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Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.
Michot C, Le Goff C, Blair E, Blanchet P, Capri Y, Gilbert-Dussardier B, Goldenberg A, Henderson A, Isidor B, Kayserili H, Kinning E, Le Merrer M, Lyonnet S, Odent S, Simsek-Kiper PO, Quelin C, Savarirayan R, Simon M, Splitt M, Verhagen JMA, Verloes A, Munnich A, Baujat G, Cormier-Daire V. Michot C, et al. Among authors: odent s. Eur J Hum Genet. 2018 Nov;26(11):1611-1622. doi: 10.1038/s41431-018-0135-1. Epub 2018 Jul 13. Eur J Hum Genet. 2018. PMID: 30006632 Free PMC article.
Opitz GBBB syndrome: chromosomal evidence of an X-linked form.
Verloes A, David A, Odent S, Toutain A, André MJ, Lucas J, Le Marec B. Verloes A, et al. Among authors: odent s. Am J Med Genet. 1995 Oct 23;59(1):123-8. doi: 10.1002/ajmg.1320590124. Am J Med Genet. 1995. PMID: 8849003
Features of DiGeorge syndrome and CHARGE association in five patients.
de Lonlay-Debeney P, Cormier-Daire V, Amiel J, Abadie V, Odent S, Paupe A, Couderc S, Tellier AL, Bonnet D, Prieur M, Vekemans M, Munnich A, Lyonnet S. de Lonlay-Debeney P, et al. Among authors: odent s. J Med Genet. 1997 Dec;34(12):986-9. doi: 10.1136/jmg.34.12.986. J Med Genet. 1997. PMID: 9429139 Free PMC article.
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Hénocq A, Héron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frébourg T. Saugier-Veber P, et al. Among authors: odent s. Hum Mutat. 1998;12(4):259-66. doi: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A. Hum Mutat. 1998. PMID: 9744477
Sulphate transporter gene mutations in apparently isolated club foot.
Huber C, Odent S, Rumeur S, Padovani P, Penet C, Cormier-Daire V, Munnich A, Le Merrer M. Huber C, et al. Among authors: odent s. J Med Genet. 2001 Mar;38(3):191-3. doi: 10.1136/jmg.38.3.191. J Med Genet. 2001. PMID: 11303514 Free PMC article. No abstract available.
366 results