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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C. Lessel D, et al. Among authors: piussan c. Hum Mutat. 2015 Nov;36(11):1070-9. doi: 10.1002/humu.22833. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26172944 Free PMC article.
Homozygous and compound heterozygous mutations at the Werner syndrome locus.
Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, Balci S, Miki T, Nakura J, Ogihara T, Ells J, Smith M, Melaragno MI, Fraccaro M, Scappaticci S, Matthews J, Ouais S, Jarzebowicz A, Schellenberg GD, Martin GM. Oshima J, et al. Among authors: piussan c. Hum Mol Genet. 1996 Dec;5(12):1909-13. doi: 10.1093/hmg/5.12.1909. Hum Mol Genet. 1996. PMID: 8968742
[Werner's syndrome].
Piussan C. Piussan C. Arch Fr Pediatr. 1992 Aug-Sep;49(7):647-55. Arch Fr Pediatr. 1992. PMID: 1476485 Review. French. No abstract available.
Homozygosity mapping of the Werner syndrome locus (WRN).
Nakura J, Wijsman EM, Miki T, Kamino K, Yu CE, Oshima J, Fukuchi K, Weber JL, Piussan C, Melaragno MI, et al. Nakura J, et al. Among authors: piussan c. Genomics. 1994 Oct;23(3):600-8. doi: 10.1006/geno.1994.1548. Genomics. 1994. PMID: 7851888
Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).
Mathieu M, Piussan C, Thepot F, Gouget A, Lacombe D, Pedespan JM, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle JP, Croquette MF, Teyssier M, Plauchu H, Pelissier MC, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, Le Merrer M, Gonzales M, Journel H, et al. Mathieu M, et al. Among authors: piussan c. Ann Genet. 1997;40(1):45-54. Ann Genet. 1997. PMID: 9150850
118 results