Skovby F - Search Results

1

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.

2

Screening for carriers of cystic fibrosis among pregnant women: a pilot study.

Schwartz M, Brandt NJ, Skovby F. Schwartz M, et al. Among authors: skovby f. Eur J Hum Genet. 1993;1(3):239-44. doi: 10.1159/000472417. Eur J Hum Genet. 1993. PMID: 8044649

3

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RK, Jensen UG, Cohen A, Larsen N, Saugmann-Jensen P, Gregersen N, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B. Lund AM, et al. Among authors: skovby f. Mol Genet Metab. 2012 Nov;107(3):281-93. doi: 10.1016/j.ymgme.2012.06.006. Epub 2012 Jun 21. Mol Genet Metab. 2012. PMID: 22795865

4

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

5

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.

Kjaergaard S, Skovby F, Schwartz M. Kjaergaard S, et al. Among authors: skovby f. Eur J Hum Genet. 1999 Dec;7(8):884-8. doi: 10.1038/sj.ejhg.5200398. Eur J Hum Genet. 1999. PMID: 10602363

6

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.

Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F. Andresen BS, et al. Among authors: skovby f. Am J Hum Genet. 2000 Nov;67(5):1095-103. doi: 10.1086/303105. Epub 2000 Sep 29. Am J Hum Genet. 2000. PMID: 11013134 Free PMC article.

7

Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening.

Simonsen H, Jensen UG, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B. Simonsen H, et al. Among authors: skovby f. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:166-9. Southeast Asian J Trop Med Public Health. 1999. PMID: 11400760

8

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

9

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

10

Psychological and social impact of carrier screening for cystic fibrosis among pregnant woman--a pilot study.

Clausen H, Brandt NJ, Schwartz M, Skovby F. Clausen H, et al. Among authors: skovby f. Clin Genet. 1996 Apr;49(4):200-5. doi: 10.1111/j.1399-0004.1996.tb03287.x. Clin Genet. 1996. PMID: 8828986

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