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Page 1
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L. Masurel-Paulet A, et al. Among authors: mandel jl. Am J Med Genet A. 2016 Aug;170(8):2103-10. doi: 10.1002/ajmg.a.37765. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256868
Methylation and mutation patterns in the fragile X syndrome.
Malmgren H, Steén-Bondeson ML, Gustavson KH, Seémanova E, Holmgren G, Oberlé I, Mandel JL, Pettersson U, Dahl N. Malmgren H, et al. Among authors: mandel jl. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):268-78. doi: 10.1002/ajmg.1320430142. Am J Med Genet. 1992. PMID: 1605200
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H. Stoetzel C, et al. Among authors: mandel jl. J Hum Genet. 2006;51(1):81-84. doi: 10.1007/s10038-005-0320-2. Epub 2005 Nov 25. J Hum Genet. 2006. PMID: 16308660
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H. Muller J, et al. Among authors: mandel jl. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. Hum Genet. 2010. PMID: 20177705 Free PMC article.
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Schaefer E, Durand M, Stoetzel C, Doray B, Viville B, Hellé S, Danse JM, Hamel C, Bitoun P, Goldenberg A, Finck S, Faivre L, Sigaudy S, Holder M, Vincent MC, Marion V, Bonneau D, Verloes A, Nisand I, Mandel JL, Dollfus H. Schaefer E, et al. Among authors: mandel jl. Eur J Med Genet. 2011 Mar-Apr;54(2):157-60. doi: 10.1016/j.ejmg.2010.10.004. Epub 2010 Oct 29. Eur J Med Genet. 2011. PMID: 21044901
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
Cossée M, Faivre L, Philippe C, Hichri H, de Saint-Martin A, Laugel V, Bahi-Buisson N, Lemaitre JF, Leheup B, Delobel B, Demeer B, Poirier K, Biancalana V, Pinoit JM, Julia S, Chelly J, Devys D, Mandel JL. Cossée M, et al. Among authors: mandel jl. Am J Med Genet A. 2011 Jan;155A(1):98-105. doi: 10.1002/ajmg.a.33785. Am J Med Genet A. 2011. PMID: 21204215
390 results