Literature DB >> 27814526

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben-Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon.   

Abstract

Entities:  

Year:  2016        PMID： 27814526      PMCID： PMC5097977          DOI： 10.1016/j.ajhg.2016.09.012

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  4 in total

1.  WDR34, a candidate gene for non-syndromic rod-cone dystrophy.

Authors:  Maria Solaguren-Beascoa; Kinga M Bujakowska; Cécile Méjécase; Lisa Emmenegger; Elise Orhan; Marion Neuillé; Saddek Mohand-Saïd; Christel Condroyer; Marie-Elise Lancelot; Christelle Michiels; Vanessa Demontant; Aline Antonio; Mélanie Letexier; Jean-Paul Saraiva; Christine Lonjou; Wassila Carpentier; Thierry Léveillard; Eric A Pierce; Hélène Dollfus; José-Alain Sahel; Shomi S Bhattacharya; Isabelle Audo; Christina Zeitz
Journal:  Clin Genet       Date:  2020-11-09       Impact factor: 4.438

Review 2.  Usher Syndrome.

Authors:  Alessandro Castiglione; Claes Möller
Journal:  Audiol Res       Date:  2022-01-11

Review 3.  The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.

Authors:  Sedigheh Delmaghani; Aziz El-Amraoui
Journal:  Hum Genet       Date:  2022-03-30       Impact factor: 5.881

4.  A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.

Authors:  Rebekkah J Hitti-Malin; Louise M Burmeister; Sally L Ricketts; Thomas W Lewis; Louise Pettitt; Mike Boursnell; Ellen C Schofield; David Sargan; Cathryn S Mellersh
Journal:  BMC Genet       Date:  2020-09-07       Impact factor: 2.797
  4 in total

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