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Page 1
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, Dagoneau N, Boute O, Viot G, Mégarbané A, Sefiani A, Munnich A, Le Merrer M, Cormier-Daire V. Thauvin-Robinet C, et al. Among authors: boute o. J Med Genet. 2002 Oct;39(10):714-7. doi: 10.1136/jmg.39.10.714. J Med Genet. 2002. PMID: 12362026 Free PMC article.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S; 16p11.2 European Consortium. Maillard AM, et al. Mol Psychiatry. 2015 Feb;20(1):140-7. doi: 10.1038/mp.2014.145. Epub 2014 Nov 25. Mol Psychiatry. 2015. PMID: 25421402 Free PMC article.
Brachmann-de Lange syndrome: pre- and postnatal findings.
Manouvrier S, Espinasse M, Vaast P, Boute O, Farre I, Dupont F, Puech F, Gosselin B, Farriaux JP. Manouvrier S, et al. Among authors: boute o. Am J Med Genet. 1996 Mar 29;62(3):268-73. doi: 10.1002/(SICI)1096-8628(19960329)62:3<268::AID-AJMG12>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8882785
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: boute o. Am J Hum Genet. 2001 Dec;69(6):1370-7. doi: 10.1086/324342. Epub 2001 Oct 10. Am J Hum Genet. 2001. PMID: 11595972 Free PMC article.
Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.
Holder-Espinasse M, Devisme L, Thomas D, Boute O, Vaast P, Fron D, Herbaux B, Puech F, Manouvrier-Hanu S. Holder-Espinasse M, et al. Among authors: boute o. Am J Med Genet A. 2004 Feb 1;124A(4):417-22. doi: 10.1002/ajmg.a.20359. Am J Med Genet A. 2004. PMID: 14735595 Review.
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