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Page 1
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: torrents j. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.
Robert T, Raymond L, Dancer M, Torrents J, Jourde-Chiche N, Burtey S, Béroud C, Mesnard L. Robert T, et al. Among authors: torrents j. Clin Kidney J. 2023 Apr 25;17(1):sfad099. doi: 10.1093/ckj/sfad099. eCollection 2024 Jan. Clin Kidney J. 2023. PMID: 38186885 Free PMC article.
Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.
Robert T, Greillier S, Torrents J, Raymond L, Dancer M, Jourde-Chiche N, Halimi JM, Burtey S, Béroud C, Mesnard L. Robert T, et al. Among authors: torrents j. Kidney Int Rep. 2023 Jul 22;8(10):2077-2087. doi: 10.1016/j.ekir.2023.07.003. eCollection 2023 Oct. Kidney Int Rep. 2023. PMID: 37850010 Free PMC article.
Whole body perinatal postmortem CT angiography.
Sarda-Quarello L, Bartoli C, Laurent PE, Torrents J, Piercecchi-Marti MD, Sigaudy S, Ariey-Bonnet D, Gorincour G. Sarda-Quarello L, et al. Among authors: torrents j. Diagn Interv Imaging. 2016 Jan;97(1):121-4. doi: 10.1016/j.diii.2014.11.002. Epub 2015 May 29. Diagn Interv Imaging. 2016. PMID: 26032303 Free article. No abstract available.
Diagnosis of congenital abnormalities with post-mortem ultrasound in perinatal death.
Tuchtan L, Lesieur E, Bartoli C, Delteil C, Sarda-Quarello L, Torrents J, Sigaudy S, Piercecchi MD, Gorincour G. Tuchtan L, et al. Among authors: torrents j. Diagn Interv Imaging. 2018 Mar;99(3):143-149. doi: 10.1016/j.diii.2017.11.005. Epub 2017 Dec 8. Diagn Interv Imaging. 2018. PMID: 29229509 Free article.
Congenital Infection of Severe Acute Respiratory Syndrome Coronavirus 2 With Intrauterine Fetal Death: A Clinicopathological Study With Molecular Analysis.
Lesieur E, Torrents J, Fina F, Zandotti C, Blanc J, Collardeau-Frachon S, Gazin C, Sirgant D, Mezouar S, Otmani Idrissi M, Lepidi H, Bretelle F, Mege JL, Daniel L, Fritih R. Lesieur E, et al. Among authors: torrents j. Clin Infect Dis. 2022 Aug 24;75(1):e1092-e1100. doi: 10.1093/cid/ciab840. Clin Infect Dis. 2022. PMID: 34553751 Free PMC article.
52 results