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

Year Number of Results
2002 1
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2005 3
2006 1
2007 5
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2009 3
2010 3
2011 4
2012 1
2013 2
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2015 2
2016 1
2017 2
2018 3
2019 2
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2024 4

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PubMed (GeneRIF) for id: 26154

43 results

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Page 1
Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).
Terrinoni A, Sala G, Bruno E, Pitolli C, Minieri M, Pieri M, Gambacurta A, Campione E, Belardi R, Bernardini S. Terrinoni A, et al. Int J Mol Sci. 2023 Sep 11;24(18):13962. doi: 10.3390/ijms241813962. Int J Mol Sci. 2023. PMID: 37762265 Free PMC article.
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
Hotz A, Kopp J, Bourrat E, Oji V, Süßmuth K, Komlosi K, Bouadjar B, Tantcheva-Poór I, Hellström Pigg M, Betz RC, Giehl K, Schedel F, Weibel L, Schulz S, Stölzl DV, Tadini G, Demiral E, Berggard K, Zimmer AD, Alter S, Fischer J. Hotz A, et al. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez-Ugalde A, Moscoso F, Ugalde-Noritz N, Santomé L, Fachal L, Tettamanti-Miranda D, Ruiz JC, Ginarte M, Vega A. Montalván-Suárez M, et al. Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27. Mol Genet Genomic Med. 2019. PMID: 30916489 Free PMC article.
Positive selection in Europeans and East-Asians at the ABCA12 gene.
Sirica R, Buonaiuto M, Petrella V, Sticco L, Tramontano D, Antonini D, Missero C, Guardiola O, Andolfi G, Kumar H, Ayub Q, Xue Y, Tyler-Smith C, Salvemini M, D'Angelo G, Colonna V. Sirica R, et al. Sci Rep. 2019 Mar 19;9(1):4843. doi: 10.1038/s41598-019-40360-9. Sci Rep. 2019. PMID: 30890716 Free PMC article.
43 results