234 related articles for article (PubMed ID: 10922383)
1. 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]
2. Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.
Westphal V; Peterson S; Patterson M; Tournay A; Blumenthal A; Treacy EP; Freeze HH
Genet Med; 2001; 3(6):393-8. PubMed ID: 11715002
[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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. The Analysis of Variants in the General Population Reveals That
Citro V; Cimmaruta C; Monticelli M; Riccio G; Hay Mele B; Cubellis MV; Andreotti G
Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30061496
[TBL] [Abstract][Full Text] [Related]
10. [Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].
Sätilä H; Kuusela AL; Pietilä K; Niinikoski H; Keskinen P
Duodecim; 2016; 132(3):253-9. PubMed ID: 26951030
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.
Chan B; Clasquin M; Smolen GA; Histen G; Powe J; Chen Y; Lin Z; Lu C; Liu Y; Cang Y; Yan Z; Xia Y; Thompson R; Singleton C; Dorsch M; Silverman L; Su SM; Freeze HH; Jin S
Hum Mol Genet; 2016 Jun; 25(11):2182-2193. PubMed ID: 27053713
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation.
Thong MK; Fietz M; Nicholls C; Lee MH; Asma O
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S41-4. PubMed ID: 19165618
[TBL] [Abstract][Full Text] [Related]
15. A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
Barone R; Carrozzi M; Parini R; Battini R; Martinelli D; Elia M; Spada M; Lilliu F; Ciana G; Burlina A; Leuzzi V; Leoni M; Sturiale L; Matthijs G; Jaeken J; Di Rocco M; Garozzo D; Fiumara A
J Neurol; 2015 Jan; 262(1):154-64. PubMed ID: 25355454
[TBL] [Abstract][Full Text] [Related]
16. Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.
Andreotti G; Monti MC; Citro V; Cubellis MV
PLoS One; 2015; 10(10):e0139882. PubMed ID: 26488408
[TBL] [Abstract][Full Text] [Related]
17. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
Drouin-Garraud V; Belgrand M; Grünewald S; Seta N; Dacher JN; Hénocq A; Matthijs G; Cormier-Daire V; Frébourg T; Saugier-Veber P
Am J Med Genet; 2001 Jun; 101(1):46-9. PubMed ID: 11343337
[TBL] [Abstract][Full Text] [Related]
18. Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.
Barone R; Sturiale L; Sofia V; Ignoto A; Fiumara A; Sorge G; Garozzo D; Zappia M
Am J Med Genet A; 2008 Aug; 146A(16):2103-8. PubMed ID: 18629883
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).
Schollen E; Kjaergaard S; Legius E; Schwartz M; Matthijs G
Eur J Hum Genet; 2000 May; 8(5):367-71. PubMed ID: 10854097
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
