Similar articles for PMID: 22305527

Year	Number of Results
1999	1
2000	3
2001	8
2002	1
2003	2
2004	1
2005	2
2007	2
2008	2
2009	1
2010	3
2011	7
2012	15
2013	18
2014	10
2015	7
2016	7
2017	13
2018	10
2019	13
2020	14
2021	26
2022	21
2023	15
2024	0

1

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR. Jones MA, et al. Am J Hum Genet. 2012 Feb 10;90(2):363-8. doi: 10.1016/j.ajhg.2011.12.024. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305527 Free PMC article.

2

The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.

Pi S, Gong J, Xiao W, Xiao B, Mao X, Long H. Pi S, et al. J Hum Genet. 2022 Feb;67(2):103-106. doi: 10.1038/s10038-021-00974-2. Epub 2021 Aug 31. J Hum Genet. 2022. PMID: 34462534

3

DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.

Elsharkawi I, Wongkittichote P, Daniel EJP, Starosta RT, Ueda K, Ng BG, Freeze HH, He M, Shinawi M. Elsharkawi I, et al. J Inherit Metab Dis. 2023 Jan;46(1):92-100. doi: 10.1002/jimd.12565. Epub 2022 Oct 17. J Inherit Metab Dis. 2023. PMID: 36214423 Free PMC article.

4

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. Timal S, et al. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991

5

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.

Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. Shrimal S, et al. Hum Mol Genet. 2013 Nov 15;22(22):4638-45. doi: 10.1093/hmg/ddt312. Epub 2013 Jul 10. Hum Mol Genet. 2013. PMID: 23842455 Free PMC article.

6

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. Bryant EM, et al. Am J Med Genet A. 2020 Jun;182(6):1460-1465. doi: 10.1002/ajmg.a.61553. Epub 2020 Apr 8. Am J Med Genet A. 2020. PMID: 32267060

7

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.

Jones MA, Rhodenizer D, da Silva C, Huff IJ, Keong L, Bean LJ, Coffee B, Collins C, Tanner AK, He M, Hegde MR. Jones MA, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):78-85. doi: 10.1016/j.ymgme.2013.05.012. Epub 2013 May 28. Mol Genet Metab. 2013. PMID: 23806237

8

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.

9

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. Al Teneiji A, et al. Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3. Mol Genet Metab. 2017. PMID: 28122681

10

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T. Imbach T, et al. J Clin Invest. 2000 Jan;105(2):233-9. doi: 10.1172/JCI8691. J Clin Invest. 2000. PMID: 10642602 Free PMC article.

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