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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
Autoinflammatory gene mutations in Behçet's disease.
Koné-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I. Koné-Paut I, et al. Among authors: sanchez e. Ann Rheum Dis. 2007 Jun;66(6):832-4. doi: 10.1136/ard.2006.068841. Epub 2007 Jan 9. Ann Rheum Dis. 2007. PMID: 17213252 Free PMC article.
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D. Courcet JB, et al. Among authors: sanchez e. J Pediatr. 2013 Sep;163(3):742-6. doi: 10.1016/j.jpeds.2013.02.032. Epub 2013 Mar 25. J Pediatr. 2013. PMID: 23535010
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
Corsini C, Gencik M, Willems M, Decker E, Sanchez E, Puechberty J, Schneider A, Girard M, Edery P, Bretonnes P, Cottalorda J, Lefort G, Jeandel C, Sarda P, Genevieve D. Corsini C, et al. Among authors: sanchez e. Eur J Hum Genet. 2014 Jan;22(1):136-9. doi: 10.1038/ejhg.2013.56. Epub 2013 Apr 10. Eur J Hum Genet. 2014. PMID: 23572024 Free PMC article.
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D. Tran Mau-Them F, et al. Among authors: sanchez e. Eur J Hum Genet. 2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15. Eur J Hum Genet. 2014. PMID: 23674175 Free PMC article.
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E, Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D. Vincent M, et al. Among authors: sanchez e. Eur J Hum Genet. 2014 Jan;22(1):52-6. doi: 10.1038/ejhg.2013.98. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695276 Free PMC article.
Finger creases lend a hand in Kabuki syndrome.
Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, Busa T, Holder M, Faivre L, Odent S, Delrue MA, Till M, Jacquemont ML, Cordier MP, Goldenberg A, Sanchez E, Alix E, Poisson S, Kayirangwa H, Lacombe D, Gilbert-Dussardier B, Pelet A, Roume J, Jacquette A, Isidor B, Giuliano F, Burglen L, Fradin M, Schaefer E, Alembick Y, Doray B, Moncla A, Héron D, Willems M, Pinson L, Le Quan Sang KH, Le Merrer M, Cormier-Daire V, Sarda P, Amiel J, Lyonnet S, Geneviève D. Michot C, et al. Among authors: sanchez e. Eur J Med Genet. 2013 Oct;56(10):556-60. doi: 10.1016/j.ejmg.2013.07.005. Epub 2013 Aug 7. Eur J Med Genet. 2013. PMID: 23933090 Free article.
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 Free article.
2,272 results