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Mutations in ANKH cause chondrocalcinosis.
Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM. Pendleton A, et al. Among authors: reginato a. Am J Hum Genet. 2002 Oct;71(4):933-40. doi: 10.1086/343054. Epub 2002 Sep 20. Am J Hum Genet. 2002. PMID: 12297987 Free PMC article.
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.
Andrew LJ, Brancolini V, de la Pena LS, Devoto M, Caeiro F, Marchegiani R, Reginato A, Gaucher A, Netter P, Gillet P, Loeuille D, Prockop DJ, Carr A, Wordsworth BF, Lathrop M, Butcher S, Considine E, Everts K, Nicod A, Walsh S, Williams CJ. Andrew LJ, et al. Among authors: reginato a. Am J Hum Genet. 1999 Jan;64(1):136-45. doi: 10.1086/302186. Am J Hum Genet. 1999. PMID: 9915952 Free PMC article.
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA. Williams CJ, et al. Among authors: reginato a. Am J Hum Genet. 2002 Oct;71(4):985-91. doi: 10.1086/343053. Epub 2002 Sep 17. Am J Hum Genet. 2002. PMID: 12297989 Free PMC article.
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL. Aksentijevich I, et al. Among authors: reginato aj. Am J Hum Genet. 2001 Aug;69(2):301-14. doi: 10.1086/321976. Epub 2001 Jul 6. Am J Hum Genet. 2001. PMID: 11443543 Free PMC article.
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.
Reginato AJ, Passano GM, Neumann G, Falasca GF, Diaz-Valdez M, Jimenez SA, Williams CJ. Reginato AJ, et al. Arthritis Rheum. 1994 Jul;37(7):1078-86. doi: 10.1002/art.1780370714. Arthritis Rheum. 1994. PMID: 8024616
221 results