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496 results

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Page 1
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, Rothenbuhler A, Guggenbuhl P, Cormier C, Baujat G, Debiais F, Capri Y, Cohen-Solal M, Parent P, Chiesa J, Dieux A, Petit F, Roume J, Isnard M, Cormier-Daire V, Linglart A, Millán JL, Salles JP, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. Mol Genet Metab. 2015 Nov;116(3):215-20. doi: 10.1016/j.ymgme.2015.09.010. Epub 2015 Sep 30. Mol Genet Metab. 2015. PMID: 26432670 Free PMC article.
Acral dysostosis dyserythropoiesis syndrome.
Le Merrer M, Girot R, Parent P, Cormier-Daire V, Maroteaux P. Le Merrer M, et al. Eur J Pediatr. 1995 May;154(5):384-8. doi: 10.1007/BF02072110. Eur J Pediatr. 1995. PMID: 7641772
Genetic heterogeneity of Meckel syndrome.
Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A. Roume J, et al. J Med Genet. 1997 Dec;34(12):1003-6. doi: 10.1136/jmg.34.12.1003. J Med Genet. 1997. PMID: 9429143 Free PMC article.
Recent advances in Dyggve-Melchior-Clausen syndrome.
Paupe V, Gilbert T, Le Merrer M, Munnich A, Cormier-Daire V, El Ghouzzi V. Paupe V, et al. Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9. doi: 10.1016/j.ymgme.2004.08.012. Mol Genet Metab. 2004. PMID: 15464420 Review.
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. J Med Genet. 2005 Apr;42(4):307-13. doi: 10.1136/jmg.2004.027755. J Med Genet. 2005. PMID: 15805156 Free PMC article.
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N; Childhood Overgrowth Collaboration. Tatton-Brown K, et al. Am J Hum Genet. 2005 Aug;77(2):193-204. doi: 10.1086/432082. Epub 2005 Jun 7. Am J Hum Genet. 2005. PMID: 15942875 Free PMC article.
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.
496 results