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Page 1
Clinical and molecular genetic features of ARC syndrome.
Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, García-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA, Maher ER. Gissen P, et al. Among authors: leheup b. Hum Genet. 2006 Oct;120(3):396-409. doi: 10.1007/s00439-006-0232-z. Epub 2006 Aug 1. Hum Genet. 2006. PMID: 16896922
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: leheup b. 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.
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D. Seifert W, et al. Among authors: leheup b. J Med Genet. 2006 May;43(5):e22. doi: 10.1136/jmg.2005.039867. J Med Genet. 2006. PMID: 16648375 Free PMC article.
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N. Dauber A, et al. Among authors: leheup b. Am J Hum Genet. 2013 Nov 7;93(5):798-811. doi: 10.1016/j.ajhg.2013.09.010. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140112 Free PMC article.
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Nava C, et al. Among authors: leheup b. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. J Med Genet. 2007. PMID: 17704260 Free PMC article.
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L. El Chehadeh S, et al. Among authors: leheup b. J Med Genet. 2010 Aug;47(8):549-53. doi: 10.1136/jmg.2009.075028. J Med Genet. 2010. PMID: 20656880 Free article.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A. Prasad MK, et al. Among authors: leheup b. J Med Genet. 2016 Feb;53(2):98-110. doi: 10.1136/jmedgenet-2015-103302. Epub 2015 Oct 26. J Med Genet. 2016. PMID: 26502894 Free PMC article.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: leheup b. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097
222 results