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99 results

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Page 1
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM. Reynhout S, et al. Among authors: revencu n. Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27. Am J Hum Genet. 2019. PMID: 30595372 Free PMC article.
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: revencu n. Hum Genet. 2003 Nov;113(6):556. Hum Genet. 2003. PMID: 14640113 No abstract available.
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: revencu n. Hum Genet. 2003 Nov;113(6):557. Hum Genet. 2003. PMID: 14640117 No abstract available.
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: revencu n. Hum Genet. 2003 Nov;113(6):557. Hum Genet. 2003. PMID: 14640119 No abstract available.
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: revencu n. Hum Genet. 2003 Nov;113(6):558. Hum Genet. 2003. PMID: 14640120 No abstract available.
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: revencu n. Hum Genet. 2003 Nov;113(6):558. Hum Genet. 2003. PMID: 14640122 No abstract available.
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: revencu n. Hum Genet. 2007 Dec;122(5):549. Hum Genet. 2007. PMID: 18380023 No abstract available.
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: revencu n. Hum Genet. 2007 Dec;122(5):549-50. Hum Genet. 2007. PMID: 18383587 No abstract available.
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, Heimdal 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: revencu n. Hum Genet. 2007 Dec;122(5):550. Hum Genet. 2007. PMID: 18383588 No abstract available.
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, Heimdal 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: revencu n. Hum Genet. 2007 Dec;122(5):550. Hum Genet. 2007. PMID: 18383589 No abstract available.
99 results