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

Year Number of Results
1993 1
2001 1
2004 1
2005 4
2006 3
2007 1
2008 1
2009 1
2010 2
2011 3
2012 1
2013 3
2014 3
2015 5
2016 3
2017 2
2018 3
2019 6
2020 2
2021 8
2022 2
2023 4
2024 1

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53 results

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Page 1
Emery-Dreifuss Muscular Dystrophy.
Bonne G, Leturcq F, Ben Yaou R. Bonne G, et al. Among authors: ben yaou r. 2004 Sep 29 [updated 2019 Aug 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Sep 29 [updated 2019 Aug 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301609 Free Books & Documents. Review.
Preclinical Advances of Therapies for Laminopathies.
Benarroch L, Cohen E, Atalaia A, Ben Yaou R, Bonne G, Bertrand AT. Benarroch L, et al. Among authors: ben yaou r. J Clin Med. 2021 Oct 21;10(21):4834. doi: 10.3390/jcm10214834. J Clin Med. 2021. PMID: 34768351 Free PMC article. Review.
[MLIP: a novel gene causing rhabdomyolysis].
Ben Yaou R. Ben Yaou R. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:48. doi: 10.1051/medsci/2021193. Epub 2021 Dec 8. Med Sci (Paris). 2021. PMID: 34878397 Free article. French. No abstract available.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
[Laminopathies: one gene, several diseases].
Bertrand AT, Chikhaoui K, Ben Yaou R, Bonne G. Bertrand AT, et al. Among authors: ben yaou r. Biol Aujourdhui. 2011;205(3):147-62. doi: 10.1051/jbio/2011017. Epub 2011 Oct 11. Biol Aujourdhui. 2011. PMID: 21982404 Review. French.
Genetics of laminopathies.
Ben Yaou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G. Ben Yaou R, et al. Novartis Found Symp. 2005;264:81-90; discussion 90-97, 227-30. Novartis Found Symp. 2005. PMID: 15773749 Review.
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: ben yaou r. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larrañaga-Moreira JM, Medo K, Bermúdez-Jiménez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodríguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jiménez-Jáimez J, Garcia-Pavia P, Charron P, Biagini E, García Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM. Cannie DE, et al. Among authors: ben yaou r. Eur Heart J. 2023 Dec 21;44(48):5064-5073. doi: 10.1093/eurheartj/ehad561. Eur Heart J. 2023. PMID: 37639473 Free PMC article.
Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
de Feraudy Y, Ben Yaou R, Wahbi K, Stalens C, Stantzou A, Laugel V, Desguerre I; FILNEMUS Network; Servais L, Leturcq F, Amthor H. de Feraudy Y, et al. Among authors: ben yaou r. Ann Neurol. 2021 Feb;89(2):280-292. doi: 10.1002/ana.25951. Epub 2020 Nov 24. Ann Neurol. 2021. PMID: 33159473 Free PMC article.
53 results