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Page 1
Perlman syndrome: report, prenatal findings and review.
Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Rivière JP, Rossignol S. Alessandri JL, et al. Among authors: rossignol s. Am J Med Genet A. 2008 Oct 1;146A(19):2532-7. doi: 10.1002/ajmg.a.32391. Am J Med Genet A. 2008. PMID: 18780370 Review.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A. Vuillaume ML, et al. Among authors: rossignol s. Hum Mutat. 2018 Jun;39(6):790-805. doi: 10.1002/humu.23428. Epub 2018 Apr 24. Hum Mutat. 2018. PMID: 29637653
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S. Brioude F, et al. Among authors: rossignol s. Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26077438
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
Isidor B, Bourdeaut F, Lafon D, Plessis G, Lacaze E, Kannengiesser C, Rossignol S, Pichon O, Briand A, Martin-Coignard D, Piccione M, David A, Delattre O, Jeanpierre C, Sévenet N, Le Caignec C. Isidor B, et al. Among authors: rossignol s. Eur J Hum Genet. 2013 Jul;21(7):784-7. doi: 10.1038/ejhg.2012.252. Epub 2012 Nov 21. Eur J Hum Genet. 2013. PMID: 23169491 Free PMC article.
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A. Vuillaume ML, et al. Among authors: rossignol s. Hum Mutat. 2018 Dec;39(12):2110-2112. doi: 10.1002/humu.23612. Epub 2018 Sep 17. Hum Mutat. 2018. PMID: 30447178 No abstract available.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A. Cottereau E, et al. Among authors: rossignol s. Am J Med Genet C Semin Med Genet. 2013 May;163C(2):92-105. doi: 10.1002/ajmg.c.31360. Epub 2013 Apr 18. Am J Med Genet C Semin Med Genet. 2013. PMID: 23606591 Review.
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
Ghanim M, Rossignol S, Delobel B, Irving M, Miller O, Devisme L, Plennevaux JL, Lucidarme-Rossi S, Manouvrier S, Salah A, Chivu O, Netchine I, Vincent-Delorme C. Ghanim M, et al. Among authors: rossignol s. Am J Med Genet A. 2013 Mar;161A(3):572-7. doi: 10.1002/ajmg.a.35691. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401077
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Trifard V, Giabicani E, Siffroi JP, Le Bouc Y, Netchine I, Brioude F. Heide S, et al. Among authors: rossignol s. J Med Genet. 2018 Mar;55(3):205-213. doi: 10.1136/jmedgenet-2017-104919. Epub 2017 Dec 9. J Med Genet. 2018. PMID: 29223973
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.
Keren B, Chantot-Bastaraud S, Brioude F, Mach C, Fonteneau E, Azzi S, Depienne C, Brice A, Netchine I, Le Bouc Y, Siffroi JP, Rossignol S. Keren B, et al. Among authors: rossignol s. Eur J Med Genet. 2013 Oct;56(10):546-50. doi: 10.1016/j.ejmg.2013.06.005. Epub 2013 Jul 24. Eur J Med Genet. 2013. PMID: 23892181
240 results