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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 1
2001 2
2002 1
2003 1
2007 1
2008 1
2009 1
2010 1
2011 1
2012 5
2013 6
2014 5
2015 6
2016 4
2017 10
2018 16
2019 23
2020 15
2021 14
2022 6
2023 3
2024 0

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Similar articles for PMID: 31705726

101 results

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Page 1
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, Müller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR. Vodopiutz J, et al. Hum Mutat. 2017 Jan;38(1):34-38. doi: 10.1002/humu.23070. Epub 2016 Sep 22. Hum Mutat. 2017. PMID: 27599773
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
Meyer R, Schacht S, Buschmann L, Begemann M, Kraft F, Haag N, Kochs A, Schulze A, Kurth I, Elbracht M. Meyer R, et al. Bone. 2019 Oct;127:446-451. doi: 10.1016/j.bone.2019.07.016. Epub 2019 Jul 17. Bone. 2019. PMID: 31325655
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW. Oud MM, et al. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132690 Free PMC article.
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Mol Genet Metab Rep. 2014 Nov 20;2:1-15. doi: 10.1016/j.ymgmr.2014.11.005. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649518 Free PMC article.
ALG11-CDG syndrome: Expanding the phenotype.
Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA 2nd. Haanpää MK, et al. Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24. Am J Med Genet A. 2019. PMID: 30676690 Free PMC article.
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Pacheco-Cuéllar G, Gauthier J, Désilets V, Lachance C, Lemire-Girard M, Rypens F, Le Deist F, Decaluwe H, Duval M, Bouron-Dal Soglio D, Kokta V, Haddad É, Campeau PM. Pacheco-Cuéllar G, et al. J Bone Miner Res. 2017 Sep;32(9):1853-1859. doi: 10.1002/jbmr.3173. Epub 2017 Jun 26. J Bone Miner Res. 2017. PMID: 28543917 Free article.
101 results