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Page 1
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. Zhang F, et al. Among authors: van maldergem l. Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493460 Free PMC article.
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. De Baere E, et al. Among authors: van maldergem l. Am J Hum Genet. 2003 Feb;72(2):478-87. doi: 10.1086/346118. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529855 Free PMC article.
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Cai J, et al. Among authors: van maldergem l. Hum Genet. 2003 Dec;114(1):68-76. doi: 10.1007/s00439-003-1012-7. Epub 2003 Sep 25. Hum Genet. 2003. PMID: 14513358
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC, Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY. Lu HC, et al. Among authors: van maldergem l. Nat Genet. 2017 Apr;49(4):527-536. doi: 10.1038/ng.3808. Epub 2017 Mar 13. Nat Genet. 2017. PMID: 28288114 Free PMC article.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P. Windpassinger C, et al. Among authors: van hul n, van maldergem l. Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003. Am J Hum Genet. 2017. PMID: 28886341 Free PMC article.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF. Piard J, et al. Among authors: van esch h, van maldergem l. Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426. Hum Mol Genet. 2018. PMID: 29267967 Free PMC article.
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Schöpflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, Cabrol C, Harms FL, Kornak U, Spielmann M, Mundlos S, Van Maldergem L. Melo US, et al. Among authors: van maldergem l. Hum Genet. 2021 Oct;140(10):1459-1469. doi: 10.1007/s00439-021-02344-6. Epub 2021 Aug 26. Hum Genet. 2021. PMID: 34436670 Free PMC article.
263 results