Hove H - Search Results

1

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.

Grønborg S, Kjaergaard S, Hove H, Larsen VA, Kirchhoff M. Grønborg S, et al. Among authors: hove h. Am J Med Genet A. 2015 Nov;167A(11):2731-6. doi: 10.1002/ajmg.a.37227. Epub 2015 Jun 24. Am J Med Genet A. 2015. PMID: 26109418

2

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Dunø M, Hove H, Kirchhoff M, Devriendt K, Schwartz M. Dunø M, et al. Among authors: hove h. Hum Genet. 2004 Nov;115(6):459-67. doi: 10.1007/s00439-004-1174-y. Epub 2004 Sep 18. Hum Genet. 2004. PMID: 15378350

3

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group. Rendtorff ND, et al. Among authors: hove h. Hum Mutat. 2005 Oct;26(4):374-83. doi: 10.1002/humu.20227. Hum Mutat. 2005. PMID: 16114042

4

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

Bisgaard AM, Kirchhoff M, Nielsen JE, Brandt C, Hove H, Jepsen B, Jensen T, Ullmann R, Skovby F. Bisgaard AM, et al. Among authors: hove h. Eur J Med Genet. 2007 Jul-Aug;50(4):243-55. doi: 10.1016/j.ejmg.2007.03.004. Epub 2007 Apr 14. Eur J Med Genet. 2007. PMID: 17531565

5

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R. Hastings R, et al. Among authors: hove h. Eur J Hum Genet. 2011 May;19(5):513-9. doi: 10.1038/ejhg.2010.234. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368916 Free PMC article. Review.

6

Familial craniosynostosis associated with a microdeletion involving the NFIA gene.

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

7

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: hove h. 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

8

Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD).

Diness BR, Palmquist RN, Norling R, Hove H, Bundgaard H, Hertz JM, Kondziella D, Krieger D, Dunø M, Grønborg S. Diness BR, et al. Among authors: hove h. J Neurol Sci. 2020 Aug 15;415:116897. doi: 10.1016/j.jns.2020.116897. Epub 2020 May 13. J Neurol Sci. 2020. PMID: 32464348

9

Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.

Bayat A, Dunø M, Kirchhoff M, Jørgensen FS, Nishimura G, Hove HB. Bayat A, et al. Mol Syndromol. 2020 Jun;11(2):83-89. doi: 10.1159/000506384. Epub 2020 Mar 7. Mol Syndromol. 2020. PMID: 32655339 Free PMC article.

10

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

Lines MA, Goldenberg P, Wong A, Srivastava S, Bayat A, Hove H, Karstensen HG, Anyane-Yeboa K, Liao J, Jiang N, May A, Guzman E, Morleo M, D'Arrigo S, Ciaccio C, Pantaleoni C, Castello R; TUDP Study Group; McKee S, Ong J, Zibdeh-Lough H, Tran-Mau-Them F, Gerasimenko A, Heron D, Keren B, Margot H, de Sainte Agathe JM, Burglen L, Voets T, Vriens J, Innes AM, Dyment DA. Lines MA, et al. Among authors: hove h. Am J Med Genet A. 2022 Jun;188(6):1667-1675. doi: 10.1002/ajmg.a.62673. Epub 2022 Feb 10. Am J Med Genet A. 2022. PMID: 35146895

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