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Page 1
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: couillault g. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.
Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L. Lavoine N, et al. Among authors: couillault g. J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. J Med Genet. 2015. PMID: 26318770 Review.
Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort.
Aladjidi N, Fernandes H, Leblanc T, Vareliette A, Rieux-Laucat F, Bertrand Y, Chambost H, Pasquet M, Mazingue F, Guitton C, Pellier I, Roqueplan-Bellmann F, Armari-Alla C, Thomas C, Marie-Cardine A, Lejars O, Fouyssac F, Bayart S, Lutz P, Piguet C, Jeziorski E, Rohrlich P, Lemoine P, Bodet D, Paillard C, Couillault G, Millot F, Fischer A, Pérel Y, Leverger G. Aladjidi N, et al. Among authors: couillault g. Front Pediatr. 2015 Sep 29;3:79. doi: 10.3389/fped.2015.00079. eCollection 2015. Front Pediatr. 2015. PMID: 26484337 Free PMC article.
Coffin-Lowry syndrome: a multicenter study.
Gilgenkrantz S, Mujica P, Gruet P, Tridon P, Schweitzer F, Nivelon-Chevallier A, Nivelon JL, Couillault G, David A, Verloes A, et al. Gilgenkrantz S, et al. Among authors: couillault g. Clin Genet. 1988 Oct;34(4):230-45. doi: 10.1111/j.1399-0004.1988.tb02870.x. Clin Genet. 1988. PMID: 3069251 Clinical Trial.
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.
Degrolard-Courcet E, Sokolowska J, Padeano MM, Guiu S, Bronner M, Chery C, Coron F, Lepage C, Chapusot C, Loustalot C, Jouve JL, Hatem C, Ferrant E, Martin L, Coutant C, Baurand A, Couillault G, Delignette A, El Chehadeh S, Lizard S, Arnould L, Fumoleau P, Callier P, Mugneret F, Philippe C, Frebourg T, Jonveaux P, Faivre L. Degrolard-Courcet E, et al. Among authors: couillault g. Eur J Hum Genet. 2014 Aug;22(8):979-87. doi: 10.1038/ejhg.2013.278. Epub 2013 Dec 4. Eur J Hum Genet. 2014. PMID: 24301060 Free PMC article. Review.
An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years.
Alligon M, Mahlaoui N, Courteille V, Costes L, Afonso V, Randrianomenjanahary P, de Vergnes N, Ranohavimparany A, Vo D, Hafsa I, Bach P, Benoit V, Garcelon N, Fischer A; members of the CEREDIH French PID study group. Alligon M, et al. J Allergy Clin Immunol. 2022 Jun;149(6):2116-2125. doi: 10.1016/j.jaci.2021.12.790. Epub 2022 Jan 12. J Allergy Clin Immunol. 2022. PMID: 35031273
Diversity of the clinical presentation of the MMR gene biallelic mutations.
Bougeard G, Olivier-Faivre L, Baert-Desurmont S, Tinat J, Martin C, Bouvignies E, Vasseur S, Huet F, Couillault G, Vabres P, Le Pessot F, Chapusot C, Malka D, Bressac-de Paillerets B, Tosi M, Frebourg T. Bougeard G, et al. Among authors: couillault g. Fam Cancer. 2014 Mar;13(1):131-5. doi: 10.1007/s10689-013-9676-1. Fam Cancer. 2014. PMID: 24068316
Impact of early molecular response in children with chronic myeloid leukemia treated in the French Glivec phase 4 study.
Millot F, Guilhot J, Baruchel A, Petit A, Bertrand Y, Mazingue F, Lutz P, Vérité C, Berthou C, Galambrun C, Sirvent N, Yakouben K, Schmitt C, Gandemer V, Reguerre Y, Couillault G, Mechinaud F, Cayuela JM. Millot F, et al. Among authors: couillault g. Blood. 2014 Oct 9;124(15):2408-10. doi: 10.1182/blood-2014-05-578567. Epub 2014 Aug 28. Blood. 2014. PMID: 25170123 Free article. Clinical Trial.
Imatinib is effective in children with previously untreated chronic myelogenous leukemia in early chronic phase: results of the French national phase IV trial.
Millot F, Baruchel A, Guilhot J, Petit A, Leblanc T, Bertrand Y, Mazingue F, Lutz P, Vérité C, Berthou C, Galambrun C, Bernard F, Yacouben K, Bordigoni P, Edan C, Reguerre Y, Couillault G, Méchinaud F, Cayuela JM, Guilhot F. Millot F, et al. Among authors: couillault g. J Clin Oncol. 2011 Jul 10;29(20):2827-32. doi: 10.1200/JCO.2010.32.7114. Epub 2011 Jun 13. J Clin Oncol. 2011. PMID: 21670449 Clinical Trial.
Lymphocyte-predominant Hodgkin's lymphoma in children: therapeutic abstention after initial lymph node resection--a Study of the French Society of Pediatric Oncology.
Pellegrino B, Terrier-Lacombe MJ, Oberlin O, Leblanc T, Perel Y, Bertrand Y, Beard C, Edan C, Schmitt C, Plantaz D, Pacquement H, Vannier JP, Lambilliote C, Couillault G, Babin-Boilletot A, Thuret I, Demeocq F, Leverger G, Delsol G, Landman-Parker J; Study of the French Society of Pediatric Oncology. Pellegrino B, et al. Among authors: couillault g. J Clin Oncol. 2003 Aug 1;21(15):2948-52. doi: 10.1200/JCO.2003.01.079. J Clin Oncol. 2003. PMID: 12885814 Clinical Trial.
52 results