332 related articles for article (PubMed ID: 23249953)
1. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z; Shahzad M; Vissers LE; van Scherpenzeel M; Gilissen C; Razzaq A; Zahoor MY; Khan SN; Kleefstra T; Veltman JA; de Brouwer AP; Lefeber DJ; van Bokhoven H; Riazuddin S
Eur J Hum Genet; 2013 Aug; 21(8):844-9. PubMed ID: 23249953
[TBL] [Abstract][Full Text] [Related]
2. Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
Würde AE; Reunert J; Rust S; Hertzberg C; Haverkämper S; Nürnberg G; Nürnberg P; Lehle L; Rossi R; Marquardt T
Mol Genet Metab; 2012 Apr; 105(4):634-41. PubMed ID: 22304930
[TBL] [Abstract][Full Text] [Related]
3. Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
Hamici S; Bastaki F; Khalifa M
Eur J Med Genet; 2017 Oct; 60(10):541-547. PubMed ID: 28778787
[TBL] [Abstract][Full Text] [Related]
4. Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
Ganetzky R; Izumi K; Edmondson A; Muraresku CC; Zackai E; Deardorff M; Ganesh J
Am J Med Genet A; 2015 Oct; 167A(10):2411-7. PubMed ID: 26033833
[TBL] [Abstract][Full Text] [Related]
5. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
[TBL] [Abstract][Full Text] [Related]
6. DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype.
Carrera IA; Matthijs G; Perez B; Cerdá CP
Am J Med Genet A; 2012 Aug; 158A(8):2027-30. PubMed ID: 22786653
[TBL] [Abstract][Full Text] [Related]
7. DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.
Yuste-Checa P; Vega AI; Martín-Higueras C; Medrano C; Gámez A; Desviat LR; Ugarte M; Pérez-Cerdá C; Pérez B
PLoS One; 2017; 12(6):e0179456. PubMed ID: 28662078
[TBL] [Abstract][Full Text] [Related]
8. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
de la Morena-Barrio ME; Sabater M; de la Morena-Barrio B; Ruhaak RL; Miñano A; Padilla J; Toderici M; Roldán V; Gimeno JR; Vicente V; Corral J
Mol Genet Genomic Med; 2020 Aug; 8(8):e1304. PubMed ID: 32530140
[TBL] [Abstract][Full Text] [Related]
9. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
Gadomski TE; Bolton M; Alfadhel M; Dvorak C; Ogunsakin OA; Nelson SL; Morava E
Am J Med Genet A; 2017 Oct; 173(10):2772-2775. PubMed ID: 28777499
[TBL] [Abstract][Full Text] [Related]
10. Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.
Yang A; Cho SY; Jang JH; Kim J; Kim SZ; Lee BH; Yoo HW; Jin DK
Clin Chim Acta; 2017 Aug; 471():191-195. PubMed ID: 28619360
[TBL] [Abstract][Full Text] [Related]
11. Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Rimella-Le-Huu A; Henry H; Kern I; Hanquinet S; Roulet-Perez E; Newman CJ; Superti-Furga A; Bonafé L; Ballhausen D
J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S381-6. PubMed ID: 18679822
[TBL] [Abstract][Full Text] [Related]
12. Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.
Imtiaz F; Al-Mostafa A; Al-Hassnan ZN
JIMD Rep; 2012; 2():107-11. PubMed ID: 23430862
[TBL] [Abstract][Full Text] [Related]
13. MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.
Balasubramanian M; Johnson DS;
Eur J Med Genet; 2019 Feb; 62(2):109-114. PubMed ID: 29908352
[TBL] [Abstract][Full Text] [Related]
14. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
[TBL] [Abstract][Full Text] [Related]
15. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji A; Bruun TU; Sidky S; Cordeiro D; Cohn RD; Mendoza-Londono R; Moharir M; Raiman J; Siriwardena K; Kyriakopoulou L; Mercimek-Mahmutoglu S
Mol Genet Metab; 2017 Mar; 120(3):235-242. PubMed ID: 28122681
[TBL] [Abstract][Full Text] [Related]
16. DPAGT1-CDG: Recurrent fetal death.
Tao H; Sun Y; Zhai J; Wu J
Birth Defects Res; 2023 Aug; 115(13):1185-1191. PubMed ID: 37421173
[TBL] [Abstract][Full Text] [Related]
17. Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Papazoglu GM; Cubilla M; Pereyra M; de Kremer RD; Pérez B; Sturiale L; Asteggiano CG
Glycoconj J; 2021 Apr; 38(2):191-200. PubMed ID: 33644825
[TBL] [Abstract][Full Text] [Related]
18. ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L; Bianca S; Garozzo D; Terracciano A; Agolini E; Messina A; Palmigiano A; Esposito F; Barone C; Novelli A; Fiumara A; Jaeken J; Barone R
Glycoconj J; 2019 Dec; 36(6):461-472. PubMed ID: 31529350
[TBL] [Abstract][Full Text] [Related]
19. Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
Bryant EM; Millichap JJ; Spinelli E; Calhoun JD; Miller C; Giannelli J; Wolak J; Sanders V; Carvill GL; Charrow J
Am J Med Genet A; 2020 Jun; 182(6):1460-1465. PubMed ID: 32267060
[TBL] [Abstract][Full Text] [Related]
20. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Hiraide T; Wada Y; Matsubayashi T; Kadoya M; Masunaga Y; Ohkubo Y; Nakashima M; Okamoto N; Ogata T; Saitsu H
Brain Dev; 2021 Oct; 43(9):945-951. PubMed ID: 34092405
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
