Search Results - "Bjursell, C."

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

“…The PMM2 gene, which is defective in CDG‐Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [Matthijs et al.,…”
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Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations by ERLANDSON, Anna, BJURSELL, Cecilia, STIBLER, Helena, KRISTIANSSON, Bengt, WAHLSTRÖM, Jan, MARTINSSON, Tommy

“…Congenital disorders of glycosylation type Ia, (previous name carbohydrate-deficient glycoprotein syndrome type Ia; CDG-Ia) is an inherited disorder of the…”
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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG by 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, Fabritz, L, Hasilik, M, Marquardt, T, Niehues, R, Freeze, H, Grünewald, S, Heykants, L, Jaeken, J, Matthijs, G, Schollen, E, Xkeir, G Keir, Kjaergaard, S, Schwartz, M, Skovby, F, Klein, A, Roussel, P, Körner, C, Lübke, T, Thiel, C, von Figura, K, Koscielak, J, Krasnewich, D, Lehle, L, Peters, V, Raab, M, Saether, O, Schachter, H, Van Schaftingen, E, Verbert, A, Vilaseca, A, Wevers, R, Yamashita, K

“…During the last few years, progress in identifying the molecular defects of the carbohydrate-deficient glycoprotein syndromes has been very rapid. Up to this…”
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Fine Mapping of the Gene for Carbohydrate-Deficient Glycoprotein Syndrome, Type I (CDG1): Linkage Disequilibrium and Founder Effect in Scandinavian Families by Bjursell, Cecilia, Stibler, Helena, Wahlström, Jan, Kristiansson, Bengt, Skovby, Flemming, Strömme, Petter, Blennow, Gösta, Martinsson, Tommy

“…Carbohydrate-deficient glycoprotein syndrome type I (CDG I) is characterized clinically by severe nervous system involvement and biochemically by defects in…”
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PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families by Bjursell, Cecilia, Erlandson, Anna, Nordling, Margareta, Nilsson, Staffan, Wahlström, Jan, Stibler, Helena, Kristiansson, Bengt, Martinsson, Tommy

“…Carbohydrate‐deficient glycoprotein syndrome type IA (CDG IA) is an autosomal recessive disease characterized clinically by severe involvement of the central…”
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Scandinavian CDG-la patients: genotype/phenotype correlation and geographic origin of founder mutations by Erlandson, A, Bjursell, C, Stibler, H, Kristiansson, B, Wahlstroem, J, Martinsson, T

“…Congenital disorders of glycosylation type la, (previous name carbohydrate-deficient glycoprotein syndrome type la; CDG-la) is an inherited disorder of the…”
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Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families by Bjursell, C, Wahlström, J, Berg, K, Stibler, H, Kristiansson, B, Matthijs, G, Martinsson, T

“…The gene for carbohydrate-deficient glycoprotein syndrome type I (CDG1) has previously been localised by us close to marker D16S406 in chromosome region…”
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Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406 by Martinsson, T, Bjursell, C, Stibler, H, Kristiansson, B, Skovby, F, Jaeken, J, Blennow, G, Strömme, P, Hanefeld, F, Wahlström, J

“…Carbohydrate-deficient glycoprotein syndrome type I is a multisystem disease with early severe nervous system involvement. The disease, which is inherited as…”
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The Two-Exon Gene of the Human Forkhead Transcription Factor FREAC-2 (FKHL6) Is Located at 6p25.3 by Blixt, Åsa, Mahlapuu, Margit, Bjursell, Cecilia, Darnfors, Catarina, Johannesson, Tonnie, Enerbäck, Sven, Carlsson, Peter

“…The gene for the human transcription factor forkhead related activator 2 (FREAC-2; HGMW-approved symbol FKHL6) has been characterized and found to consist of…”
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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS by Aebi, M, Helenius, A, Schenk, B, Barone, R, Fiumara, A, Berger, E G, Hennet, T, Imbach, T, Stutz, A, Bjursell, C, Uller, A, Wahlström, J G, 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

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