Rendtorff ND - Search Results

1

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN, Möller C, Tranebjærg L, Katsanis N, Cremers FP. Liu YP, et al. Among authors: rendtorff nd. Ophthalmic Genet. 2017 Mar-Apr;38(2):127-132. doi: 10.3109/13816810.2016.1151898. Epub 2016 Mar 30. Ophthalmic Genet. 2017. PMID: 27029556 Free PMC article.

2

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L. Rendtorff ND, et al. Eur J Hum Genet. 2006 Oct;14(10):1097-105. doi: 10.1038/sj.ejhg.5201670. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773128

3

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.

4

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L. Sanggaard KM, et al. Among authors: rendtorff nd. Eur J Hum Genet. 2007 Nov;15(11):1121-31. doi: 10.1038/sj.ejhg.5201900. Epub 2007 Jul 18. Eur J Hum Genet. 2007. PMID: 17637804

5

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

6

Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.

Topsakal V, Hilgert N, van Dinther J, Tranebjaerg L, Rendtorff ND, Zarowski A, Offeciers E, Van Camp G, van de Heyning P. Topsakal V, et al. Among authors: rendtorff nd. Audiol Neurootol. 2010;15(4):211-20. doi: 10.1159/000255339. Epub 2009 Nov 5. Audiol Neurootol. 2010. PMID: 19893302

7

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.

Kokotas H, Grigoriadou M, Yang L, Lodahl M, Rendtorff ND, Gyftodimou Y, Korres GS, Ferekidou E, Kandiloros D, Korres S, Tranebjærg L, Guan MX, Petersen MB. Kokotas H, et al. Among authors: rendtorff nd. Int J Pediatr Otorhinolaryngol. 2011 Jan;75(1):89-94. doi: 10.1016/j.ijporl.2010.10.016. Epub 2010 Nov 5. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21056478

8

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L. Rendtorff ND, et al. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. Am J Med Genet A. 2011. PMID: 21538838 Free PMC article.

9

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.

10

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

Yuca SA, Rendtorff ND, Boulahbel H, Lodahl M, Tranebjærg L, Cesur Y, Dogan M, Yilmaz C, Akgun C, Acikgoz M. Yuca SA, et al. Among authors: rendtorff nd. Eur J Med Genet. 2012 Jan;55(1):37-42. doi: 10.1016/j.ejmg.2011.08.005. Epub 2011 Sep 23. Eur J Med Genet. 2012. PMID: 21968327

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