Kreiborg S - Search Results

1

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

2

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

Nyboe D, Kreiborg S, Kirchhoff M, Hove HB. Nyboe D, et al. Among authors: kreiborg s. Clin Dysmorphol. 2015 Jul;24(3):109-12. doi: 10.1097/MCD.0000000000000079. Clin Dysmorphol. 2015. PMID: 25714559 No abstract available.

3

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

4

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

5

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

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

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.

Nyboe D, Kreiborg S, Darvann T, Dunø M, Nissen KR, Hove HB. Nyboe D, et al. Among authors: kreiborg s. Clin Dysmorphol. 2018 Jul;27(3):71-77. doi: 10.1097/MCD.0000000000000222. Clin Dysmorphol. 2018. PMID: 29683802

8

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption.

Risom L, Christoffersen L, Daugaard-Jensen J, Hove HD, Andersen HS, Andresen BS, Kreiborg S, Duno M. Risom L, et al. Among authors: kreiborg s. PLoS One. 2013 Sep 18;8(9):e74601. doi: 10.1371/journal.pone.0074601. eCollection 2013. PLoS One. 2013. PMID: 24058597 Free PMC article.

9

Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.

Grímsdóttir S, Hove HB, Kreiborg S, Ek J, Johansen A, Darvann TA, Hermann NV. Grímsdóttir S, et al. Among authors: kreiborg s. Clin Dysmorphol. 2019 Jan;28(1):41-45. doi: 10.1097/MCD.0000000000000244. Clin Dysmorphol. 2019. PMID: 30256248 No abstract available.

10

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

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