Laplanche JL - Search Results

1

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.

Woimant F, Poujois A, Bloch A, Jordi T, Laplanche JL, Morel H, Collet C. Woimant F, et al. Among authors: laplanche jl. Mol Genet Genomic Med. 2020 Oct;8(10):e1428. doi: 10.1002/mgg3.1428. Epub 2020 Aug 8. Mol Genet Genomic Med. 2020. PMID: 32770663 Free PMC article.

2

High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.

Collet C, Laplanche JL, Page J, Morel H, Woimant F, Poujois A. Collet C, et al. Among authors: laplanche jl. BMC Med Genet. 2018 Aug 10;19(1):143. doi: 10.1186/s12881-018-0660-3. BMC Med Genet. 2018. PMID: 30097039 Free PMC article.

3

Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.

Chappuis P, Callebert J, Quignon V, Woimant F, Laplanche JL. Chappuis P, et al. Among authors: laplanche jl. J Trace Elem Med Biol. 2007;21(1):37-42. doi: 10.1016/j.jtemb.2006.11.002. Epub 2007 Jan 16. J Trace Elem Med Biol. 2007. PMID: 17317524

4

Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.

Collet C, Laplanche JL, de Vernejoul MC. Collet C, et al. Among authors: laplanche jl. Am J Med Genet A. 2013 Aug;161A(8):2074-7. doi: 10.1002/ajmg.a.36022. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824952

5

Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report.

Belkhribchia MR, Collet C, Laplanche JL, Hassani R. Belkhribchia MR, et al. Among authors: laplanche jl. Eur J Med Genet. 2014 Mar;57(4):133-7. doi: 10.1016/j.ejmg.2014.02.007. Epub 2014 Mar 1. Eur J Med Genet. 2014. PMID: 24594238

6

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes.

Collet C, Ostertag A, Ricquebourg M, Delecourt M, Tueur G, Isidor B, Guillot P, Schaefer E, Javier RM, Funck-Brentano T, Orcel P, Laplanche JL, Cohen-Solal M. Collet C, et al. Among authors: laplanche jl. JBMR Plus. 2017 Nov 6;2(1):12-21. doi: 10.1002/jbm4.10020. eCollection 2018 Jan. JBMR Plus. 2017. PMID: 30283887 Free PMC article.

7

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

di Rocco F, Baujat G, Arnaud E, Rénier D, Laplanche JL, Daire VC, Collet C. di Rocco F, et al. Among authors: laplanche jl. Eur J Hum Genet. 2014 Dec;22(12):1413-6. doi: 10.1038/ejhg.2014.57. Epub 2014 Apr 16. Eur J Hum Genet. 2014. PMID: 24736737 Free PMC article.

8

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornélis F, Launay JM, Orcel P, Laplanche JL. Collet C, et al. Among authors: laplanche jl. J Bone Miner Res. 2007 Feb;22(2):310-7. doi: 10.1359/jbmr.061106. J Bone Miner Res. 2007. PMID: 17129171 Free article.

9

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.

10

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.

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