Kreiborg S - Search Results

1

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: kreiborg s. 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

2

Phenotypic variability in Muenke syndrome-observations from five Danish families.

Öwall L, Kreiborg S, Dunø M, Hermann NV, Darvann TA, Hove H. Öwall L, et al. Among authors: kreiborg s. Clin Dysmorphol. 2020 Jan;29(1):1-9. doi: 10.1097/MCD.0000000000000300. Clin Dysmorphol. 2020. PMID: 31609728

3

RUNX2 analysis of Danish cleidocranial dysplasia families.

Hansen L, Riis AK, Silahtaroglu A, Hove H, Lauridsen E, Eiberg H, Kreiborg S. Hansen L, et al. Among authors: kreiborg s. Clin Genet. 2011 Mar;79(3):254-63. doi: 10.1111/j.1399-0004.2010.01458.x. Clin Genet. 2011. PMID: 20560987

4

Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1; p23).

Tranebjaerg L, Baekmark UB, Dyhr-Nielsen M, Kreiborg S. Tranebjaerg L, et al. Among authors: kreiborg s. Clin Genet. 1987 Aug;32(2):137-43. doi: 10.1111/j.1399-0004.1987.tb03342.x. Clin Genet. 1987. PMID: 3652493

5

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: kreiborg s. Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2. Hum Genet. 2016. PMID: 26839112

6

Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively.

Hove HD, Dunø M, Larsen P, Kreiborg S. Hove HD, et al. Among authors: kreiborg s. Clin Dysmorphol. 2016 Apr;25(2):86-9. doi: 10.1097/MCD.0000000000000112. Clin Dysmorphol. 2016. PMID: 26925815 No abstract available.

7

Craniofacial morphology in Muenke syndrome.

Keller MK, Hermann NV, Darvann TA, Larsen P, Hove HD, Christensen L, Schwartz M, Marsh JL, Kreiborg S. Keller MK, et al. Among authors: kreiborg s. J Craniofac Surg. 2007 Mar;18(2):374-86. doi: 10.1097/scs.0b013e31803ffa63. J Craniofac Surg. 2007. PMID: 17414289

8

A complex phenotype in a family with a pathogenic SOX3 missense variant.

Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H. Jelsig AM, et al. Among authors: kreiborg s. Eur J Med Genet. 2018 Mar;61(3):168-172. doi: 10.1016/j.ejmg.2017.11.012. Epub 2017 Nov 24. Eur J Med Genet. 2018. PMID: 29175558

9

An echo-poor spine at 13 weeks: an early sign of cleidocranial dysplasia.

Hove HD, Hermann NV, Jørgensen C, Kreiborg S, Sundberg K. Hove HD, et al. Among authors: kreiborg s. Fetal Diagn Ther. 2008;24(2):103-5. doi: 10.1159/000142137. Epub 2008 Jul 17. Fetal Diagn Ther. 2008. PMID: 18648208

10

Prenatal 3D ultrasound diagnostics in cleidocranial dysplasia.

Hermann NV, Hove HD, Jørgensen C, Larsen P, Darvann TA, Kreiborg S, Sundberg K. Hermann NV, et al. Among authors: kreiborg s. Fetal Diagn Ther. 2009;25(1):36-9. doi: 10.1159/000195634. Epub 2009 Jan 23. Fetal Diagn Ther. 2009. PMID: 19169035

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