BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

64 related articles for article (PubMed ID: 10571956)

  • 1. Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.
    Vuillaumier-Barrot S; Barnier A; Cuer M; Durand G; Grandchamp B; Seta N
    Hum Mutat; 1999 Dec; 14(6):543-4. PubMed ID: 10571956
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
    Vega AI; Pérez-Cerdá C; Abia D; Gámez A; Briones P; Artuch R; Desviat LR; Ugarte M; Pérez B
    J Inherit Metab Dis; 2011 Aug; 34(4):929-39. PubMed ID: 21541725
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
    Briones P; Vilaseca MA; Schollen E; Ferrer I; Maties M; Busquets C; Artuch R; Gort L; Marco M; van Schaftingen E; Matthijs G; Jaeken J; Chabás A
    J Inherit Metab Dis; 2002 Dec; 25(8):635-46. PubMed ID: 12705494
    [TBL] [Abstract][Full Text] [Related]  

  • 8. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
    Grünewald S; Schollen E; Van Schaftingen E; Jaeken J; Matthijs G
    Am J Hum Genet; 2001 Feb; 68(2):347-54. PubMed ID: 11156536
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
    Matthijs G; Schollen E; Pardon E; Veiga-Da-Cunha M; Jaeken J; Cassiman JJ; Van Schaftingen E
    Nat Genet; 1997 May; 16(1):88-92. PubMed ID: 9140401
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.
    Yuste-Checa P; Gámez A; Brasil S; Desviat LR; Ugarte M; Pérez-Cerdá C; Pérez B
    Hum Mutat; 2015 Sep; 36(9):851-60. PubMed ID: 26014514
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
    Pérez-Dueñas B; García-Cazorla A; Pineda M; Poo P; Campistol J; Cusí V; Schollen E; Matthijs G; Grunewald S; Briones P; Pérez-Cerdá C; Artuch R; Vilaseca MA
    Eur J Paediatr Neurol; 2009 Sep; 13(5):444-51. PubMed ID: 18948042
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.
    Westphal V; Enns GM; McCracken MF; Freeze HH
    Mol Genet Metab; 2001 May; 73(1):71-6. PubMed ID: 11350185
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.
    Vuillaumier-Barrot S; Hetet G; Barnier A; Dupré T; Cuer M; de Lonlay P; Cormier-Daire V; Durand G; Grandchamp B; Seta N
    J Med Genet; 2000 Aug; 37(8):579-80. PubMed ID: 10922383
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
    Kjaergaard S; Skovby F; Schwartz M
    Eur J Hum Genet; 1998; 6(4):331-6. PubMed ID: 9781039
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).
    Romano S; Bajolle F; Valayannopoulos V; Lyonnet S; Colomb V; de Baracé C; Vouhe P; Pouard P; Vuillaumier-Barrot S; Dupré T; de Keyzer Y; Sidi D; Seta N; Bonnet D; de Lonlay P
    J Med Genet; 2009 Apr; 46(4):287-8. PubMed ID: 19357119
    [No Abstract]   [Full Text] [Related]  

  • 19. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.
    Yıldız Y; Arslan M; Çelik G; Kasapkara ÇS; Ceylaner S; Dursun A; Sivri HS; Coşkun T; Tokatlı A
    Am J Med Genet A; 2020 Apr; 182(4):705-712. PubMed ID: 31981409
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
    Abu Bakar N; Lefeber DJ; van Scherpenzeel M
    J Inherit Metab Dis; 2018 May; 41(3):499-513. PubMed ID: 29497882
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.