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Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.
Stibler H, Stephani U, Kutsch U. Stibler H, et al. Neuropediatrics. 1995 Oct;26(5):235-7. doi: 10.1055/s-2007-979762. Neuropediatrics. 1995. PMID: 8552211
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. Among authors: stibler h. Eur J Hum Genet. 1998 Nov-Dec;6(6):603-11. doi: 10.1038/sj.ejhg.5200234. Eur J Hum Genet. 1998. PMID: 9887379
[Jaeken's (CDG) syndrome in two sisters].
Midro AT, Hanefeld F, Zadrozna-Tołwińska B, Stibler H, Olchowik B, Stasiewicz-Jarocka B. Midro AT, et al. Among authors: stibler h. Pediatr Pol. 1996 Jul;71(7):621-8. Pediatr Pol. 1996. PMID: 8803467 Polish.
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: stibler h. Hum Genet. 2001 May;108(5):359-67. doi: 10.1007/s004390100489. Hum Genet. 2001. PMID: 11409861
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. Among authors: stibler h. 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
Sialyltransferase activity in erythrocyte membranes and serum in patients with myotonic dystrophy.
Stibler H, Sydow O. Stibler H, et al. Acta Neurol Scand. 1988 Oct;78(4):278-81. doi: 10.1111/j.1600-0404.1988.tb03657.x. Acta Neurol Scand. 1988. PMID: 3223222
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. Among authors: stibler h. Genomics. 1997 Feb 1;39(3):247-53. doi: 10.1006/geno.1996.4488. Genomics. 1997. PMID: 9119361
Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome.
García Silva MT, de Castro J, Stibler H, Simón R, Chasco Yrigoyen A, Mateos F, Ferrer I, Madero S, Velasco JM, Guttierrez-Larraya F. García Silva MT, et al. Among authors: stibler h. J Inherit Metab Dis. 1996;19(2):257-9. doi: 10.1007/BF01799444. J Inherit Metab Dis. 1996. PMID: 8739980 No abstract available.
Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.
Pineda M, Pavia C, Vilaseca MA, Ferrer I, Temudo T, Chabas A, Stibler H, Jaeken J. Pineda M, et al. Among authors: stibler h. Arch Dis Child. 1996 Mar;74(3):242-3. doi: 10.1136/adc.74.3.242. Arch Dis Child. 1996. PMID: 8787432 Free PMC article.
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Erlandson A, Stibler H, Kristiansson B, Wahlström J, Martinsson T. Erlandson A, et al. Among authors: stibler h. Genet Test. 2000;4(3):293-7. doi: 10.1089/10906570050501533. Genet Test. 2000. PMID: 11142762
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