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252 results

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Page 1
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.
Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F. Legendre M, et al. Among authors: melki j. Eur J Hum Genet. 2018 Feb;26(2):287-292. doi: 10.1038/s41431-017-0007-0. Epub 2017 Dec 18. Eur J Hum Genet. 2018. PMID: 29255276 Free PMC article.
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Pénisson-Besnier I, Fehrenbach S, Bou J, Frébourg T, Tosi M. Vezain M, et al. Among authors: melki j. Eur J Hum Genet. 2007 Oct;15(10):1054-62. doi: 10.1038/sj.ejhg.5201885. Epub 2007 Jul 4. Eur J Hum Genet. 2007. PMID: 17609673
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: melki j. Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19225462 Free PMC article.
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. Dieterich K, et al. Among authors: melki j. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. Hum Mol Genet. 2013. PMID: 23236030
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J. Laquérriere A, et al. Among authors: melki j. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319099
Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Naudion S, et al. Among authors: melki j. Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29. Clin Genet. 2016. PMID: 26404489
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I. Barat-Houari M, et al. Among authors: melki j. Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626311 Free PMC article.
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M. Krahn M, et al. Among authors: melki j. Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552423 Free PMC article.
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N; Orphanomix Physician’s Group; Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Eur J Hum Genet. 2019 Oct;27(10):1519-1531. doi: 10.1038/s41431-019-0442-1. Epub 2019 Jun 23. Eur J Hum Genet. 2019. PMID: 31231135 Free PMC article.
252 results