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103 results

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Page 1
Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S. Holder-Espinasse M, et al. Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622331 Free PMC article.
Prenatal diagnosis of metatropic dwarfism.
Manouvrier-Hanu S, Devisme L, Zelasko MC, Bourgeot P, Vincent-Delorme C, Valat-Rigot AS, Puech F, Farriaux JP. Manouvrier-Hanu S, et al. Prenat Diagn. 1995 Aug;15(8):753-6. doi: 10.1002/pd.1970150811. Prenat Diagn. 1995. PMID: 7479594
Genetics of limb anomalies in humans.
Manouvrier-Hanu S, Holder-Espinasse M, Lyonnet S. Manouvrier-Hanu S, et al. Trends Genet. 1999 Oct;15(10):409-17. doi: 10.1016/s0168-9525(99)01823-5. Trends Genet. 1999. PMID: 10498937 Review.
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. 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.
Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.
Holder-Espinasse M, Escande F, Mayrargue E, Dieux-Coeslier A, Fron D, Doual-Bisser A, Boute-Benejean O, Robert Y, Porchet N, Manouvrier-Hanu S. Holder-Espinasse M, et al. J Med Genet. 2004 Jun;41(6):e78. doi: 10.1136/jmg.2003.013904. J Med Genet. 2004. PMID: 15173244 Free PMC article. No abstract available.
[Genetics and orthopedics: genetic implications of congenital limb abnormalities].
Holder-Espinasse M, Herbaux B, Mezel A, Lacombe D, Devisme L, Boute-Bénéjean O, Dieux-Coeslier A, Escande F, Manouvrier-Hanu S. Holder-Espinasse M, et al. Rev Chir Orthop Reparatrice Appar Mot. 2006 Feb;92(1):83-94. doi: 10.1016/s0035-1040(06)75680-x. Rev Chir Orthop Reparatrice Appar Mot. 2006. PMID: 16609623 Review. French.
A new mutation in TP63 is associated with age-related pathology.
Holder-Espinasse M, Martin-Coignard D, Escande F, Manouvrier-Hanu S. Holder-Espinasse M, et al. Eur J Hum Genet. 2007 Nov;15(11):1115-20. doi: 10.1038/sj.ejhg.5201888. Epub 2007 Jul 4. Eur J Hum Genet. 2007. PMID: 17609671 Review.
103 results