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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.
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.
Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP. Wilson FH, et al. Among authors: farhi a. Science. 2004 Nov 12;306(5699):1190-4. doi: 10.1126/science.1102521. Epub 2004 Oct 21. Science. 2004. PMID: 15498972 Free PMC article.
Sequence variants in SLITRK1 are associated with Tourette's syndrome.
Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS 4th, Kurlan R, Singer HS, Gilbert DL, Farhi A, Louvi A, Lifton RP, Sestan N, State MW. Abelson JF, et al. Among authors: farhi a. Science. 2005 Oct 14;310(5746):317-20. doi: 10.1126/science.1116502. Science. 2005. PMID: 16224024
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
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.
67 results