Fabre A - Search Results

1

Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France.

Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, Delpech M, Amselem S, Touitou I; French CAPS study group. Cuisset L, et al. Among authors: fabre a. Ann Rheum Dis. 2011 Mar;70(3):495-9. doi: 10.1136/ard.2010.138420. Epub 2010 Nov 24. Ann Rheum Dis. 2011. PMID: 21109514

2

Combined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?

Pallares-Ruiz N, Philibert L, Dumont B, Fabre A, Cuisset L, Cointin E, Rittore C, Soler S, Touitou I. Pallares-Ruiz N, et al. Among authors: fabre a. PLoS One. 2010 Nov 23;5(11):e14096. doi: 10.1371/journal.pone.0014096. PLoS One. 2010. PMID: 21124859 Free PMC article.

3

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I. Barat-Houari M, et al. Among authors: fabre a. Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Hum Mutat. 2016. PMID: 26443184 Review.

4

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I. Barat-Houari M, et al. Among authors: fabre a. Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626311 Free PMC article.

5

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Tran Mau-Them F, Boualam A, Barat-Houari M, Jeandel C, Cottalorda J, Cormier-Daire V, Fabre A, Dumont B, Lefort G, Baujat G, Le Merrer M, Jorgensen C, Touitou I, Geneviève D. Tran Mau-Them F, et al. Among authors: fabre a. Am J Med Genet A. 2014 Mar;164A(3):769-73. doi: 10.1002/ajmg.a.36331. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357493

6

Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

Barat-Houari M, Baujat G, Tran Mau Them F, Fabre A, Geneviève D, Touitou I. Barat-Houari M, et al. Among authors: fabre a. Am J Med Genet A. 2016 Jan;170A(1):263-5. doi: 10.1002/ajmg.a.37374. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26358419 No abstract available.

7

Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.

Ruault V, Yauy K, Fabre A, Fradin M, Van-Gils J, Angelini C, Baujat G, Blanchet P, Cuinat S, Isidor B, Jorgensen C, Lacombe D, Moutton S, Odent S, Sanchez E, Sigaudy S, Touitou I, Willems M, Apparailly F, Geneviève D, Barat-Houari M. Ruault V, et al. Among authors: fabre a. Arthritis Rheumatol. 2020 Oct;72(10):1689-1693. doi: 10.1002/art.41387. Epub 2020 Aug 25. Arthritis Rheumatol. 2020. PMID: 32510848 Free article.

8

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. Bögershausen N, et al. Among authors: fabre a. Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7. Hum Mutat. 2016. PMID: 27302555

9

Familial hematological malignancies: ASXL1 gene investigation.

Hamadou WS, Abed RE, Besbes S, Bourdon V, Fabre A, Youssef YB, Laatiri MA, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Jemni SY, Noguchi T, Khélif A, Sobol H, Soua Z. Hamadou WS, et al. Among authors: fabre a. Clin Transl Oncol. 2016 Apr;18(4):385-90. doi: 10.1007/s12094-015-1379-7. Epub 2015 Aug 19. Clin Transl Oncol. 2016. PMID: 26286068

10

Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies.

Hamadou WS, Bourdon V, Gaildrat P, Besbes S, Fabre A, Youssef YB, Regaieg H, Laatiri MA, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Jemni SY, Noguchi T, Khélif A, Sobol H, Soua Z. Hamadou WS, et al. Among authors: fabre a. Ann Hematol. 2016 Jun;95(7):1043-50. doi: 10.1007/s00277-016-2678-y. Epub 2016 Apr 23. Ann Hematol. 2016. PMID: 27106701

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