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221 results

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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. Among authors: laplanche jl. 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.
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: laplanche jl. 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.
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: laplanche jl. 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.
Genetics of Paget's disease of bone.
Michou L, Collet C, Laplanche JL, Orcel P, Cornélis F. Michou L, et al. Among authors: laplanche jl. Joint Bone Spine. 2006 May;73(3):243-8. doi: 10.1016/j.jbspin.2005.05.009. Epub 2006 Jan 18. Joint Bone Spine. 2006. PMID: 16574459 Review.
221 results