HuGE Literature Finder
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Records 1-40
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Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.
Ophthalmic genetics 2017 Sep 1-7. Villanueva Adda, Biswas Pooja, Kishaba Kameron, Suk John, Tadimeti Keerti, Raghavendra Pongali B, Nadeau Karine, Lamontagne Bruno, Busque Lambert, Geoffroy Steve, Mongrain Ian, Asselin Géraldine, Provost Sylvie, Dubé Marie-Pierre, Nudleman Eric, Ayyagari Rad |
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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 |
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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 |
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CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.
Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
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Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.
Investigative ophthalmology & visual science 2016 Sep 57 (11): 4668-78. Fakin Ana, Robson Anthony G, Fujinami Kaoru, Moore Anthony T, Michaelides Michel, Pei-Wen Chiang John, E Holder Graham, Webster Andrew |
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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 |
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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 |
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Molecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands.
Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
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Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Investigative ophthalmology & visual science 2016 Jan 57 (1): 145-52. Jiang Feng, Pan Zhe, Xu Ke, Tian Lu, Xie Yue, Zhang Xiaohui, Chen Jieqiong, Dong Bing, Li Ya |
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Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.
Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
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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 |
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Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).
BMC ophthalmology 2015 15 18. Grassmann Felix, Bergholz Richard, Mändl Julia, Jägle Herbert, Ruether Klaus, Weber Bernhard H |
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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 |
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Reduced macular function in ABCA4 carriers.
Molecular vision 2015 21 767-82. Kjellström Ulri |
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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Investigative ophthalmology & visual science 2014 Sep 55 (9): 5510-21. Alapati Akhila, Goetz Kerry, Suk John, Navani Mili, Al-Tarouti Amani, Jayasundera Thiran, Tumminia Santa J, Lee Pauline, Ayyagari Rad |
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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 |
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Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
PloS one 2014 9 (8): e104281. Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Man |
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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Ophthalmology 2013 Nov 120 (11): 2332-7. Riveiro-Alvarez Rosa, Lopez-Martinez Miguel-Angel, Zernant Jana, Aguirre-Lamban Jana, Cantalapiedra Diego, Avila-Fernandez Almudena, Gimenez Ascension, Lopez-Molina Maria-Isabel, Garcia-Sandoval Blanca, Blanco-Kelly Fiona, Corton Marta, Tatu Sorina, Fernandez-San Jose Patricia, Trujillo-Tiebas Maria-Jose, Ramos Carmen, Allikmets Rando, Ayuso Carm |
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ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.
Experimental eye research 2013 Apr 109 77-82. Chacón-Camacho Oscar F, Granillo-Alvarez Mariella, Ayala-Ramírez Raul, Zenteno Juan |
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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 |
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Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Investigative ophthalmology & visual science 2011 Aug 52 (9): 6206-12. Aguirre-Lamban Jana, González-Aguilera Juan José, Riveiro-Alvarez Rosa, Cantalapiedra Diego, Avila-Fernandez Almudena, Villaverde-Montero Cristina, Corton Marta, Blanco-Kelly Fiona, Garcia-Sandoval Blanca, Ayuso Carm |
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Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Ophthalmology 2011 Jan 118 (1): 160-167.e1-3. Booij Judith C, Bakker Arne, Kulumbetova Jamilia, Moutaoukil Youssef, Smeets Bert, Verheij Joke, Kroes Hester Y, Klaver Caroline C W, van Schooneveld Mary, Bergen Arthur A B, Florijn Ralph |
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Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Ophthalmology 2010 Nov 117 (11): 2169-77.e3. Clark Graeme Richard, Crowe Paul, Muszynska Dorota, O'Prey Dominic, O'Neill Justin, Alexander Sharon, Willoughby Colin Eric, McKay Gareth John, Silvestri Giuliana, Simpson David Arth |
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Genetic association study of age-related macular degeneration in the Spanish population.
