Vahlquist A - Search Results

1

A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association.

Melin M, Klar J, Jr Gedde-Dahl T, Fredriksson R, Hausser I, Brandrup F, Bygum A, Vahlquist A, Hellström Pigg M, Dahl N. Melin M, et al. Among authors: vahlquist a. J Hum Genet. 2006;51(10):864-871. doi: 10.1007/s10038-006-0035-z. Epub 2006 Sep 1. J Hum Genet. 2006. PMID: 16946994

2

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Törmä H, Vahlquist A, Bouadjar B, Dahl N, Fischer J. Klar J, et al. Among authors: vahlquist a. Am J Hum Genet. 2009 Aug;85(2):248-53. doi: 10.1016/j.ajhg.2009.06.021. Epub 2009 Jul 23. Am J Hum Genet. 2009. PMID: 19631310 Free PMC article.

3

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: vahlquist a. J Med Genet. 2007 Oct;44(10):615-20. doi: 10.1136/jmg.2007.050542. Epub 2007 Jun 8. J Med Genet. 2007. PMID: 17557927 Free PMC article.

4

Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

Vahlquist A, Bygum A, Gånemo A, Virtanen M, Hellström-Pigg M, Strauss G, Brandrup F, Fischer J. Vahlquist A, et al. J Invest Dermatol. 2010 Feb;130(2):438-43. doi: 10.1038/jid.2009.346. Epub 2009 Nov 5. J Invest Dermatol. 2010. PMID: 19890349 Free article.

5

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

Dahlqvist J, Klar J, Tiwari N, Schuster J, Törmä H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: vahlquist a. Am J Hum Genet. 2010 Apr 9;86(4):596-603. doi: 10.1016/j.ajhg.2010.02.018. Epub 2010 Mar 11. Am J Hum Genet. 2010. PMID: 20226437 Free PMC article.

6

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Pigg MH, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A, Vahlquist A, Fischer J. Pigg MH, et al. Among authors: vahlquist a. Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi: 10.2340/00015555-2418. Acta Derm Venereol. 2016. PMID: 27025581 Free article.

7

Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13.

Klar J, Gedde-Dahl T Jr, Larsson M, Pigg M, Carlsson B, Tentler D, Vahlquist A, Dahl N. Klar J, et al. Among authors: vahlquist a. J Med Genet. 2004 Mar;41(3):208-12. doi: 10.1136/jmg.2003.012567. J Med Genet. 2004. PMID: 14985385 Free PMC article. No abstract available.

8

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Gudmundsson S, Wilbe M, Ekvall S, Ameur A, Cahill N, Alexandrov LB, Virtanen M, Hellström Pigg M, Vahlquist A, Törmä H, Bondeson ML. Gudmundsson S, et al. Among authors: vahlquist a. Hum Mol Genet. 2017 Mar 15;26(6):1070-1077. doi: 10.1093/hmg/ddx017. Hum Mol Genet. 2017. PMID: 28158657 Free PMC article.

9

Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.

Dahlqvist J, Westermark GT, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: vahlquist a. Arch Dermatol Res. 2012 Jul;304(5):377-86. doi: 10.1007/s00403-012-1207-7. Epub 2012 Jan 19. Arch Dermatol Res. 2012. PMID: 22258272

10

Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.

Zhao L, Vahlquist A, Virtanen M, Wennerstrand L, Lind LK, Lundström A, Hellström Pigg M. Zhao L, et al. Among authors: vahlquist a. Acta Derm Venereol. 2014 Nov;94(6):707-10. doi: 10.2340/00015555-1840. Acta Derm Venereol. 2014. PMID: 24604124 Free article.

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