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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Tran Mau-Them F, Delanne J, Denommé-Pichon AS, Safraou H, Bruel AL, Vitobello A, Garde A, Nambot S, Bourgon N, Racine C, Sorlin A, Moutton S, Marle N, Rousseau T, Sagot P, Simon E, Vincent-Delorme C, Boute O, Colson C, Petit F, Legendre M, Naudion S, Rooryck C, Prouteau C, Colin E, Guichet A, Ziegler A, Bonneau D, Morel G, Fradin M, Lavillaureix A, Quelin C, Pasquier L, Odent S, Vera G, Goldenberg A, Guerrot AM, Brehin AC, Putoux A, Attia J, Abel C, Blanchet P, Wells CF, Deiller C, Nizon M, Mercier S, Vincent M, Isidor B, Amiel J, Dard R, Godin M, Gruchy N, Jeanne M, Schaeffer E, Maillard PY, Payet F, Jacquemont ML, Francannet C, Sigaudy S, Bergot M, Tisserant E, Ascencio ML, Binquet C, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Tran Mau-Them F, et al. Among authors: rooryck c. Front Genet. 2023 Mar 23;14:1099995. doi: 10.3389/fgene.2023.1099995. eCollection 2023. Front Genet. 2023. PMID: 37035737 Free PMC article.
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C. Nurden P, et al. Among authors: rooryck c. Blood. 2011 Nov 24;118(22):5928-37. doi: 10.1182/blood-2011-07-365601. Epub 2011 Sep 29. Blood. 2011. PMID: 21960593 Free article.
Characterization of hypertrophic cardiomyopathy according to global, regional, and multi-layer longitudinal strain analysis, and prediction of sudden cardiac death.
Vergé MP, Cochet H, Reynaud A, Morlon L, Peyrou J, Vincent C, Rooryck C, Ritter P, Lafitte S, Réant P. Vergé MP, et al. Among authors: rooryck c. Int J Cardiovasc Imaging. 2018 Jul;34(7):1091-1098. doi: 10.1007/s10554-018-1323-3. Epub 2018 Feb 27. Int J Cardiovasc Imaging. 2018. PMID: 29488042
125 results