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Page 1
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Walz K, et al. Among authors: novelli g. Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21. Hum Genet. 2015. PMID: 25413698 Clinical Trial.
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.
Knight J, Spain SL, Capon F, Hayday A, Nestle FO, Clop A; Wellcome Trust Case Control Consortium; Genetic Analysis of Psoriasis Consortium; I-chip for Psoriasis Consortium; Barker JN, Weale ME, Trembath RC. Knight J, et al. Hum Mol Genet. 2012 Dec 1;21(23):5185-92. doi: 10.1093/hmg/dds344. Epub 2012 Aug 21. Hum Mol Genet. 2012. PMID: 22914738 Free PMC article.
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus.
Asumalahti K, Veal C, Laitinen T, Suomela S, Allen M, Elomaa O, Moser M, de Cid R, Ripatti S, Vorechovsky I, Marcusson JA, Nakagawa H, Lazaro C, Estivill X, Capon F, Novelli G, Saarialho-Kere U, Barker J, Trembath R, Kere J; Psoriasis Consortium. Asumalahti K, et al. Among authors: novelli g. Hum Mol Genet. 2002 Mar 1;11(5):589-97. doi: 10.1093/hmg/11.5.589. Hum Mol Genet. 2002. PMID: 11875053
Multilocus analysis of the fragile X syndrome.
Brown WT, Gross A, Chan C, Jenkins EC, Mandel JL, Oberlé I, Arveiler B, Novelli G, Thibodeau S, Hagerman R, et al. Brown WT, et al. Among authors: novelli g. Hum Genet. 1988 Mar;78(3):201-5. doi: 10.1007/BF00291662. Hum Genet. 1988. PMID: 3162224
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.
Grohmann K, Wienker TF, Saar K, Rudnik-Schöneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nürnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hübner C. Grohmann K, et al. Among authors: novelli g. Am J Hum Genet. 1999 Nov;65(5):1459-62. doi: 10.1086/302636. Am J Hum Genet. 1999. PMID: 10521314 Free PMC article. No abstract available.
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F, Le Pen J, de Weerd NA, Moncada-Velez M, Materna M, Lin DC, Milisavljevic B, Vianna F, Bizien L, Lorenzo L, Lecuit M, Pommier JD, Keles S, Ozcelik T, Pedraza-Sanchez S, de Prost N, El Zein L, Hammoud H, Ng LFP, Halwani R, Saheb Sharif-Askari N, Lau YL, Tam AR, Singh N, Bhattad S, Berkun Y, Chantratita W, Aguilar-López R, Shahrooei M; COVID-19 HGE Consortium; SEAe Consortium; Abel L, Bastard P, Jouanguy E, Béziat V, Zhang P, Rice CM, Cobat A, Zhang SY, Hertzog PJ, Casanova JL, Zhang Q. Al Qureshah F, et al. J Exp Med. 2025 Feb 3;222(2):e20241413. doi: 10.1084/jem.20241413. Epub 2024 Dec 16. J Exp Med. 2025. PMID: 39680367 Free PMC article.
1,201 results