Bjursell C - Search Results

1

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N, Vuillaumier-Barrot S, Westphal V, Winchester B. Matthijs G, et al. Among authors: bjursell c. Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y. Hum Mutat. 2000. PMID: 11058895

2

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlström J, Stibler H, Kristiansson B, Martinsson T. Bjursell C, et al. Hum Mutat. 2000 Nov;16(5):395-400. doi: 10.1002/1098-1004(200011)16:5<395::AID-HUMU3>3.0.CO;2-T. Hum Mutat. 2000. PMID: 11058896

3

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.

Erlandson A, Bjursell C, Stibler H, Kristiansson B, Wahlström J, Martinsson T. Erlandson A, et al. Among authors: bjursell c. Hum Genet. 2001 May;108(5):359-67. doi: 10.1007/s004390100489. Hum Genet. 2001. PMID: 11409861

4

Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.

Bjursell C, Wahlström J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T. Bjursell C, et al. Eur J Hum Genet. 1998 Nov-Dec;6(6):603-11. doi: 10.1038/sj.ejhg.5200234. Eur J Hum Genet. 1998. PMID: 9887379

5

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.

Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, Hennet T, Imbach T, Stutz A, Bjursell C, Uller A, Wahlström JG, Briones P, Cardo E, Clayton P, Winchester B, Cormier-Dalre V, de Lonlay P, Cuer M, Dupré T, Seta N, de Koning T, Dorland L, de Loos F, Kupers L, et al. Aebi M, et al. Among authors: bjursell c. Glycoconj J. 1999 Nov;16(11):669-71. doi: 10.1023/a:1017249723165. Glycoconj J. 1999. PMID: 11003549 No abstract available.

6

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families.

Bjursell C, Stibler H, Wahlström J, Kristiansson B, Skovby F, Strömme P, Blennow G, Martinsson T. Bjursell C, et al. Genomics. 1997 Feb 1;39(3):247-53. doi: 10.1006/geno.1996.4488. Genomics. 1997. PMID: 9119361

7

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

Martinsson T, Bjursell C, Stibler H, Kristiansson B, Skovby F, Jaeken J, Blennow G, Strömme P, Hanefeld F, Wahlström J. Martinsson T, et al. Among authors: bjursell c. Hum Mol Genet. 1994 Nov;3(11):2037-42. Hum Mol Genet. 1994. PMID: 7874123

8

Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western Sweden.

Einbeigi Z, Bergman A, Meis-Kindblom JM, Flodin A, Bjursell C, Martinsson T, Kindblom LG, Wahlström J, Wallgren A, Nordling M, Karlsson P. Einbeigi Z, et al. Among authors: bjursell c. Fam Cancer. 2007;6(1):35-41. doi: 10.1007/s10689-006-9101-0. Fam Cancer. 2007. PMID: 16944270

9

The two-exon gene of the human forkhead transcription factor FREAC-2 (FKHL6) is located at 6p25.3.

Blixt A, Mahlapuu M, Bjursell C, Darnfors C, Johannesson T, Enerbäck S, Carlsson P. Blixt A, et al. Among authors: bjursell c. Genomics. 1998 Nov 1;53(3):387-90. doi: 10.1006/geno.1998.5451. Genomics. 1998. PMID: 9799607

10

Older workers and extended working life - Managers' experiences and age management.

Carlstedt AB, Bjursell C, Nyman R, Dahl Aslan A. Carlstedt AB, et al. Among authors: bjursell c. Work. 2024;79(3):1323-1331. doi: 10.3233/WOR-230468. Work. 2024. PMID: 38820043 Free PMC article.

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