panneman, Rebekkah J Hitti-Malin, Chen Weiner, Susanne Roosing, Frans P M Cremers, Eran Pras, Dinah Zur, Hadas Newman, Iris Deitch, Dror Sharon, Miriam Ehrenbe
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