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Page 1
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L. El Chehadeh S, et al. Among authors: donzel a. J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. J Med Genet. 2010. PMID: 20656880 Free article.
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frébourg T, Faivre L. Thauvin-Robinet C, et al. Among authors: donzel a. Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888. Hum Mutat. 2009. PMID: 19023858
Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L. Thauvin-Robinet C, et al. Among authors: donzel a. Am J Med Genet A. 2009 Aug;149A(8):1846-9. doi: 10.1002/ajmg.a.32981. Am J Med Genet A. 2009. PMID: 19610098 No abstract available.
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Thauvin-Robinet C, Cossée M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, Bieth E, Layet V, Parent P, David A, Goldenberg A, Mortier G, Héron D, Sagot P, Bouvier AM, Huet F, Cusin V, Donzel A, Devys D, Teyssier JR, Faivre L. Thauvin-Robinet C, et al. Among authors: donzel a. J Med Genet. 2006 Jan;43(1):54-61. doi: 10.1136/jmg.2004.027672. J Med Genet. 2006. PMID: 16397067 Free PMC article.
Circulating leukocyte telomere length and oxidative stress: a new target for statin therapy.
Saliques S, Teyssier JR, Vergely C, Lorgis L, Lorin J, Farnier M, Donzel A, Sicard P, Berchoud J, Lagrost AC, Touzery C, Ragot S, Cottin Y, Rochette L, Zeller M. Saliques S, et al. Among authors: donzel a. Atherosclerosis. 2011 Dec;219(2):753-60. doi: 10.1016/j.atherosclerosis.2011.09.011. Epub 2011 Sep 16. Atherosclerosis. 2011. PMID: 21962402 Free 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: donzel a. 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.
[Telomeres in the brain cortex of depressive patients].
Teyssier JR, Ragot S, Donzel A, Chauvet-Gelinier JC. Teyssier JR, et al. Among authors: donzel a. Encephale. 2010 Dec;36(6):491-4. doi: 10.1016/j.encep.2010.04.004. Epub 2010 May 20. Encephale. 2010. PMID: 21130233 French.
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