Tranebjaerg L - Search Results

1

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Janssen N, et al. Among authors: tranebjaerg l. Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Hum Mutat. 2012. PMID: 22461308 Review.

2

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: tranebjaerg l. Hum Mutat. 2012 Aug;33(8):1251-60. doi: 10.1002/humu.22106. Epub 2012 May 11. Hum Mutat. 2012. PMID: 22539353

3

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

4

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

5

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O. Dreyer B, et al. Among authors: tranebjaerg l. Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524. Hum Mutat. 2008. PMID: 18273898

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

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Rendtorff ND, Karstensen HG, Lodahl M, Tolmie J, McWilliam C, Bak M, Tommerup N, Nazaryan-Petersen L, Kunst H, Wong M, Joss S, Carelli V, Tranebjærg L. Rendtorff ND, et al. Among authors: tranebjaerg l. Sci Rep. 2022 Sep 2;12(1):14959. doi: 10.1038/s41598-022-18040-y. Sci Rep. 2022. PMID: 36056138 Free PMC article.

8

Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.

Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S. Husu E, et al. Among authors: tranebjaerg l. Clin Genet. 2013 Feb;83(2):125-34. doi: 10.1111/j.1399-0004.2012.01884.x. Epub 2012 Apr 30. Clin Genet. 2013. PMID: 22462537

9

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: tranebjaerg l. 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

10

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: tranebjaerg l. 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

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