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A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A. Bonfante B, et al. Sci Adv. 2021 Feb 5;7(6):eabc6160. doi: 10.1126/sciadv.abc6160. Print 2021 Feb. Sci Adv. 2021. PMID: 33547071 Free PMC article.
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. J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. J Med Genet. 2010. PMID: 20656880 Free article.
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L. Lopez E, et al. Am J Med Genet A. 2012 Feb;158A(2):333-9. doi: 10.1002/ajmg.a.34401. Epub 2012 Jan 13. Am J Med Genet A. 2012. PMID: 22247066
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. 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.
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. 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
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C. Thevenon J, et al. Am J Med Genet A. 2014 Dec;164A(12):3027-34. doi: 10.1002/ajmg.a.36751. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25258245
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
Limoge F, Faivre L, Gautier T, Petit JM, Gautier E, Masson D, Jego G, El Chehadeh-Djebbar S, Marle N, Carmignac V, Deckert V, Brindisi MC, Edery P, Ghoumid J, Blair E, Lagrost L, Thauvin-Robinet C, Duplomb L. Limoge F, et al. Hum Mol Genet. 2015 Dec 1;24(23):6603-13. doi: 10.1093/hmg/ddv366. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358774
322 results