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Page 1
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
El Chehadeh-Djebbar S, Faivre L, Moncla A, Aral B, Missirian C, Popovici C, Rump P, Van Essen A, Frances AM, Gigot N, Cusin V, Masurel-Paulet A, Gueneau L, Payet M, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Balikova I, Teyssier JR, Mugneret F, Thauvin-Robinet C, Callier P. El Chehadeh-Djebbar S, et al. Among authors: gigot n. J Med Genet. 2011 Nov;48(11):e1. doi: 10.1136/jmg.2011.088948. Epub 2011 Feb 17. J Med Genet. 2011. PMID: 21330571 No abstract available.
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: gigot n. J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. J Med Genet. 2010. PMID: 20656880 Free article.
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C. Courcet JB, et al. Among authors: gigot n. J Med Genet. 2012 Dec;49(12):731-6. doi: 10.1136/jmedgenet-2012-101251. Epub 2012 Oct 25. J Med Genet. 2012. PMID: 23099646
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L. El Chehadeh-Djebbar S, et al. Among authors: gigot n. Eur J Hum Genet. 2013 Jul;21(7):736-42. doi: 10.1038/ejhg.2012.251. Epub 2012 Nov 28. Eur J Hum Genet. 2013. PMID: 23188044 Free PMC article.
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
Gueneau L, Duplomb L, Sarda P, Hamel C, Aral B, Chehadeh SE, Gigot N, St-Onge J, Callier P, Thevenon J, Huet F, Carmignac V, Droin N, Faivre L, Thauvin-Robinet C. Gueneau L, et al. Among authors: gigot n. Am J Med Genet A. 2014 Feb;164A(2):522-7. doi: 10.1002/ajmg.a.36300. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311531
Cohen syndrome is associated with major glycosylation defects.
Duplomb L, Duvet S, Picot D, Jego G, El Chehadeh-Djebbar S, Marle N, Gigot N, Aral B, Carmignac V, Thevenon J, Lopez E, Rivière JB, Klein A, Philippe C, Droin N, Blair E, Girodon F, Donadieu J, Bellanné-Chantelot C, Delva L, Michalski JC, Solary E, Faivre L, Foulquier F, Thauvin-Robinet C. Duplomb L, et al. Among authors: gigot n. Hum Mol Genet. 2014 May 1;23(9):2391-9. doi: 10.1093/hmg/ddt630. Epub 2013 Dec 13. Hum Mol Genet. 2014. PMID: 24334764
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: gigot n. 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.
Cerebral dysgenesis does not exclude OFD I syndrome.
Thauvin-Robinet C, Lesca G, Aral B, Gigot N, Lambert S, Gueneau L, Macca M, Franco B, Huet F, Zabot MT, Attié-Bitach T, Attia-Sobol J, Faivre L. Thauvin-Robinet C, et al. Among authors: gigot n. Am J Med Genet A. 2011 Feb;155A(2):455-7. doi: 10.1002/ajmg.a.33812. Epub 2011 Jan 13. Am J Med Genet A. 2011. PMID: 21271673 No abstract available.
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: gigot n. Eur J Med Genet. 2012 Jan;55(1):8-11. doi: 10.1016/j.ejmg.2011.07.004. Epub 2011 Aug 18. Eur J Med Genet. 2012. PMID: 21872685
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attié-Bitach T, Thauvin-Robinet C. Darmency-Stamboul V, et al. Among authors: gigot n. Eur J Med Genet. 2013 Jun;56(6):301-8. doi: 10.1016/j.ejmg.2013.03.004. Epub 2013 Mar 21. Eur J Med Genet. 2013. PMID: 23523602
23 results