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Page 1
GLI3 is rarely implicated in OFD syndromes with midline abnormalities.
Avila M, Gigot N, Aral B, Callier P, Gautier E, Thevenon J, Pasquier L, Lopez E, Gueneau L, Duplomb L, Goldenberg A, Baumann C, Cormier V, Marlin S, Masurel-Paulet A, Huet F, Attié-Bitach T, Faivre L, Thauvin-Robinet C. Avila M, et al. Among authors: gigot n. Hum Mutat. 2011 Nov;32(11):1332-3. doi: 10.1002/humu.21570. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21796731 No abstract available.
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T. Lopez E, et al. Among authors: gigot n. Hum Genet. 2014 Mar;133(3):367-77. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1. Hum Genet. 2014. PMID: 24178751
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: gigot n. Hum Mutat. 2009 Feb;30(2):E320-9. doi: 10.1002/humu.20888. Hum Mutat. 2009. PMID: 19023858
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.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. Carmignac V, et al. Among authors: gigot n. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25. Am J Hum Genet. 2012. PMID: 23103230 Free PMC article.
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.
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
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: gigot n. J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289185 Free PMC article. Review.
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
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T. Mosca-Boidron AL, et al. Among authors: gigot n. Eur J Hum Genet. 2016 Jun;24(6):838-43. doi: 10.1038/ejhg.2015.211. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395558 Free PMC article.
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