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Page 1
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.
Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn AC, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont ML, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé H. Bessis D, et al. Among authors: sigaudy s. Br J Dermatol. 2019 Jun;180(6):1438-1448. doi: 10.1111/bjd.17404. Epub 2019 Jan 18. Br J Dermatol. 2019. PMID: 30417923
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Among authors: sigaudy s. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
Costello syndrome.
Philip N, Sigaudy S. Philip N, et al. Among authors: sigaudy s. J Med Genet. 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. J Med Genet. 1998. PMID: 9541110 Free PMC article. Review.
Neonatal death in Marshall-Smith syndrome.
Chatel C, Maazoul F, Sigaudy S, Fredouille C, Ayme S, Philip N. Chatel C, et al. Among authors: sigaudy s. Genet Couns. 1998;9(1):15-8. Genet Couns. 1998. PMID: 9555581
CHARGE syndrome: report of 47 cases and review.
Tellier AL, Cormier-Daire V, Abadie V, Amiel J, Sigaudy S, Bonnet D, de Lonlay-Debeney P, Morrisseau-Durand MP, Hubert P, Michel JL, Jan D, Dollfus H, Baumann C, Labrune P, Lacombe D, Philip N, LeMerrer M, Briard ML, Munnich A, Lyonnet S. Tellier AL, et al. Among authors: sigaudy s. Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.
138 results