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180 results

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Page 1
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I. Barat-Houari M, et al. Among authors: baujat g. Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626311 Free PMC article.
Functional disomy of the Xq28 chromosome region.
Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C. Sanlaville D, et al. Among authors: baujat g. Eur J Hum Genet. 2005 May;13(5):579-85. doi: 10.1038/sj.ejhg.5201384. Eur J Hum Genet. 2005. PMID: 15741994 Review.
Clinical and molecular overlap in overgrowth syndromes.
Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Colleaux L, Cormier-Daire V. Baujat G, et al. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):4-11. doi: 10.1002/ajmg.c.30060. Am J Med Genet C Semin Med Genet. 2005. PMID: 16010674
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
Achondroplasia.
Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Baujat G, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):3-18. doi: 10.1016/j.berh.2007.12.008. Best Pract Res Clin Rheumatol. 2008. PMID: 18328977 Review.
180 results