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Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.
de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP. de Kok YJ, et al. Among authors: lacombe d. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP. Lugtenberg D, et al. Among authors: lacombe d. Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5. Eur J Hum Genet. 2009. PMID: 18985075 Free PMC article.
Rubinstein-Taybi syndrome (CREBBP, EP300).
van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. van Belzen M, et al. Among authors: lacombe d. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28. Eur J Hum Genet. 2011. PMID: 20664634 Free PMC article. No abstract available.
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Verloes A, et al. Among authors: lacombe d. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052316 Free PMC article.
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al. Marsh DJ, et al. Among authors: lacombe d. Hum Mol Genet. 1998 Mar;7(3):507-15. doi: 10.1093/hmg/7.3.507. Hum Mol Genet. 1998. PMID: 9467011
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, Albrecht B, Passarge E, Annerén G, Blennow E, Clausen N, Galla-Voumvouraki A, Tsezou A, Kitsiou-Tzeli S, Hahnemann JM, Hertz JM, Houge G, Kuklík M, Macek M, Lacombe D, Miller K, Moncla A, López Pajares I, Patsalis PC, Petersen MB, et al. Karadima G, et al. Among authors: lacombe d. Eur J Hum Genet. 1998 Sep-Oct;6(5):432-8. doi: 10.1038/sj.ejhg.5200212. Eur J Hum Genet. 1998. PMID: 9801867
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.
Veltman JA, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns JP, Admiraal R, Terhal P, Lacombe D, van Kessel AG, Smeets D, Schoenmakers EF, van Ravenswaaij-Arts CM. Veltman JA, et al. Among authors: lacombe d. Am J Hum Genet. 2003 Jun;72(6):1578-84. doi: 10.1086/375695. Epub 2003 May 9. Am J Hum Genet. 2003. PMID: 12740760 Free PMC article.
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: lacombe d. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
666 results