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Page 1
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Hsu SC, et al. Among authors: nevarez l. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334463 Free PMC article.
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Tompson SW, et al. Among authors: nevarez l. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035103 Free PMC article.
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
Duran I, Nevarez L, Sarukhanov A, Wu S, Lee K, Krejci P, Weis M, Eyre D, Krakow D, Cohn DH. Duran I, et al. Among authors: nevarez l. Hum Mol Genet. 2015 Apr 1;24(7):1918-28. doi: 10.1093/hmg/ddu608. Epub 2014 Dec 15. Hum Mol Genet. 2015. PMID: 25510505 Free PMC article.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Among authors: nevarez l. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O. Laine CM, et al. Among authors: nevarez l. N Engl J Med. 2013 May 9;368(19):1809-16. doi: 10.1056/NEJMoa1215458. N Engl J Med. 2013. PMID: 23656646 Free PMC article.
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).
Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH; University of Washington Center for Mendelian Genomics. Lee H, et al. Among authors: nevarez l. Am J Med Genet A. 2015 Oct;167A(10):2470-3. doi: 10.1002/ajmg.a.37173. Epub 2015 May 22. Am J Med Genet A. 2015. PMID: 25997753 Free PMC article. No abstract available.
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics Consortium; Krakow D, Cohn DH. Zhang W, et al. Among authors: nevarez l. Hum Mol Genet. 2016 Sep 15;25(18):4012-4020. doi: 10.1093/hmg/ddw241. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466190 Free PMC article.
35 results