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Sleep-disordered breathing in children with mucolipidosis.
Tabone L, Caillaud C, Amaddeo A, Khirani S, Michot C, Couloigner V, Brassier A, Cormier-Daire V, Baujat G, Fauroux B. Tabone L, et al. Am J Med Genet A. 2019 Jul;179(7):1196-1204. doi: 10.1002/ajmg.a.61167. Epub 2019 Apr 30. Am J Med Genet A. 2019. PMID: 31038846
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. 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
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.
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V. Willems M, et al. J Med Genet. 2010 Dec;47(12):797-802. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29. J Med Genet. 2010. PMID: 19643772 Free article.
472 results