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Journal Abstract Search

247 related items for PubMed ID: 25308318

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  • 3. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.
    Alef T, Torres S, Hausser I, Metze D, Türsen U, Lestringant GG, Hennies HC.
    J Invest Dermatol; 2009 Apr; 129(4):862-9. PubMed ID: 18843291
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  • 4. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.
    Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W.
    Eur J Dermatol; 2018 Apr 01; 28(2):209-216. PubMed ID: 29611532
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  • 7. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
    Youssefian L, Touati A, Saeidian AH, Zargari O, Zeinali S, Vahidnezhad H, Uitto J.
    Orphanet J Rare Dis; 2017 Dec 06; 12(1):176. PubMed ID: 29208051
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  • 12. 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, Gånemo A, Vahlquist A, Dahl N.
    J Med Genet; 2007 Oct 06; 44(10):615-20. PubMed ID: 17557927
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  • 15. A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
    Ortega-Recalde O, Moreno MB, Vergara JI, Fonseca DJ, Rojas RF, Mosquera H, Medina CL, Restrepo CM, Laissue P.
    Clin Exp Dermatol; 2015 Oct 06; 40(7):757-60. PubMed ID: 25754682
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  • 16. Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.
    von der Hagen M, Becker LL, Wienker TF, Smitka M, Musante L, Ropers HH, Huebner A, Hu H, Kaindl AM.
    Neuropediatrics; 2020 Feb 06; 51(1):72-75. PubMed ID: 31627234
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  • 18. Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.
    Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S.
    Mol Genet Genomic Med; 2020 Feb 06; 8(2):e1076. PubMed ID: 31833240
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  • 19. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
    Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W.
    PLoS One; 2014 Feb 06; 9(11):e112747. PubMed ID: 25392994
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  • 20. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
    Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Mansouri P, Sotoudeh S, Barzegar M, Mohammadi-Asl J, Karamzadeh R, Abiri M, McCormick K, Fortina P, Uitto J.
    J Invest Dermatol; 2017 Mar 06; 137(3):678-685. PubMed ID: 27884779
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