138 related articles for article (PubMed ID: 36142510)
1. Case Report: Compound Heterozygous Variants of the
Zhalsanova IZ; Ravzhaeva EG; Postrigan AE; Seitova GN; Zhigalina DI; Udalova VY; Danina MM; Kanivets IV; Skryabin NA
Int J Mol Sci; 2022 Sep; 23(18):. PubMed ID: 36142510
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. MAN1B1-CDG: novel patients and novel variant.
Kasapkara CS; Olgac A; Kilic M; Keldermans L; Matthijs G; Jaeken J
J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1207-1209. PubMed ID: 34162022
[TBL] [Abstract][Full Text] [Related]
4. MAN1B1 deficiency: an unexpected CDG-II.
Rymen D; Peanne R; Millón MB; Race V; Sturiale L; Garozzo D; Mills P; Clayton P; Asteggiano CG; Quelhas D; Cansu A; Martins E; Nassogne MC; Gonçalves-Rocha M; Topaloglu H; Jaeken J; Foulquier F; Matthijs G
PLoS Genet; 2013; 9(12):e1003989. PubMed ID: 24348268
[TBL] [Abstract][Full Text] [Related]
5. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Van Scherpenzeel M; Timal S; Rymen D; Hoischen A; Wuhrer M; Hipgrave-Ederveen A; Grunewald S; Peanne R; Saada A; Edvardson S; Grønborg S; Ruijter G; Kattentidt-Mouravieva A; Brum JM; Freckmann ML; Tomkins S; Jalan A; Prochazkova D; Ondruskova N; Hansikova H; Willemsen MA; Hensbergen PJ; Matthijs G; Wevers RA; Veltman JA; Morava E; Lefeber DJ
Brain; 2014 Apr; 137(Pt 4):1030-8. PubMed ID: 24566669
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles.
Okamoto N; Ohto T; Enokizono T; Wada Y; Kohmoto T; Imoto I; Haga Y; Seino J; Suzuki T
Cells; 2021 Nov; 10(11):. PubMed ID: 34831340
[TBL] [Abstract][Full Text] [Related]
8. A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.
Xue Y; Zhao Y; Wu B; Shu J; Yan D; Li D; Yu X; Cai C
Mol Genet Genomic Med; 2023 Aug; 11(8):e2197. PubMed ID: 37204045
[TBL] [Abstract][Full Text] [Related]
9. Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).
Li G; Xu Y; Hu X; Li N; Yao R; Yu T; Wang X; Guo W; Wang J
Eur J Med Genet; 2019 Jan; 62(1):44-46. PubMed ID: 29709711
[TBL] [Abstract][Full Text] [Related]
10. [Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].
Ren C; Fang F; Huang Y; Cheng H; Dai L
Zhonghua Er Ke Za Zhi; 2015 Dec; 53(12):938-42. PubMed ID: 26887550
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
Li M; Xu Y; Wang Y; Yang XA; Jin D
J Hum Genet; 2019 Mar; 64(3):265-268. PubMed ID: 30587846
[TBL] [Abstract][Full Text] [Related]
13. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
Gupta S; Fahiminiya S; Wang T; Dempsey Nunez L; Rosenblatt DS; Gibson WT; Gilfix B; Bergeron JJ; Jerome-Majewska LA
Cold Spring Harb Mol Case Stud; 2016 May; 2(3):a000737. PubMed ID: 27148587
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review.
Manoochehri J; Kamal N; Khamirani HJ; Zoghi S; Haghighi MF; Goodarzi HR; Bagher Tabei SM
Eur J Med Genet; 2022 Aug; 65(8):104535. PubMed ID: 35718084
[TBL] [Abstract][Full Text] [Related]
16. MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
Hoffjan S; Epplen JT; Reis A; Abou Jamra R
Mol Syndromol; 2015 Jul; 6(2):58-62. PubMed ID: 26279649
[TBL] [Abstract][Full Text] [Related]
17. N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.
Saldova R; Stöckmann H; O'Flaherty R; Lefeber DJ; Jaeken J; Rudd PM
J Proteome Res; 2015 Oct; 14(10):4402-12. PubMed ID: 26401844
[TBL] [Abstract][Full Text] [Related]
18. COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L; Bianchi P; Sturiale L; Garozzo D; Mangili G; Keldermans L; Rizzo R; Matthijs G; Fiumara A; Jaeken J; Barone R
Birth Defects Res; 2022 Mar; 114(5-6):165-174. PubMed ID: 35068072
[TBL] [Abstract][Full Text] [Related]
19. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
Anzai R; Tsuji M; Yamashita S; Wada Y; Okamoto N; Saitsu H; Matsumoto N; Goto T
Brain Dev; 2021 Mar; 43(3):402-410. PubMed ID: 33261925
[TBL] [Abstract][Full Text] [Related]
20. The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.
Fernlund E; Andersson O; Ellegård R; Årstrand HK; Green H; Olsson H; Gunnarsson C
Forensic Sci Int Genet; 2019 Nov; 43():102111. PubMed ID: 31563034
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]