Skovby F - Search Results

1

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.

2

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. van Bokhoven H, et al. Among authors: skovby f. Nat Genet. 2000 Aug;25(4):423-6. doi: 10.1038/78113. Nat Genet. 2000. PMID: 10932187

3

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

4

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: skovby f. Hum Mutat. 2005 Oct;26(4):374-83. doi: 10.1002/humu.20227. Hum Mutat. 2005. PMID: 16114042

5

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.

6

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

7

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW. Gordillo M, et al. Among authors: skovby f. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14. Hum Mol Genet. 2008. PMID: 18411254

8

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.

9

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Vega H, et al. Among authors: skovby f. J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574259

10

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

Kjaergaard S, Skovby F, Schwartz M. Kjaergaard S, et al. Among authors: skovby f. Eur J Hum Genet. 1998 Jul-Aug;6(4):331-6. doi: 10.1038/sj.ejhg.5200194. Eur J Hum Genet. 1998. PMID: 9781039

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

165 results

Search Page