152 related articles for article (PubMed ID: 10571956)
21. 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]
22. Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
Lao JP; DiPrimio N; Prangley M; Sam FS; Mast JD; Perlstein EO
G3 (Bethesda); 2019 Feb; 9(2):413-423. PubMed ID: 30530630
[TBL] [Abstract][Full Text] [Related]
23. Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances.
van Ommen CH; Peters M; Barth PG; Vreken P; Wanders RJ; Jaeken J
J Pediatr; 2000 Mar; 136(3):400-3. PubMed ID: 10700701
[TBL] [Abstract][Full Text] [Related]
24. [Molecular diagnosis of congenital disorders of glycosylation].
Vuillaumier-Barrot S
Ann Biol Clin (Paris); 2005; 63(2):135-43. PubMed ID: 15771971
[TBL] [Abstract][Full Text] [Related]
25. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
Zatkova A; Messiaen L; Vandenbroucke I; Wieser R; Fonatsch C; Krainer AR; Wimmer K
Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.
Jamroz E; Adamek D; Paprocka J; Adamowicz M; Marszał E; Wevers RA
J Child Neurol; 2009 Jan; 24(1):13-8. PubMed ID: 19168813
[TBL] [Abstract][Full Text] [Related]
28. Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Schollen E; Dorland L; de Koning TJ; Van Diggelen OP; Huijmans JG; Marquardt T; Babovic-Vuksanovic D; Patterson M; Imtiaz F; Winchester B; Adamowicz M; Pronicka E; Freeze H; Matthijs G
Hum Mutat; 2000 Sep; 16(3):247-52. PubMed ID: 10980531
[TBL] [Abstract][Full Text] [Related]
29. An AciI polymorphism in the 3' untranslated region of the human phosphomannomutase 2 (PMM2) gene.
Mizugishi K; Kuwajima K; Obata K; Kondo I
J Hum Genet; 1999; 44(4):266-7. PubMed ID: 10429369
[TBL] [Abstract][Full Text] [Related]
30. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Matthijs G; Schollen E; Van Schaftingen E; Cassiman JJ; Jaeken J
Am J Hum Genet; 1998 Mar; 62(3):542-50. PubMed ID: 9497260
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.
Burda P; Borsig L; de Rijk-van Andel J; Wevers R; Jaeken J; Carchon H; Berger EG; Aebi M
J Clin Invest; 1998 Aug; 102(4):647-52. PubMed ID: 9710431
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
Cromphout K; Keldermans L; Snellinx A; Collet JF; Grünewald S; De Geest N; Sciot R; Vanschaftingen E; Jaeken J; Matthijs G; Hartmann D
Eur J Neurosci; 2005 Aug; 22(4):991-6. PubMed ID: 16115222
[TBL] [Abstract][Full Text] [Related]
35. Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes.
Pirard M; Achouri Y; Collet JF; Schollen E; Matthijs G; Van Schaftingen E
Biochem J; 1999 Apr; 339 ( Pt 1)(Pt 1):201-7. PubMed ID: 10085245
[TBL] [Abstract][Full Text] [Related]
36. 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
Hum Genet; 2001 May; 108(5):359-67. PubMed ID: 11409861
[TBL] [Abstract][Full Text] [Related]
37. [Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia].
Honzík T; Malonová E; Hansíková H; Rosipal R; Poupĕtová H; Martásek P; Zeman J
Cas Lek Cesk; 2003; 142(5):276-9. PubMed ID: 12920791
[TBL] [Abstract][Full Text] [Related]
38. ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.
Shotelersuk V; Desudchit T; Tongkobpetch S
Int J Mol Med; 2004 Oct; 14(4):683-9. PubMed ID: 15375602
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]
