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

Year Number of Results
2005 2
2006 1
2008 1
2009 2
2012 1
2013 2
2015 2
2016 2
2017 5
2018 7
2019 9
2020 2
2021 8
2022 5
2023 6
2024 0

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50 results

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Page 1
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Among authors: albuisson j. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
Tessler I, Albuisson J, Piñeiro-Sabarís R, Verstraeten A, Kamber Kaya HE, Siguero-Álvarez M, Goudot G, MacGrogan D, Luyckx I, Shpitzen S, Levin G, Kelman G, Reshef N, Mananet H, Holdcraft J, Muehlschlegel JD, Peloso GM, Oppenheim O, Cheng C, Mazzella JM, Andelfinger G, Mital S, Eriksson P, Billon C, Heydarpour M, Dietz HC, Jeunemaitre X, Leitersdorf E, Sprinzak D, Blacklow SC, Body SC, Carmi S, Loeys B, de la Pompa JL, Gilon D, Messas E, Durst R. Tessler I, et al. Among authors: albuisson j. JAMA Cardiol. 2023 Aug 1;8(8):721-731. doi: 10.1001/jamacardio.2023.1469. JAMA Cardiol. 2023. PMID: 37405741 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.
Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer.
Galland L, Roussot N, Desmoulins I, Mayeur D, Kaderbhai C, Ilie S, Hennequin A, Reda M, Albuisson J, Arnould L, Boidot R, Truntzer C, Ghiringhelli F, Ladoire S. Galland L, et al. Among authors: albuisson j. Cancers (Basel). 2023 Feb 18;15(4):1299. doi: 10.3390/cancers15041299. Cancers (Basel). 2023. PMID: 36831640 Free PMC article. Review.
Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.
Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella JM, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X. Frank M, et al. Among authors: albuisson j. J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. J Am Coll Cardiol. 2019. PMID: 30999998 Free article.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F. Jiao Y, et al. Among authors: albuisson j. Eur J Cancer. 2023 Jan;179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub 2022 Nov 13. Eur J Cancer. 2023. PMID: 36509001 Free article.
Bicuspid Aortic Valve: Genetic and Clinical Insights.
Tessler I, Albuisson J, Goudot G, Carmi S, Shpitzen S, Messas E, Gilon D, Durst R. Tessler I, et al. Among authors: albuisson j. Aorta (Stamford). 2021 Aug;9(4):139-146. doi: 10.1055/s-0041-1730294. Epub 2021 Dec 3. Aorta (Stamford). 2021. PMID: 34861740 Free PMC article.
Detection of relevant pharmacogenetic information through exome sequencing in oncology.
Verdez S, Albuisson J, Duffourd Y, Boidot R, Reda M, Thauvin-Robinet C, Fumet JD, Ladoire S, Nambot S, Callier P, Faivre L, Ghiringhelli F, Picard N. Verdez S, et al. Among authors: albuisson j. Pharmacogenomics. 2022 Sep;23(14):759-770. doi: 10.2217/pgs-2022-0085. Epub 2022 Aug 31. Pharmacogenomics. 2022. PMID: 36043386
Is Bicuspid Aortic Valve Morphology Genetically Determined? A Family-Based Study.
Tessler I, Goudot G, Albuisson J, Reshef N, Zwas DR, Carmi S, Shpitzen S, Levin G, Kelman G, Cheng C, Mazzella JM, Levin Y, Messas E, Gilon D, Durst R. Tessler I, et al. Among authors: albuisson j. Am J Cardiol. 2022 Jan 15;163:85-90. doi: 10.1016/j.amjcard.2021.09.051. Epub 2021 Nov 17. Am J Cardiol. 2022. PMID: 34799086
50 results