Acta ophthalmologica 2010 Nov . Brión M, Sanchez-Salorio M, Cortón M, De La Fuente M, Pazos B, Othman M, Swaroop A, Abecasis G, Sobrino B, Carracedo A |
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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
The British journal of ophthalmology 2009 Oct 93 (10): 1359-64. Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez M Angel, Trujillo-Tiebas M Jose, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso |
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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
The British journal of ophthalmology 2009 May 93 (5): 614-21. Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas M J, Ramos C, Ayuso |
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Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss.
Journal of medical genetics 2009 May 46 (5): 300-7. Francis P J, Hamon S C, Ott J, Weleber R G, Klein M |
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Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.
Archives of ophthalmology (Chicago, Ill. : 1960) 2009 Apr 127 (4): 549-54. Roberts Lisa J, Ramesar Rajkumar S, Greenberg Jacqu |
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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 |
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Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations?
Clinical chemistry and laboratory medicine : CCLM / FESCC 2008 46 (9): 1250-5. Stenirri Stefania, Alaimo Georgia, Manitto Maria Pia, Brancato Rosario, Ferrari Maurizio, Cremonesi Lau |
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Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.
Investigative ophthalmology & visual science 2007 Mar 48 (3): 985-90. Valverde Diana, Riveiro-Alvarez Rosa, Aguirre-Lamban Jana, Baiget Montserrat, Carballo Miguel, Antiñolo Guillermo, Millán José Maria, Garcia Sandoval Blanca, Ayuso Carm |
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N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.
Molecular vision 2007 13 1962-9. Rosenberg Thomas, Klie Flemming, Garred Peter, Schwartz Marian |
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Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease.
Investigative ophthalmology & visual science 2005 Dec 46 (12): 4402-8. Hargitai Janos, Zernant Jana, Somfai Gabor M, Vamos Rita, Farkas Agnes, Salacz Gyorgy, Allikmets Ran |
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Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
European journal of human genetics : EJHG 2004 Dec 12 (12): 1024-32. Klevering B Jeroen, Yzer Suzanne, Rohrschneider Klaus, Zonneveld Marijke, Allikmets Rando, van den Born L Ingeborgh, Maugeri Alessandra, Hoyng Carel B, Cremers Frans P |
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Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation.
Investigative ophthalmology & visual science 2004 Jul 45 (7): 2447-56. Kang Derwent Jennifer J, Derlacki Deborah J, Hetling John R, Fishman Gerald A, Birch David G, Grover Sandeep, Stone Edwin M, Pepperberg David |
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Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.
Investigative ophthalmology & visual science 2003 Jul 44 (7): 2868-75. Schmidt Silke, Postel Eric A, Agarwal Anita, Allen I Coy, Walters Shaune N, De la Paz Monica A, Scott William K, Haines Jonathan L, Pericak-Vance Margaret A, Gilbert John |
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ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
Archives of ophthalmology (Chicago, Ill. : 1960) 2003 Jun 121 (6): 851-5. Fishman Gerald A, Stone Edwin M, Eliason David A, Taylor Chris M, Lindeman Martin, Derlacki Deborah |
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An analysis of allelic variation in the ABCA4 gene.
Investigative ophthalmology & visual science 2001 May 42 (6): 1179-89. Webster A R, Héon E, Lotery A J, Vandenburgh K, Casavant T L, Oh K T, Beck G, Fishman G A, Lam B L, Levin A, Heckenlively J R, Jacobson S G, Weleber R G, Sheffield V C, Stone E |
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Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
Archives of ophthalmology (Chicago, Ill. : 1960) 2001 May 119 (5): 745-51. Guymer R H, Héon E, Lotery A J, Munier F L, Schorderet D F, Baird P N, McNeil R J, Haines H, Sheffield V C, Stone E |
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ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 0 217 (2): 111-4. Baum Larry, Chan Wai Man, Li Wai Ying, Lam Dennis S C, Wang Peng Bo, Pang Chi P |
- Page last reviewed:Jul 30, 2019
- Page last updated:Oct 10, 2019
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