Knappskog PM - Search Results

1

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.

Melone MA, Pellegrino MJ, Nolano M, Habecker BA, Johansson S, Nathanson NM, Knappskog PM, Hahn AF, Boman H. Melone MA, et al. Among authors: knappskog pm. Ann Clin Transl Neurol. 2014 Nov;1(11):926-32. doi: 10.1002/acn3.126. Epub 2014 Oct 24. Ann Clin Transl Neurol. 2014. PMID: 25540807 Free PMC article.

2

A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.

Eiken HG, Knappskog PM, Apold J, Skjelkvåle L, Boman H. Eiken HG, et al. Among authors: knappskog pm. Hum Mutat. 1992;1(5):388-91. doi: 10.1002/humu.1380010507. Hum Mutat. 1992. PMID: 1301947

3

PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

Eiken HG, Stangeland K, Skjelkvåle L, Knappskog PM, Boman H, Apold J. Eiken HG, et al. Among authors: knappskog pm. Hum Genet. 1992 Mar;88(6):608-12. doi: 10.1007/BF02265283. Hum Genet. 1992. PMID: 1312992

4

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Olsen TC, Eiken HG, Knappskog PM, Kase BF, Månsson JE, Boman H, Apold J. Olsen TC, et al. Among authors: knappskog pm. Hum Genet. 1996 Feb;97(2):198-203. doi: 10.1007/BF02265265. Hum Genet. 1996. PMID: 8566953

5

Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

Eiken HG, Knappskog PM, Motzfeldt K, Boman H, Apold J. Eiken HG, et al. Among authors: knappskog pm. Eur J Pediatr. 1996 Jul;155(7):554-60. doi: 10.1007/BF01957904. Eur J Pediatr. 1996. PMID: 8831077

6

Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway.

Eiken HG, Knappskog PM, Boman H, Thune KS, Kaada G, Motzfeldt K, Apold J. Eiken HG, et al. Among authors: knappskog pm. Eur J Hum Genet. 1996;4(4):205-13. doi: 10.1159/000472200. Eur J Hum Genet. 1996. PMID: 8875186

7

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard.

Bruland O, Almqvist EW, Goldberg YP, Boman H, Hayden MR, Knappskog PM. Bruland O, et al. Among authors: knappskog pm. Clin Genet. 1999 Mar;55(3):198-202. doi: 10.1034/j.1399-0004.1999.550308.x. Clin Genet. 1999. PMID: 10334474

8

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.

Knappskog PM, Majewski J, Livneh A, Nilsen PT, Bringsli JS, Ott J, Boman H. Knappskog PM, et al. Am J Hum Genet. 2003 Feb;72(2):375-83. doi: 10.1086/346120. Epub 2002 Dec 31. Am J Hum Genet. 2003. PMID: 12509788 Free PMC article.

9

Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.

Bredrup C, Knappskog PM, Majewski J, Rødahl E, Boman H. Bredrup C, et al. Among authors: knappskog pm. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):420-6. doi: 10.1167/iovs.04-0804. Invest Ophthalmol Vis Sci. 2005. PMID: 15671264

10

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.

Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H. Rousseau F, et al. Among authors: knappskog pm. Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10068-73. doi: 10.1073/pnas.0509598103. Epub 2006 Jun 16. Proc Natl Acad Sci U S A. 2006. PMID: 16782820 Free PMC article.

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