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Page 1
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F. Angius A, et al. Among authors: crisponi l, crisponi g. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. Am J Hum Genet. 2016. PMID: 27392078 Free PMC article.
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. Crisponi L, et al. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. Crisponi L, et al. Among authors: crisponi g. Am J Hum Genet. 2007 May;80(5):971-81. doi: 10.1086/516843. Epub 2007 Mar 30. Am J Hum Genet. 2007. PMID: 17436252 Free PMC article.
IRAK-M is involved in the pathogenesis of early-onset persistent asthma.
Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Naitza S, Zuncheddu MA, Maschio A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Devoto M, Doratiotto S, Rassu S, Mereu S, Giua E, Cadeddu NG, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu MG, Del Giacco GS, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G. Balaci L, et al. Among authors: crisponi l. Am J Hum Genet. 2007 Jun;80(6):1103-14. doi: 10.1086/518259. Epub 2007 Apr 27. Am J Hum Genet. 2007. PMID: 17503328 Free PMC article.
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Sanna S, Busonero F, Maschio A, McArdle PF, Usala G, Dei M, Lai S, Mulas A, Piras MG, Perseu L, Masala M, Marongiu M, Crisponi L, Naitza S, Galanello R, Abecasis GR, Shuldiner AR, Schlessinger D, Cao A, Uda M. Sanna S, et al. Among authors: crisponi l. Hum Mol Genet. 2009 Jul 15;18(14):2711-8. doi: 10.1093/hmg/ddp203. Epub 2009 May 6. Hum Mol Genet. 2009. PMID: 19419973 Free PMC article.
86 results