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89 results

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Page 1
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Among authors: roume j. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.
Cavé H, Caye A, Ghedira N, Capri Y, Pouvreau N, Fillot N, Trimouille A, Vignal C, Fenneteau O, Alembik Y, Alessandri JL, Blanchet P, Boute O, Bouvagnet P, David A, Dieux Coeslier A, Doray B, Dulac O, Drouin-Garraud V, Gérard M, Héron D, Isidor B, Lacombe D, Lyonnet S, Perrin L, Rio M, Roume J, Sauvion S, Toutain A, Vincent-Delorme C, Willems M, Baumann C, Verloes A. Cavé H, et al. Among authors: roume j. Eur J Hum Genet. 2016 Aug;24(8):1124-31. doi: 10.1038/ejhg.2015.273. Epub 2016 Jan 13. Eur J Hum Genet. 2016. PMID: 26757980 Free PMC article.
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: roume 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
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V. Dubourg C, et al. Among authors: roume j. Hum Mutat. 2016 Dec;37(12):1329-1339. doi: 10.1002/humu.23038. Epub 2016 Aug 23. Hum Mutat. 2016. PMID: 27363716 Free article.
Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Among authors: roume j. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365 Free article.
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. Démurger F, et al. Among authors: roume j. Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736735 Free PMC article.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: roume j. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study; Attié-Bitach T, Boutaud L, Héron D, Mignot C. Depienne C, et al. Among authors: roume j. Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10. Hum Genet. 2017. PMID: 28283832 Free PMC article.
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Farrington-Rock C, et al. Among authors: roume j. Hum Mutat. 2006 Jul;27(7):705-10. doi: 10.1002/humu.20348. Hum Mutat. 2006. PMID: 16752402
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: roume j. 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
89 results