Rendtorff ND - Search Results

1

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.

Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E. Ascari G, et al. Among authors: rendtorff nd. Front Cell Dev Biol. 2021 Apr 21;9:664317. doi: 10.3389/fcell.2021.664317. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33968938 Free PMC article.

2

The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13.

Bennetts JS, Rendtorff ND, Simpson F, Tranebjaerg L, Wicking C. Bennetts JS, et al. Among authors: rendtorff nd. Dev Dyn. 2007 Mar;236(3):843-52. doi: 10.1002/dvdy.21064. Dev Dyn. 2007. PMID: 17238154 Free article.

3

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.

Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L. Sanggaard KM, et al. Among authors: rendtorff nd. Am J Med Genet A. 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. Am J Med Genet A. 2008. PMID: 18348273

4

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

Chen N, Tranebjærg L, Rendtorff ND, Schrijver I. Chen N, et al. Among authors: rendtorff nd. J Mol Diagn. 2011 Jul;13(4):416-26. doi: 10.1016/j.jmoldx.2011.03.003. Epub 2011 Apr 29. J Mol Diagn. 2011. PMID: 21704276 Free PMC article.

5

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.

Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z. Schönewolf-Greulich B, et al. Among authors: rendtorff nd. Am J Med Genet A. 2011 Dec;155A(12):2964-9. doi: 10.1002/ajmg.a.34302. Epub 2011 Nov 3. Am J Med Genet A. 2011. PMID: 22052739

6

GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland.

Homøe P, Koch A, Rendtorff ND, Lodahl M, Andersen T, Andersen S, Eiberg H, Nielsen IM, Tranebjærg L. Homøe P, et al. Among authors: rendtorff nd. Int J Audiol. 2012 Jun;51(6):433-6. doi: 10.3109/14992027.2012.660575. Epub 2012 Feb 27. Int J Audiol. 2012. PMID: 22369226

7

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM. Bergman JE, et al. Among authors: rendtorff nd. Hum Mutat. 2012 Aug;33(8):1251-60. doi: 10.1002/humu.22106. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22539353

8

[The genome in terms of audiology and ophthalmology].

Tranebjærg L, Rendtorff ND, Brøndum-Nielsen K. Tranebjærg L, et al. Among authors: rendtorff nd. Ugeskr Laeger. 2014 Nov 10;176(46):V06140365. Ugeskr Laeger. 2014. PMID: 25394931 Free article. Review. Danish.

9

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

Frykholm C, Klar J, Arnesson H, Rehnman AC, Lodahl M, Wedén U, Dahl N, Tranebjærg L, Rendtorff ND. Frykholm C, et al. Among authors: rendtorff nd. Gene. 2015 May 25;563(1):10-6. doi: 10.1016/j.gene.2015.02.022. Epub 2015 Feb 11. Gene. 2015. PMID: 25681523

10

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: rendtorff nd. Eur J Hum Genet. 2015 Dec;23(12):1646-51. doi: 10.1038/ejhg.2015.54. Epub 2015 Mar 25. Eur J Hum Genet. 2015. PMID: 25804404 Free PMC article.

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