Literature DB >> 17249549

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.

Sylvain Hanein1, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy, Jean-Michel Rozet, Josseline Kaplan.   

Abstract

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Year:  2006        PMID： 17249549     DOI： 10.1007/0-387-32442-9_3

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  8 in total

1.  Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

Authors:  Guylène Le Meur; Pierre Lebranchu; Fanny Billaud; Oumeya Adjali; Sébastien Schmitt; Stéphane Bézieau; Yann Péréon; Romain Valabregue; Catherine Ivan; Christophe Darmon; Philippe Moullier; Fabienne Rolling; Michel Weber
Journal:  Mol Ther       Date:  2017-09-19       Impact factor: 11.454

2.  Single doses of all-trans-N-retinylacetamide slow down the ERG amplitude recovery after bleaching in rats.

Authors:  Andre Messias; Eberhart Zrenner; Radouil Tzekov; David McGee; Tobias Peters; Barbara Wilhelm; Aneta Baryluk; Ryo Kubota; Florian Gekeler
Journal:  Doc Ophthalmol       Date:  2009-12-11       Impact factor: 2.379

3.  Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction.

Authors:  Sami Ellouze; Sébastien Augustin; Aicha Bouaita; Crystel Bonnet; Manuel Simonutti; Valérie Forster; Serge Picaud; Jose-Alain Sahel; Marisol Corral-Debrinski
Journal:  Am J Hum Genet       Date:  2008-09-04       Impact factor: 11.025

4.  Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.

Authors:  Frauke Coppieters; Ingele Casteels; Françoise Meire; Sarah De Jaegere; Sally Hooghe; Nicole van Regemorter; Hilde Van Esch; Ausra Matuleviciene; Luis Nunes; Valérie Meersschaut; Sophie Walraedt; Lieve Standaert; Paul Coucke; Heidi Hoeben; Hester Y Kroes; Johan Vande Walle; Thomy de Ravel; Bart P Leroy; Elfride De Baere
Journal:  Hum Mutat       Date:  2010-10       Impact factor: 4.878

5.  Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.

Authors:  Katsuhiro Hosono; Yuko Harada; Kentaro Kurata; Akiko Hikoya; Miho Sato; Shinsei Minoshima; Yoshihiro Hotta
Journal:  J Ophthalmol       Date:  2015-05-13       Impact factor: 1.909

6.  Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.

Authors:  Lan Lu; Xizhen Wang; David Lo; Jingning Weng; Xiaohong Liu; Juhua Yang; Fen He; Yun Wang; Xuyang Liu
Journal:  Oncotarget       Date:  2016-11-29

7.  Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Authors:  Katsuhiro Hosono; Sachiko Nishina; Tadashi Yokoi; Satoshi Katagiri; Hirotomo Saitsu; Kentaro Kurata; Daisuke Miyamichi; Akiko Hikoya; Kei Mizobuchi; Tadashi Nakano; Shinsei Minoshima; Maki Fukami; Hiroyuki Kondo; Miho Sato; Takaaki Hayashi; Noriyuki Azuma; Yoshihiro Hotta
Journal:  Sci Rep       Date:  2018-05-29       Impact factor: 4.379

8.  Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Authors:  Isabelle Perrault; Sylvain Hanein; Xavier Gérard; Nelson Mounguengue; Ryme Bouyakoub; Mohammed Zarhrate; Cécile Fourrage; Fabienne Jabot-Hanin; Béatrice Bocquet; Isabelle Meunier; Xavier Zanlonghi; Josseline Kaplan; Jean-Michel Rozet
Journal:  Genes (Basel)       Date:  2021-02-18       Impact factor: 4.096
  8 in total

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