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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. 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.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Callier P, et al. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. Clin Genet. 2013. PMID: 23506379 Free article.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T. Thauvin-Robinet C, et al. Clin Genet. 2013 Jul;84(1):86-90. doi: 10.1111/cge.12013. Epub 2012 Oct 4. Clin Genet. 2013. PMID: 23036093 No abstract available.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Thevenon J, et al. Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29. Clin Genet. 2016. PMID: 27060890 Free PMC article.
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. 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
337 results