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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2008 2
2009 1
2010 2
2011 5
2012 1
2013 2
2014 3
2015 2
2016 9
2017 16
2018 6
2019 5
2020 6
2021 2
2022 2
2023 1
2024 0

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59 results

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Page 1
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM. Vocke CD, et al. Among authors: vilboux t. Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513625 Free PMC article.
Liver prometastatic reaction: Stimulating factors and responsive cancer phenotypes.
Vidal-Vanaclocha F, Crende O, García de Durango C, Herreros-Pomares A, López-Doménech S, González Á, Ruiz-Casares E, Vilboux T, Caruso R, Durán H, Gil A, Ielpo B, Lapuente F, Quijano Y, Vicente E, Vidal-Lartitegui L, Sotomayor EM. Vidal-Vanaclocha F, et al. Among authors: vilboux t. Semin Cancer Biol. 2021 Jun;71:122-133. doi: 10.1016/j.semcancer.2020.08.001. Epub 2020 Aug 15. Semin Cancer Biol. 2021. PMID: 32805395 Review.
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.
Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV. Hardee I, et al. Among authors: vilboux t. Am J Med Genet A. 2017 Dec;173(12):3231-3237. doi: 10.1002/ajmg.a.38376. Epub 2017 Oct 20. Am J Med Genet A. 2017. PMID: 29052317 Free PMC article.
Cover Image, Volume 173A, Number 12, December 2017.
Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV. Hardee I, et al. Among authors: vilboux t. Am J Med Genet A. 2017 Dec;173(12):i. doi: 10.1002/ajmg.a.38548. Am J Med Genet A. 2017. PMID: 29136352
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Forsyth R, Parisi MA, Altintas B, Malicdan MC, Vilboux T, Knoll J, Brooks BP, Zein WM, Gahl WA, Toro C, Gunay-Aygun M. Forsyth R, et al. Among authors: vilboux t. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):121-130. doi: 10.1002/ajmg.c.31966. Epub 2022 Mar 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 35312150 Free PMC article.
Gram-negative Microbiota Blooms in Premature Twins Discordant for Parenteral Nutrition-associated Cholestasis.
Hourigan SK, Moutinho TJ Jr, Berenz A, Papin J, Guha P, Bangiolo L, Oliphant S, Provenzano M, Baveja R, Baker R, Vilboux T, Levy S, Deopujari V, Nataro JP, Niederhuber JE, Moore SR. Hourigan SK, et al. Among authors: vilboux t. J Pediatr Gastroenterol Nutr. 2020 May;70(5):640-644. doi: 10.1097/MPG.0000000000002617. J Pediatr Gastroenterol Nutr. 2020. PMID: 31939866 Free PMC article.
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M. Fleming LR, et al. Among authors: vilboux t. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146704 Free PMC article.
59 results