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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
J Clin Oncol. 2015 Jul 20;33(21):2345-52. doi: 10.1200/JCO.2014.59.5728. Epub 2015 May 26.
J Clin Oncol. 2015.
PMID: 26014290
Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1.
Benusiglio PR, Caron O, Consolino E, Duvillard P, Coulet F, Blayau M, Malka D.
Benusiglio PR, et al. Among authors: consolino e.
Int J Cancer. 2013 May 15;132(10):2470. doi: 10.1002/ijc.27923. Epub 2012 Nov 16.
Int J Cancer. 2013.
PMID: 23124477
Free article.
No abstract available.
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Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Janin A, Perouse de Montclos T, Nguyen K, Consolino E, Nadeau G, Rey G, Bouchot O, Blanchet P, Sabbagh Q, Cazeneuve C, El-Malti R, Morel E, Delinière A, Chevalier P, Millat G.
Janin A, et al. Among authors: consolino e.
Mol Diagn Ther. 2022 Sep;26(5):551-560. doi: 10.1007/s40291-022-00604-3. Epub 2022 Jul 15.
Mol Diagn Ther. 2022.
PMID: 35838873
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.
Nguyen K, Roche S, Donal E, Odent S, Eicher JC, Faivre L, Millat G, Salgado D, Desvignes JP, Lavoute C, Haentjens J, Consolino É, Janin A, Cerino M, Réant P, Rooryck C, Charron P, Richard P, Casalta AC, Michel N, Magdinier F, Béroud C, Lévy N, Habib G.
Nguyen K, et al. Among authors: consolino e.
Circ Genom Precis Med. 2019 May;12(5):e002500. doi: 10.1161/CIRCGEN.119.002500.
Circ Genom Precis Med. 2019.
PMID: 31112424
Free article.
No abstract available.
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Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.
Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC, Bloch-Zupan A, Clauss F.
Tardieu C, et al. Among authors: consolino e.
Clin Genet. 2017 Nov;92(5):477-486. doi: 10.1111/cge.12972. Epub 2017 Mar 19.
Clin Genet. 2017.
PMID: 28105635
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