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Year Number of Results
2005 2
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2009 3
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2017 7
2018 9
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2021 10
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64 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.
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.
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.
Sudden Cardiovascular Arrest During Sexual Intercourse.
Sharifzadehgan A, Marijon E, Bougouin W, Karam N, Narayanan K, Waldmann V, Lamhaut L, Jost D, Dumas F, Cariou A, Jouven X; Paris-SDEC Investigators. Sharifzadehgan A, et al. Circulation. 2018 Apr 10;137(15):1638-1640. doi: 10.1161/CIRCULATIONAHA.117.032299. Circulation. 2018. PMID: 29632157 No abstract available.
Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.
Kasper E, Boulouard F, Basset N, Golmard L, Sassi H, Bouvignies E, Branchaud M, Charbonnier C, Parodi N, Rolain M, Albuisson J, Al Saati A, Benusiglio P, Berthet P, Bidart M, Bonnet C, Bouras A, Boutry-Kryza N, Brayotel F, Bubien V, Buisson A, Castéra L, Caron O, Colas C, Coulet F, Delnatte C, Derangère V, Fievet A, Garrec C, Gauthier-Villars M, Gay-Bellile M, Goussot V, le Gall J, Lepage M, Lokchine A, Perrier A, Rouleau E, Sevenet N, Stoppa-Lyonnet D, Ravel JM, Perre PV, Vaur D, Vilquin P, Bougeard G, Baert-Desurmont S, Thery JC, Houdayer C. Kasper E, et al. Among authors: albuisson j. Int J Cancer. 2025 Sep 1;157(5):897-907. doi: 10.1002/ijc.35475. Epub 2025 Jun 11. Int J Cancer. 2025. PMID: 40501034 Free PMC article.
Real-world prevalence, treatment and survival of "high risk" early breast cancer, with mandatory testing of gBRCA1/2 mutation according to the OlympiA trial inclusion criteria: Data from a population-based registry.
Ladoire S, Mamguem Kamga A, Galland L, Desmoulins I, Mayeur D, Kaderbhai C, Ilie SM, Hennequin A, Jankowski C, Albuisson J, Nambot S, Coutant C, Arnould L, Reda M, Truntzer C, Dabakuyo S. Ladoire S, et al. Among authors: albuisson j. Breast. 2024 Dec;78:103789. doi: 10.1016/j.breast.2024.103789. Epub 2024 Aug 28. Breast. 2024. PMID: 39243563 Free PMC article.
Clinical utility gene card: for pseudoxanthoma elasticum.
Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J. Legrand A, et al. Among authors: albuisson j. Eur J Hum Genet. 2018 Jun;26(6):919-924. doi: 10.1038/s41431-017-0090-2. Epub 2018 Feb 27. Eur J Hum Genet. 2018. PMID: 29487417 Free PMC article. No abstract available.
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.
64 results