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2007 1
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2020 4
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Page 1
[Kabuki syndrome: Update and review].
Arnaud M, Barat-Houari M, Gatinois V, Sanchez E, Lyonnet S, Touitou I, Geneviève D. Arnaud M, et al. Among authors: sanchez e. Arch Pediatr. 2015 Jun;22(6):653-60. doi: 10.1016/j.arcped.2015.03.020. Epub 2015 Apr 28. Arch Pediatr. 2015. PMID: 25934606 Review. French.
Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Among authors: sanchez e. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D. Margot H, et al. Among authors: sanchez e. Genet Med. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31. Genet Med. 2020. PMID: 31363182
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: sanchez e. Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7. Hum Mutat. 2016. PMID: 27302555
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C. Vincent M, et al. Among authors: sanchez e. Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Genet Med. 2016. PMID: 25790162
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Sanchez E, Laplace-Builhé B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Lüdecke HJ, Verheij JBGM, Moreau-Lenoir F, Denoyelle F, Rivière JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F, Geneviève D. Sanchez E, et al. Genet Med. 2020 Mar;22(3):547-556. doi: 10.1038/s41436-019-0669-9. Epub 2019 Oct 24. Genet Med. 2020. PMID: 31649276 Free PMC article.
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D. Grandemange S, et al. Among authors: sanchez e. Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13. Ann Rheum Dis. 2017. PMID: 27965258
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: sanchez e. Arthritis Rheumatol. 2020 Oct;72(10):1689-1693. doi: 10.1002/art.41387. Epub 2020 Aug 25. Arthritis Rheumatol. 2020. PMID: 32510848 Free article.
Anatomical and functional abnormalities on MRI in kabuki syndrome.
Boisgontier J, Tacchella JM, Lemaître H, Lehman N, Saitovitch A, Gatinois V, Boursier G, Sanchez E, Rechtman E, Fillon L, Lyonnet S, Le Quang Sang KH, Baujat G, Rio M, Boute O, Faivre L, Schaefer E, Sanlaville D, Zilbovicius M, Grévent D, Geneviève D, Boddaert N. Boisgontier J, et al. Among authors: sanchez e. Neuroimage Clin. 2019;21:101610. doi: 10.1016/j.nicl.2018.11.020. Epub 2018 Nov 19. Neuroimage Clin. 2019. PMID: 30497982 Free PMC article.
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, Toutain A, Odent S, Mikaty M, Goizet C, Taupiac E, Jacquemont ML, Sanchez E, Schaefer E, Gatinois V, Faivre L, Minot D, Kayirangwa H, Sang KLQ, Boddaert N, Bayard S, Lacombe D, Moutton S, Touitou I, Rio M, Amiel J, Lyonnet S, Sanlaville D, Picot MC, Geneviève D. Lehman N, et al. Among authors: sanchez e. Clin Genet. 2017 Sep;92(3):298-305. doi: 10.1111/cge.13010. Epub 2017 May 18. Clin Genet. 2017. PMID: 28295206 Free article.
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