HuGE Literature Finder
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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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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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