Literature DB >> 25873014

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.

Maria Pia Manitto1, Susanne Roosing2,3, Camiel J F Boon4,5, Eric H Souied6, Francesco Bandello1, Giuseppe Querques1,6.   

Abstract

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Year:  2015        PMID： 25873014      PMCID： PMC4795210          DOI： 10.1038/ejhg.2015.67

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  26 in total

Review 1.  Nonsense-mediated mRNA decay in health and disease.

Authors:  P A Frischmeyer; H C Dietz
Journal:  Hum Mol Genet       Date:  1999       Impact factor: 6.150

2.  The ABCA4 gene in autosomal recessive cone-rod dystrophies.

Authors:  Dominique Ducroq; Jean-Michel Rozet; Sylvie Gerber; Isabelle Perrault; Dabienne Barbet; Sylvain Hanein; Selim Hakiki; Jean-Louis Dufier; Arnold Munnich; Christian Hamel; Josseline Kaplan
Journal:  Am J Hum Genet       Date:  2002-12       Impact factor: 11.025

Review 3.  Ocular genetics: current understanding.

Authors:  Ian M MacDonald; Mai Tran; Maria A Musarella
Journal:  Surv Ophthalmol       Date:  2004 Mar-Apr       Impact factor: 6.048

Review 4.  Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

Authors:  Michel Michaelides; Alison J Hardcastle; David M Hunt; Anthony T Moore
Journal:  Surv Ophthalmol       Date:  2006 May-Jun       Impact factor: 6.048

5.  Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.

Authors:  F P Cremers; D J van de Pol; M van Driel; A I den Hollander; F J van Haren; N V Knoers; N Tijmes; A A Bergen; K Rohrschneider; A Blankenagel; A J Pinckers; A F Deutman; C B Hoyng
Journal:  Hum Mol Genet       Date:  1998-03       Impact factor: 6.150

6.  The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.

Authors:  A Maugeri; M A van Driel; D J van de Pol; B J Klevering; F J van Haren; N Tijmes; A A Bergen; K Rohrschneider; A Blankenagel; A J Pinckers; N Dahl; H G Brunner; A F Deutman; C B Hoyng; F P Cremers
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

7.  Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Authors:  B Jeroen Klevering; Suzanne Yzer; Klaus Rohrschneider; Marijke Zonneveld; Rando Allikmets; L Ingeborgh van den Born; Alessandra Maugeri; Carel B Hoyng; Frans P M Cremers
Journal:  Eur J Hum Genet       Date:  2004-12       Impact factor: 4.246

8.  Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

Authors:  K Jaakson; J Zernant; M Külm; A Hutchinson; N Tonisson; D Glavac; M Ravnik-Glavac; M Hawlina; M R Meltzer; R C Caruso; F Testa; A Maugeri; C B Hoyng; P Gouras; F Simonelli; R A Lewis; J R Lupski; F P M Cremers; R Allikmets
Journal:  Hum Mutat       Date:  2003-11       Impact factor: 4.878

9.  An ABCA4 genomic deletion in patients with Stargardt disease.

Authors:  Alexander N Yatsenko; Noah F Shroyer; Richard A Lewis; James R Lupski
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878

10.  ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.

Authors:  Gerald A Fishman; Edwin M Stone; David A Eliason; Chris M Taylor; Martin Lindeman; Deborah J Derlacki
Journal:  Arch Ophthalmol       Date:  2003-06
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  3 in total

1.  Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up.

Authors:  Rita Serra; Matteo Floris; Antonio Pinna; Francesco Boscia; Francesco Cucca; Andrea Angius
Journal:  Mol Vis       Date:  2019-12-02       Impact factor: 2.367

2.  Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.

Authors:  Fen-Fen Li; Xiu-Feng Huang; Jie Chen; Xu-Dong Yu; Mei-Qin Zheng; Fan Lu; Zi-Bing Jin; De-Kang Gan
Journal:  J Transl Med       Date:  2015-10-22       Impact factor: 5.531

3.  Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Authors:  Anna Wawrocka; Anna Skorczyk-Werner; Katarzyna Wicher; Zuzanna Niedziela; Rafal Ploski; Malgorzata Rydzanicz; Maciej Sykulski; Jaroslaw Kociecki; Nicole Weisschuh; Susanne Kohl; Saskia Biskup; Bernd Wissinger; Maciej R Krawczynski
Journal:  Mol Vis       Date:  2018-04-26       Impact factor: 2.367
  3 in total

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