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Page 1
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: sangiorgi e. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
RADX Gene Variant May Predispose to Familial Asperger Syndrome.
Azzarà A, Rumore R, Brugnoletti F, Tabolacci E, Bottillo I, Sangiorgi E, Gurrieri F. Azzarà A, et al. Among authors: sangiorgi e. Genes (Basel). 2023 Jan 23;14(2):301. doi: 10.3390/genes14020301. Genes (Basel). 2023. PMID: 36833228 Free PMC article.
A split hand-split foot (SHFM3) gene is located at 10q24-->25.
Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P. Gurrieri F, et al. Among authors: sangiorgi e. Am J Med Genet. 1996 Apr 24;62(4):427-36. doi: 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723077
Rearrangements of chromosome 15 in epilepsy.
Torrisi L, Sangiorgi E, Russo L, Gurrieri F. Torrisi L, et al. Among authors: sangiorgi e. Am J Med Genet. 2001 Summer;106(2):125-8. doi: 10.1002/ajmg.1570. Am J Med Genet. 2001. PMID: 11579432
Limb anomalies: Developmental and evolutionary aspects.
Gurrieri F, Kjaer KW, Sangiorgi E, Neri G. Gurrieri F, et al. Among authors: sangiorgi e. Am J Med Genet. 2002 Dec 30;115(4):231-44. doi: 10.1002/ajmg.10981. Am J Med Genet. 2002. PMID: 12503118 Review.
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
Milillo A, La Carpia F, Costanzi S, D'Urbano V, Martini M, Lanuti P, Vischini G, Larocca LM, Marchisio M, Miscia S, Amoroso A, Gurrieri F, Sangiorgi E. Milillo A, et al. Among authors: sangiorgi e. Eur J Hum Genet. 2015 Dec;23(12):1673-8. doi: 10.1038/ejhg.2015.52. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782674 Free PMC article.
49 results