Tranebjaerg L - Search Results

1

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: tranebjaerg l. Dev Dyn. 2007 Mar;236(3):843-52. doi: 10.1002/dvdy.21064. Dev Dyn. 2007. PMID: 17238154 Free article.

2

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: tranebjaerg l. 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

3

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, Oostrik J, Kremer H, Tommerup N, Frödin M, Steel KP, Tranebjærg L, Børglum AD. Nyegaard M, et al. Among authors: tranebjaerg l. PLoS Genet. 2015 Jul 21;11(7):e1005386. doi: 10.1371/journal.pgen.1005386. eCollection 2015 Jul. PLoS Genet. 2015. PMID: 26197441 Free PMC article.

4

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND. Rasmussen MB, et al. Among authors: tranebjaerg l. Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2. Hum Genet. 2016. PMID: 26839112

5

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: tranebjaerg l. 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

6

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. Among authors: tranebjaerg l. 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.

7

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: tranebjaerg l. 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

8

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: tranebjaerg l. Gene. 2015 May 25;563(1):10-6. doi: 10.1016/j.gene.2015.02.022. Epub 2015 Feb 11. Gene. 2015. PMID: 25681523

9

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: tranebjaerg l. 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.

10

The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS. Ha AD, et al. Among authors: tranebjaerg l. Mov Disord. 2012 Jul;27(8):1034-40. doi: 10.1002/mds.25033. Epub 2012 Jun 26. Mov Disord. 2012. PMID: 22736418

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

212 results

Search Page