Skovby F - Search Results

1

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH. Quintana AM, et al. Among authors: skovby f. Hum Mol Genet. 2017 Aug 1;26(15):2838-2849. doi: 10.1093/hmg/ddx157. Hum Mol Genet. 2017. PMID: 28449119 Free PMC article.

2

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Brunner HG, van Bon BW, Carvalho CM. White J, et al. Among authors: skovby f. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817016 Free PMC article.

3

The impact of consanguinity on the frequency of inborn errors of metabolism.

Afzal RM, Lund AM, Skovby F. Afzal RM, et al. Among authors: skovby f. Mol Genet Metab Rep. 2018 Jan 11;15:6-10. doi: 10.1016/j.ymgmr.2017.11.004. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 29387562 Free PMC article.

4

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.

Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M. Ravn K, et al. Among authors: skovby f. Am J Hum Genet. 2000 Jul;67(1):203-6. doi: 10.1086/302971. Epub 2000 May 16. Am J Hum Genet. 2000. PMID: 10820128 Free PMC article.

5

Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.

Duno M, Skovby F, Schwartz M. Duno M, et al. Among authors: skovby f. Ann Hum Genet. 2007 Nov;71(Pt 6):713-8. doi: 10.1111/j.1469-1809.2007.00376.x. Epub 2007 Jun 11. Ann Hum Genet. 2007. PMID: 17561922

6

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.

Schwartz M, Sørensen N, Hansen FJ, Hertz JM, Nørby S, Tranebjaerg L, Skovby F. Schwartz M, et al. Among authors: skovby f. Hum Mol Genet. 1997 Jan;6(1):99-104. doi: 10.1093/hmg/6.1.99. Hum Mol Genet. 1997. PMID: 9002676

7

Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV.

Lund AM, Skovby F, Schwartz M. Lund AM, et al. Among authors: skovby f. Hum Genet. 1996 Mar;97(3):287-90. doi: 10.1007/BF02185755. Hum Genet. 1996. PMID: 8786065

8

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1.

Lund AM, Schwartz M, Skovby F. Lund AM, et al. Among authors: skovby f. Clin Genet. 1996 Nov;50(5):304-9. doi: 10.1111/j.1399-0004.1996.tb02379.x. Clin Genet. 1996. PMID: 9007315

9

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Skovby F, Gaustadnes M, Mudd SH. Skovby F, et al. Mol Genet Metab. 2010 Jan;99(1):1-3. doi: 10.1016/j.ymgme.2009.09.009. Mol Genet Metab. 2010. PMID: 19819175 Free PMC article. Review.

10

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: skovby f. 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

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