These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

232 related articles for article (PubMed ID: 12357336)

  • 1. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
    Schollen E; Martens K; Geuzens E; Matthijs G
    Eur J Hum Genet; 2002 Oct; 10(10):643-8. PubMed ID: 12357336
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.
    Eklund EA; Merbouh N; Ichikawa M; Nishikawa A; Clima JM; Dorman JA; Norberg T; Freeze HH
    Glycobiology; 2005 Nov; 15(11):1084-93. PubMed ID: 16079417
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
    Schollen E; Keldermans L; Foulquier F; Briones P; Chabas A; Sánchez-Valverde F; Adamowicz M; Pronicka E; Wevers R; Matthijs G
    Mol Genet Metab; 2007 Apr; 90(4):408-13. PubMed ID: 17307006
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
    Haeuptle MA; Hennet T
    Hum Mutat; 2009 Dec; 30(12):1628-41. PubMed ID: 19862844
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
    Grubenmann CE; Frank CG; Hülsmeier AJ; Schollen E; Matthijs G; Mayatepek E; Berger EG; Aebi M; Hennet T
    Hum Mol Genet; 2004 Mar; 13(5):535-42. PubMed ID: 14709599
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
    Westphal V; Kjaergaard S; Schollen E; Martens K; Grunewald S; Schwartz M; Matthijs G; Freeze HH
    Hum Mol Genet; 2002 Mar; 11(5):599-604. PubMed ID: 11875054
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.
    Quelhas D; Quental R; Vilarinho L; Amorim A; Azevedo L
    Ann Hum Genet; 2007 May; 71(Pt 3):348-53. PubMed ID: 17166182
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
    Vega AI; Pérez-Cerdá C; Desviat LR; Matthijs G; Ugarte M; Pérez B
    Hum Mutat; 2009 May; 30(5):795-803. PubMed ID: 19235233
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    Hum Mutat; 2000 Nov; 16(5):386-94. PubMed ID: 11058895
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    Hum Mutat; 2000 Nov; 16(5):395-400. PubMed ID: 11058896
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PMM2 intronic branch-site mutations in CDG-Ia.
    Vuillaumier-Barrot S; Le Bizec C; De Lonlay P; Madinier-Chappat N; Barnier A; Dupré T; Durand G; Seta N
    Mol Genet Metab; 2006 Apr; 87(4):337-40. PubMed ID: 16376131
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.
    Mills K; Mills P; Jackson M; Worthington V; Beesley C; Mann A; Clayton P; Grunewald S; Keir G; Young L; Langridge J; Mian N; Winchester B
    Proteomics; 2006 Apr; 6(7):2295-304. PubMed ID: 16552784
    [TBL] [Abstract][Full Text] [Related]  

  • 13. PMM2-CDG: phenotype and genotype in four affected family members.
    Bortot B; Cosentini D; Faletra F; Biffi S; De Martino E; Carrozzi M; Severini GM
    Gene; 2013 Dec; 531(2):506-9. PubMed ID: 23988505
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The prenatal diagnosis of congenital disorders of glycosylation (CDG).
    Matthijs G; Schollen E; Van Schaftingen E
    Prenat Diagn; 2004 Feb; 24(2):114-6. PubMed ID: 14974118
    [No Abstract]   [Full Text] [Related]  

  • 15. An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).
    Denecke J; Kranz C; Kemming D; Koch HG; Marquardt T
    Hum Mutat; 2004 May; 23(5):477-86. PubMed ID: 15108280
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A new insight into PMM2 mutations in the French population.
    Le Bizec C; Vuillaumier-Barrot S; Barnier A; Dupré T; Durand G; Seta N
    Hum Mutat; 2005 May; 25(5):504-5. PubMed ID: 15844218
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    Genet Test; 2000; 4(3):293-7. PubMed ID: 11142762
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
    Imbach T; Grünewald S; Schenk B; Burda P; Schollen E; Wevers RA; Jaeken J; de Klerk JB; Berger EG; Matthijs G; Aebi M; Hennet T
    Hum Genet; 2000 May; 106(5):538-45. PubMed ID: 10914684
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).
    Vleugels W; Duvet S; Peanne R; Mir AM; Cacan R; Michalski JC; Matthijs G; Foulquier F
    Biochimie; 2011 May; 93(5):823-33. PubMed ID: 21315133
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).
    Biffi S; Tamaro G; Bortot B; Zamberlan S; Severini GM; Carrozzi M
    Clin Biochem; 2007 Dec; 40(18):1431-4. PubMed ID: 17920054
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.