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Page 1
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.
Gharavi AG, Yan Y, Scolari F, Schena FP, Frasca GM, Ghiggeri GM, Cooper K, Amoroso A, Viola BF, Battini G, Caridi G, Canova C, Farhi A, Subramanian V, Nelson-Williams C, Woodford S, Julian BA, Wyatt RJ, Lifton RP. Gharavi AG, et al. Among authors: farhi a. Nat Genet. 2000 Nov;26(3):354-7. doi: 10.1038/81677. Nat Genet. 2000. PMID: 11062479
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP. Boyden LM, et al. Among authors: farhi a. Nature. 2012 Jan 22;482(7383):98-102. doi: 10.1038/nature10814. Nature. 2012. PMID: 22266938 Free PMC article.
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. Yang CS, et al. Among authors: farhi a. Pediatr Dermatol. 2012 Nov-Dec;29(6):725-31. doi: 10.1111/j.1525-1470.2012.01757.x. Epub 2012 Apr 20. Pediatr Dermatol. 2012. PMID: 22515571 Free PMC article.
High bone density due to a mutation in LDL-receptor-related protein 5.
Boyden LM, Mao J, Belsky J, Mitzner L, Farhi A, Mitnick MA, Wu D, Insogna K, Lifton RP. Boyden LM, et al. Among authors: farhi a. N Engl J Med. 2002 May 16;346(20):1513-21. doi: 10.1056/NEJMoa013444. N Engl J Med. 2002. PMID: 12015390 Free article.
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP. Scholl UI, et al. Among authors: farhi a. Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5842-7. doi: 10.1073/pnas.0901749106. Epub 2009 Mar 16. Proc Natl Acad Sci U S A. 2009. PMID: 19289823 Free PMC article.
67 results