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Page 1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: van esch h, van maldergem l, van bokhoven h, van roozendaal ke, van bommel a. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Desmyter L, Ghassibe M, Revencu N, Boute O, Lees M, François G, Verellen-Dumoulin C, Sznajer Y, Moncla A, Benateau H, Claes K, Devriendt K, Mathieu M, Van Maldergem L, Addor MC, Drouin-Garraud V, Mortier G, Bouma M, Dieux-Coeslier A, Genevieve D, Goldenberg A, Gozu A, Makrythanasis P, McEntagart U, Sanchez A, Vilain C, Vermeer S, Connell F, Verheij J, Manouvrier S, Pierquin G, Odent S, Holder-Espinasse M, Vincent-Delorme C, Gillerot Y, Vanwijck R, Bayet B, Vikkula M. Desmyter L, et al. Among authors: van maldergem l. Mol Syndromol. 2010;1(2):67-74. doi: 10.1159/000313786. Epub 2010 Jun 9. Mol Syndromol. 2010. PMID: 21045959 Free PMC article.
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N, Revencu N, Van Regemorter N, Garzon M, Bonduelle M, Chung W, Daras MD, Fahey MC, Garrett C, Gillerot Y, Gillessen-Kaesbach G, Giménez-Arnau A, Guzzetta F, Battaglia D, Heimda K, Lissens W, Taub E, Van Maldergem L, Van Paesschen W, Wieczorek D, Wood NW, Boon L, Vikkula M. Limaye N, et al. Among authors: van regemorter n, van paesschen w, van maldergem l. Hum Genet. 2007 Dec;122(5):549. Hum Genet. 2007. PMID: 18380023 No abstract available.
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. Buiting K, et al. Among authors: van den ouweland am, van maldergem l. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. De Baere E, et al. Among authors: van regemorter n, van maldergem l. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. Hum Mol Genet. 2001. PMID: 11468277
263 results