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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2002 | 1 |
2006 | 1 |
2011 | 1 |
2012 | 1 |
2016 | 1 |
2020 | 1 |
2024 | 1 |
PubMed (GeneRIF) for id: 29929
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Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of an ALG6 Modifier Variant.
Int J Mol Sci. 2024 Jan 13;25(2):1004. doi: 10.3390/ijms25021004.
Int J Mol Sci. 2024.
PMID: 38256083
Free PMC article.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Starosta RT, Tarnowski J, Vairo FPE, Raymond K, Preston G, Morava E.
Starosta RT, et al.
Eur J Med Genet. 2020 Jul;63(7):103941. doi: 10.1016/j.ejmg.2020.103941. Epub 2020 May 11.
Eur J Med Genet. 2020.
PMID: 32407885
Free article.
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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA.
Morava E, et al.
J Inherit Metab Dis. 2016 Sep;39(5):713-723. doi: 10.1007/s10545-016-9945-x. Epub 2016 Jun 10.
J Inherit Metab Dis. 2016.
PMID: 27287710
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Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.
Goreta SS, Dabelic S, Pavlinic D, Lauc G, Dumic J.
Goreta SS, et al.
Genet Test Mol Biomarkers. 2012 Jan;16(1):50-3. doi: 10.1089/gtmb.2011.0093. Epub 2011 Sep 7.
Genet Test Mol Biomarkers. 2012.
PMID: 21899441
Free PMC article.
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Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH.
Eklund EA, et al.
Biochem Biophys Res Commun. 2006 Jan 20;339(3):755-60. doi: 10.1016/j.bbrc.2005.11.073.
Biochem Biophys Res Commun. 2006.
PMID: 16321363
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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.
Westphal V, et al.
Hum Mol Genet. 2002 Mar 1;11(5):599-604. doi: 10.1093/hmg/11.5.599.
Hum Mol Genet. 2002.
PMID: 11875054
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