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For: Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM. Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep 2014;1:213-9. [PMID: 25019053 DOI: 10.1016/j.ymgmr.2014.04.004] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
Number Citing Articles
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3 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. ALG12-CDG: novel glycophenotype insights endorse the molecular defect. Glycoconj J 2019;36:461-72. [DOI: 10.1007/s10719-019-09890-2] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 5.5] [Reference Citation Analysis]
4 Lalani SR. Current Genetic Testing Tools in Neonatal Medicine. Pediatrics & Neonatology 2017;58:111-21. [DOI: 10.1016/j.pedneo.2016.07.002] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 3.5] [Reference Citation Analysis]
5 Ziburová J, Nemčovič M, Šesták S, Bellová J, Pakanová Z, Siváková B, Šalingová A, Šebová C, Ostrožlíková M, Lekka DE, Brucknerová J, Brucknerová I, Skokňová M, Mc Cullough A, Hrčková G, Hlavatá A, Bzdúch V, Mucha J, Baráth P. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. Am J Med Genet A 2021;185:3494-501. [PMID: 34467644 DOI: 10.1002/ajmg.a.62474] [Reference Citation Analysis]
6 Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. A human case of SLC35A3-related skeletal dysplasia. Am J Med Genet A 2017;173:2758-62. [PMID: 28777481 DOI: 10.1002/ajmg.a.38374] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 3.5] [Reference Citation Analysis]
7 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. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant. Mol Genet Genomic Med 2020;8:e1304. [PMID: 32530140 DOI: 10.1002/mgg3.1304] [Cited by in Crossref: 3] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
8 de la Morena-barrio ME, Martínez-martínez I, de Cos C, Wypasek E, Roldán V, Undas A, van Scherpenzeel M, Lefeber DJ, Toderici M, Sevivas T, España F, Jaeken J, Corral J, Vicente V. Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect. J Thromb Haemost 2016;14:1549-60. [DOI: 10.1111/jth.13372] [Cited by in Crossref: 22] [Cited by in F6Publishing: 20] [Article Influence: 4.4] [Reference Citation Analysis]
9 Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. Brain Dev 2021:S0387-7604(21)00102-9. [PMID: 34092405 DOI: 10.1016/j.braindev.2021.05.013] [Reference Citation Analysis]
10 Ankala A, Hegde MR. Gamut of Genetic Testing for Neonatal Care. Clinics in Perinatology 2015;42:217-26. [DOI: 10.1016/j.clp.2015.02.001] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
11 AlSubhi S, AlHashem A, AlAzami A, Tlili K, AlShahwan S, Lefeber D, Alkuraya FS, Tabarki B. Further Delineation of the ALG9-CDG Phenotype. JIMD Rep 2016;27:107-12. [PMID: 26453364 DOI: 10.1007/8904_2015_504] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.0] [Reference Citation Analysis]
12 Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. Eur J Hum Genet 2016;24:198-207. [PMID: 25966638 DOI: 10.1038/ejhg.2015.91] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 3.3] [Reference Citation Analysis]