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Page 1
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.
Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F. Callier P, et al. Among authors: guy j. Am J Med Genet A. 2008 Aug 15;146A(16):2109-15. doi: 10.1002/ajmg.a.32447. Am J Med Genet A. 2008. PMID: 18629884
Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia.
Callier P, Faivre L, Marle N, Thauvin-Robinet C, Guy J, Mosca AL, D'Athis P, Masurel-Paulet A, Assous D, Teyssier JR, Huet F, Mugneret F. Callier P, et al. Among authors: guy j. Am J Med Genet A. 2009 Jun;149A(6):1323-6. doi: 10.1002/ajmg.a.32857. Am J Med Genet A. 2009. PMID: 19449416 No abstract available.
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.
Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo MA, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie JN, Delva L, Faivre L, Thauvin-Robinet C, Solary E. Duplomb L, et al. Among authors: guy j. J Mol Med (Berl). 2019 May;97(5):633-645. doi: 10.1007/s00109-019-01754-4. Epub 2019 Mar 7. J Mol Med (Berl). 2019. PMID: 30843084
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. Carapito R, et al. Among authors: guy j. J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3. J Clin Invest. 2017. PMID: 28972538 Free PMC article.
Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignancies.
Magne J, Jenvrin A, Chauchet A, Casasnovas O, Donzel A, Jego L, Aral B, Guy J, Nadal N, Vernerey D, Callier P, Garnache-Ottou F, Ferrand C. Magne J, et al. Among authors: guy j. Exp Hematol Oncol. 2018 Feb 20;7:5. doi: 10.1186/s40164-018-0097-6. eCollection 2018. Exp Hematol Oncol. 2018. PMID: 29484276 Free PMC article.
Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).
Burlet B, Ramla S, Fournier C, Abrey-Recalde MJ, Sauter C, Chrétien ML, Rossi C, Duffourd Y, Ragot S, Buriller C, Tournier B, Chapusot C, Nadal N, Racine J, Guy J, Bailly F, Martin L, Casasnovas O, Bastie JN, Caillot D, Albuisson J, Broccardo C, Thieblemont C, Delva L, Maynadié M, Aucagne R, Callanan MB. Burlet B, et al. Among authors: guy j. Cold Spring Harb Mol Case Stud. 2021 Feb 19;7(1):a005934. doi: 10.1101/mcs.a005934. Print 2021 Feb. Cold Spring Harb Mol Case Stud. 2021. PMID: 33608382 Free PMC article.
Plasma phospholipid transfer protein (PLTP) modulates adaptive immune functions through alternation of T helper cell polarization.
Desrumaux C, Lemaire-Ewing S, Ogier N, Yessoufou A, Hammann A, Sequeira-Le Grand A, Deckert V, Pais de Barros JP, Le Guern N, Guy J, Khan NA, Lagrost L. Desrumaux C, et al. Among authors: guy j. Cell Mol Immunol. 2016 Nov;13(6):795-804. doi: 10.1038/cmi.2015.75. Epub 2015 Aug 31. Cell Mol Immunol. 2016. PMID: 26320740 Free PMC article.
984 results