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

Year Number of Results
2007 1
2008 2
2010 2
2011 1
2012 1
2013 2
2014 3
2015 2
2016 4
2017 3
2018 5
2019 3
2020 3
2021 4
2022 1
2023 2
2024 1

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34 results

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Page 1
Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1.
Komlosi K, Glocker C, Hsu-Rehder HH, Alter S, Kopp J, Hotz A, Zimmer AD, Hausser-Siller I, Sandhoff R, Oji V, Fischer J. Komlosi K, et al. J Invest Dermatol. 2024 Apr 18:S0022-202X(24)00303-8. doi: 10.1016/j.jid.2024.03.041. Online ahead of print. J Invest Dermatol. 2024. PMID: 38642798 Free 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. Among authors: zimmer ad. Genes (Basel). 2023 Mar 15;14(3):717. doi: 10.3390/genes14030717. Genes (Basel). 2023. PMID: 36980989 Free PMC article.
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
Komlosi K, Claris O, Collardeau-Frachon S, Kopp J, Hausser I, Mazereeuw-Hautier J, Jonca N, Zimmer AD, Sanlaville D, Fischer J. Komlosi K, et al. Among authors: zimmer ad. Front Genet. 2021 Dec 8;12:719624. doi: 10.3389/fgene.2021.719624. eCollection 2021. Front Genet. 2021. PMID: 34956305 Free PMC article.
The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S. Resch LD, et al. Among authors: zimmer ad. Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483. Genes (Basel). 2021. PMID: 34680878 Free PMC article.
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz A, Kopp J, Bourrat E, Oji V, Komlosi K, Giehl K, Bouadjar B, Bygum A, Tantcheva-Poor I, Hellström Pigg M, Has C, Yang Z, Irvine AD, Betz RC, Zambruno G, Tadini G, Süßmuth K, Gruber R, Schmuth M, Mazereeuw-Hautier J, Jonca N, Guez S, Brena M, Hernandez-Martin A, van den Akker P, Bolling MC, Hannula-Jouppi K, Zimmer AD, Alter S, Vahlquist A, Fischer J. Hotz A, et al. Among authors: zimmer ad. Genes (Basel). 2021 Jan 9;12(1):80. doi: 10.3390/genes12010080. Genes (Basel). 2021. PMID: 33435499 Free PMC article.
Neonatal presentation of COG6-CDG with prominent skin phenotype.
Komlosi K, Gläser S, Kopp J, Hotz A, Alter S, Zimmer AD, Beger C, Heinzel S, Schmidt C, Fischer J. Komlosi K, et al. Among authors: zimmer ad. JIMD Rep. 2020 Aug 7;55(1):51-58. doi: 10.1002/jmd2.12154. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905044 Free PMC article.
Severe metabolic alterations in liver cancer lead to ERK pathway activation and drug resistance.
Nwosu ZC, Piorońska W, Battello N, Zimmer AD, Dewidar B, Han M, Pereira S, Blagojevic B, Castven D, Charlestin V, Holenya P, Lochead J, De La Torre C, Gretz N, Sajjakulnukit P, Zhang L, Ward MH, Marquardt JU, di Magliano MP, Lyssiotis CA, Sleeman J, Wölfl S, Ebert MP, Meyer C, Hofmann U, Dooley S. Nwosu ZC, et al. EBioMedicine. 2020 Apr;54:102699. doi: 10.1016/j.ebiom.2020.102699. Epub 2020 Apr 21. EBioMedicine. 2020. PMID: 32330875 Free PMC article.
34 results