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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 3
2009 3
2011 1
2012 1
2013 2
2015 2
2016 3
2017 7
2018 7
2019 9
2020 2
2021 5
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43 results
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Page 1
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.
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: albuisson j. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665
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.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Kuentz P, et al. Among authors: albuisson j. Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151489
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J, Murthy SE, Bandell M, Coste B, Louis-Dit-Picard H, Mathur J, Fénéant-Thibault M, Tertian G, de Jaureguiberry JP, Syfuss PY, Cahalan S, Garçon L, Toutain F, Simon Rohrlich P, Delaunay J, Picard V, Jeunemaitre X, Patapoutian A. Albuisson J, et al. Nat Commun. 2013;4:1884. doi: 10.1038/ncomms2899. Nat Commun. 2013. PMID: 23695678 Free PMC article.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: albuisson j. Genet Med. 2019 Aug;21(8):1894-1895. doi: 10.1038/s41436-018-0035-3. Genet Med. 2019. PMID: 30201961
Implementation and use of whole exome sequencing for metastatic solid cancer.
Réda M, Richard C, Bertaut A, Niogret J, Collot T, Fumet JD, Blanc J, Truntzer C, Desmoulins I, Ladoire S, Hennequin A, Favier L, Bengrine L, Vincent J, Hervieu A, Dusserre JG, Lepage C, Foucher P, Borg C, Albuisson J, Arnould L, Nambot S, Faivre L, Boidot R, Ghiringhelli F. Réda M, et al. Among authors: albuisson j. EBioMedicine. 2020 Jan;51:102624. doi: 10.1016/j.ebiom.2019.102624. Epub 2020 Jan 7. EBioMedicine. 2020. PMID: 31923800 Free PMC article. Clinical Trial.
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.
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