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Page 1
A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R. Vilboux T, et al. N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5. N Engl J Med. 2013. PMID: 23738510 Free PMC article.
Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.
Cullinane AR, Vilboux T, O'Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C; NISC Comparative Sequencing Program; Markello TC, Gunay-Aygun M, Huizing M, Gahl WA. Cullinane AR, et al. Among authors: vilboux t. J Invest Dermatol. 2011 Oct;131(10):2017-25. doi: 10.1038/jid.2011.157. Epub 2011 Jun 16. J Invest Dermatol. 2011. PMID: 21677667 Free PMC article.
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. Gunay-Aygun M, et al. Among authors: vilboux t. Nat Genet. 2011 Jul 17;43(8):732-4. doi: 10.1038/ng.883. Nat Genet. 2011. PMID: 21765412 Free PMC article.
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. Nesterova G, et al. Among authors: vilboux t. Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi: 10.2215/CJN.05360512. Epub 2013 Jan 4. Clin J Am Soc Nephrol. 2013. PMID: 23293122 Free PMC article.
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M. Celeste FV, et al. Among authors: vilboux t. Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583. Hum Mutat. 2014. PMID: 24796702 Free PMC article. Review.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA. Adams DR, et al. Among authors: vilboux t. Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13. Mol Genet Metab. 2014. PMID: 24863970 Free PMC article.
59 results