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

Year Number of Results
1995 1
1996 1
2002 1
2003 1
2004 3
2005 1
2006 3
2007 3
2008 5
2009 8
2010 6
2011 9
2012 9
2013 4
2014 12
2015 2
2016 6
2017 4
2018 3
2019 5
2020 7
2021 4
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88 results
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Page 1
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: funalot b. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G. Boyer O, et al. Among authors: funalot b. N Engl J Med. 2011 Dec 22;365(25):2377-88. doi: 10.1056/NEJMoa1109122. N Engl J Med. 2011. PMID: 22187985 Free article.
Natural history and impact of treatment with tafamidis on major cardiovascular outcome-free survival time in a cohort of patients with transthyretin amyloidosis.
Bézard M, Kharoubi M, Galat A, Poullot E, Guendouz S, Fanen P, Funalot B, Moktefi A, Lefaucheur JP, Abulizi M, Deux JF, Gendre T, Audard V, El Karoui K, Canoui-Poitrine F, Zaroui A, Itti E, Teiger E, Planté-Bordeneuve V, Oghina S, Damy T. Bézard M, et al. Among authors: funalot b. Eur J Heart Fail. 2021 Feb;23(2):264-274. doi: 10.1002/ejhf.2028. Epub 2020 Nov 9. Eur J Heart Fail. 2021. PMID: 33094885
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H. Laugel V, et al. Among authors: funalot b. Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154. Hum Mutat. 2010. PMID: 19894250
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A.
Attarian S, Vallat JM, Magy L, Funalot B, Gonnaud PM, Lacour A, Péréon Y, Dubourg O, Pouget J, Micallef J, Franques J, Lefebvre MN, Ghorab K, Al-Moussawi M, Tiffreau V, Preudhomme M, Magot A, Leclair-Visonneau L, Stojkovic T, Bossi L, Lehert P, Gilbert W, Bertrand V, Mandel J, Milet A, Hajj R, Boudiaf L, Scart-Grès C, Nabirotchkin S, Guedj M, Chumakov I, Cohen D. Attarian S, et al. Among authors: funalot b. Orphanet J Rare Dis. 2014 Dec 18;9:199. doi: 10.1186/s13023-014-0199-0. Orphanet J Rare Dis. 2014. PMID: 25519680 Free PMC article. Clinical Trial.
[Molecular diagnosis strategies in neurofibromatosis type 1].
Bhouri R, Hebrard B, Wolkenstein P, Funalot B. Bhouri R, et al. Among authors: funalot b. Ann Dermatol Venereol. 2020 Mar;147(3):247-251. doi: 10.1016/j.annder.2019.09.608. Epub 2019 Dec 20. Ann Dermatol Venereol. 2020. PMID: 31870577 French. No abstract available.
Interstitial lung disease reveals 48,XXYY syndrome in a child.
Gros M, Aissat A, Perez-Martin S, Abou Taam R, Funalot B, Fanen P, Epaud R, de Becdelievre A. Gros M, et al. Among authors: funalot b. Acta Paediatr. 2020 May;109(5):1060-1061. doi: 10.1111/apa.15090. Epub 2019 Dec 4. Acta Paediatr. 2020. PMID: 31721284 No abstract available.
Endoneurial fibroblast-like cells.
Richard L, Topilko P, Magy L, Decouvelaere AV, Charnay P, Funalot B, Vallat JM. Richard L, et al. Among authors: funalot b. J Neuropathol Exp Neurol. 2012 Nov;71(11):938-47. doi: 10.1097/NEN.0b013e318270a941. J Neuropathol Exp Neurol. 2012. PMID: 23095846 Review.
Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L, Aissat A, Badaoui B, Sakka M, Gameiro C, Ortonne V, Wagner-Ballon O, Pissard S, Picard V, Ghazal K, Bahuau M, Guitton C, Mansour Z, Duplan M, Petit A, Costedoat-Chalumeau N, Michel M, Bartolucci P, Moutereau S, Funalot B, Galactéros F. Mansour-Hendili L, et al. Among authors: funalot b. Orphanet J Rare Dis. 2020 Jul 8;15(1):180. doi: 10.1186/s13023-020-01425-5. Orphanet J Rare Dis. 2020. PMID: 32641076 Free PMC article.
The various Charcot-Marie-Tooth diseases.
Vallat JM, Mathis S, Funalot B. Vallat JM, et al. Among authors: funalot b. Curr Opin Neurol. 2013 Oct;26(5):473-80. doi: 10.1097/WCO.0b013e328364c04b. Curr Opin Neurol. 2013. PMID: 23945280 Review.
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