Literature DB >> 12408068

The phenotype of DFNA13/COL11A2.

Els M R De Leenheer1, Wyman T McGuirt, Henricus P M Kunst, Patrick L M Huygen, Richard J H Smith, Cor W R J Cremers.   

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Year:  2002        PMID： 12408068     DOI： 10.1159/000066804

Source DB:  PubMed          Journal:  Adv Otorhinolaryngol        ISSN： 0065-3071


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  4 in total

1.  Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.

Authors:  Margit Schraders; Laura Ruiz-Palmero; Ersan Kalay; Jaap Oostrik; Francisco J del Castillo; Orhan Sezgin; Andy J Beynon; Tim M Strom; Ronald J E Pennings; Celia Zazo Seco; Anne M M Oonk; Henricus P M Kunst; María Domínguez-Ruiz; Ana M García-Arumi; Miguel del Campo; Manuela Villamar; Lies H Hoefsloot; Felipe Moreno; Ronald J C Admiraal; Ignacio del Castillo; Hannie Kremer
Journal:  Am J Hum Genet       Date:  2012-11-02       Impact factor: 11.025

2.  Similar phenotypes caused by mutations in OTOG and OTOGL.

Authors:  Anne M M Oonk; Joop M Leijendeckers; Patrick L M Huygen; Margit Schraders; Miguel del Campo; Ignacio del Castillo; Mustafa Tekin; Ilse Feenstra; Andy J Beynon; Henricus P M Kunst; Ad F M Snik; Hannie Kremer; Ronald J C Admiraal; Ronald J E Pennings
Journal:  Ear Hear       Date:  2014 May-Jun       Impact factor: 3.570

Review 3.  Hearing impairment in Stickler syndrome: a systematic review.

Authors:  Frederic R E Acke; Ingeborg J M Dhooge; Fransiska Malfait; Els M R De Leenheer
Journal:  Orphanet J Rare Dis       Date:  2012-10-30       Impact factor: 4.123

Review 4.  Molecular genetics of non-syndromic deafness.

Authors:  Vânia B Piatto; Ellen C T Nascimento; Fabiana Alexandrino; Camila A Oliveira; Ana Cláudia P Lopes; Edi Lúcia Sartorato; José Victor Maniglia
Journal:  Braz J Otorhinolaryngol       Date:  2005-08-02
  4 in total

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