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Year Number of Results
2000 2
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2003 7
2004 5
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2007 5
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2014 10
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85 results

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Page 1
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R, Rogerson C, Windpassinger C, Banushi B, Straatman-Iwanowska A, Hanley J, Forneris F, Strohal R, Ulz P, Crumrine D, Menon GK, Blunder S, Schmuth M, Müller T, Smith H, Mills K, Kroisel P, Janecke AR, Gissen P. Gruber R, et al. Among authors: windpassinger c. J Invest Dermatol. 2017 Apr;137(4):845-854. doi: 10.1016/j.jid.2016.12.010. Epub 2016 Dec 23. J Invest Dermatol. 2017. PMID: 28017832 Free PMC article. Review.
Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.
Hussain S, Nawaz A, Hamid M, Ullah W, Khan IN, Afshan M, Rehman A, Nawaz H, Halswick J, Rehman SU, Ahmad S, Muzammal M, Muhammad N, Jan A, Khan S, Windpassinger C, Khan MA. Hussain S, et al. Among authors: windpassinger c. Biotechnol Appl Biochem. 2022 Dec;69(6):2296-2303. doi: 10.1002/bab.2286. Epub 2021 Dec 10. Biotechnol Appl Biochem. 2022. PMID: 34826358
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Schaflinger E, Blatterer J, Khan AS, Kaufmann L, Auinger L, Tatrai B, Abbasi SW, Zeeshan Ali M, Abbasi AA, Al Kaissi A, Petek E, Wagner K, Ahmad Khan M, Windpassinger C. Schaflinger E, et al. Among authors: windpassinger c. Gene. 2022 Jul 30;833:146582. doi: 10.1016/j.gene.2022.146582. Epub 2022 May 18. Gene. 2022. PMID: 35597529 Free article.
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Kaufmann L, Pilic J, Auinger L, Mayer AL, Blatterer J, Semmler-Bruckner J, Abbas S, Rehman K, Ayaz M, Graier WF, Malli R, Petek E, Wagner K, Al Kaissi A, Khan MA, Windpassinger C. Kaufmann L, et al. Among authors: windpassinger c. Clin Genet. 2023 Oct;104(4):491-496. doi: 10.1111/cge.14381. Epub 2023 Jun 4. Clin Genet. 2023. PMID: 37270786
Is the molecular clock ticking differently in bipolar disorder? Methylation analysis of the clock gene ARNTL.
Bengesser SA, Reininghaus EZ, Lackner N, Birner A, Fellendorf FT, Platzer M, Kainzbauer N, Tropper B, Hörmanseder C, Queissner R, Kapfhammer HP, Wallner-Liebmann SJ, Fuchs R, Petek E, Windpassinger C, Schnalzenberger M, Reininghaus B, Evert B, Waha A. Bengesser SA, et al. Among authors: windpassinger c. World J Biol Psychiatry. 2018;19(sup2):S21-S29. doi: 10.1080/15622975.2016.1231421. Epub 2016 Oct 14. World J Biol Psychiatry. 2018. PMID: 27739341
85 results