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Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: faivre l. Eur J Med Genet. 2012 Jan;55(1):8-11. doi: 10.1016/j.ejmg.2011.07.004. Epub 2011 Aug 18. Eur J Med Genet. 2012. PMID: 21872685
Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Holder-Espinasse M, Marie S, Bourrouillou G, Ceballos-Picot I, Nassogne MC, Faivre L, Amiel J, Munnich A, Vincent MF, Cormier-Daire V. Holder-Espinasse M, et al. Among authors: faivre l. J Med Genet. 2002 Jun;39(6):440-2. doi: 10.1136/jmg.39.6.440. J Med Genet. 2002. PMID: 12070256 Free PMC article. No abstract available.
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Thauvin-Robinet C, Faivre L, Lewin P, De Monléon JV, François C, Huet F, Couailler JF, Campos-Xavier AB, Bonaventure J, Le Merrer M. Thauvin-Robinet C, et al. Among authors: faivre l. Am J Med Genet A. 2003 May 15;119A(1):81-4. doi: 10.1002/ajmg.a.10238. Am J Med Genet A. 2003. PMID: 12707965 No abstract available.
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. Among authors: faivre l. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.
Unique survival in chrondrodysplasia-hermaphrodism syndrome.
Thauvin-Robinet C, Mugneret F, Callier P, Chouchane M, Garron E, Manceau E, Laurent N, Durand C, Nivelon-Chevallier A, Sapin E, Huet F, Faivre L. Thauvin-Robinet C, et al. Among authors: faivre l. Am J Med Genet A. 2005 Jan 30;132A(3):335-7. doi: 10.1002/ajmg.a.30417. Am J Med Genet A. 2005. PMID: 15578577 No abstract available.
759 results