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    Results: 25

    1.

    Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.

    Ghalamkarpour A, Debauche C, Haan E, Van Regemorter N, Sznajer Y, Thomas D, Revencu N, Gillerot Y, Boon LM, Vikkula M.

    J Pediatr. 2009 Jul;155(1):90-3. Epub 2009 Apr 25.PMID: 19394045 [PubMed - indexed for MEDLINE]Related articles

    2.

    Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

    de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC.

    Genet Med. 2009 Apr;11(4):241-7.PMID: 19282774 [PubMed - indexed for MEDLINE]Related articles

    3.

    Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.

    Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M.

    Hum Mutat. 2008 Jul;29(7):959-65.PMID: 18446851 [PubMed - indexed for MEDLINE]Related articles

    4.

    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.

    Hum Genet. 2007 Dec;122(5):552. No abstract available. PMID: 18383597 [PubMed - indexed for MEDLINE]Related articles

    5.

    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.

    Hum Genet. 2007 Dec;122(5):552. No abstract available. PMID: 18383596 [PubMed - indexed for MEDLINE]Related articles

    6.

    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.

    Hum Genet. 2007 Dec;122(5):551. No abstract available. PMID: 18383595 [PubMed - indexed for MEDLINE]Related articles

    7.

    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.

    Hum Genet. 2007 Dec;122(5):552. No abstract available. PMID: 18383594 [PubMed - indexed for MEDLINE]Related articles

    8.

    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.

    Hum Genet. 2007 Dec;122(5):551. No abstract available. PMID: 18383593 [PubMed - indexed for MEDLINE]Related articles

    9.

    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.

    Hum Genet. 2007 Dec;122(5):551. No abstract available. PMID: 18383591 [PubMed - indexed for MEDLINE]Related articles

    10.

    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.

    Hum Genet. 2007 Dec;122(5):550. No abstract available. PMID: 18383590 [PubMed - indexed for MEDLINE]Related articles

    11.

    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.

    Hum Genet. 2007 Dec;122(5):550. No abstract available. PMID: 18383589 [PubMed - indexed for MEDLINE]Related articles

    12.

    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.

    Hum Genet. 2007 Dec;122(5):550. No abstract available. PMID: 18383588 [PubMed - indexed for MEDLINE]Related articles

    13.

    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.

    Hum Genet. 2007 Dec;122(5):549-50. No abstract available. PMID: 18383587 [PubMed - indexed for MEDLINE]Related articles

    14.

    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.

    Hum Genet. 2007 Dec;122(5):549. No abstract available. PMID: 18380023 [PubMed - indexed for MEDLINE]Related articles

    15.

    Orofacial clefting: update on the role of genetics.

    Ghassibe M, Bayet B, Revencu N, Desmyter L, Verellen-Dumoulin C, Gillerot Y, Deggouj N, Vanwijck R, Vikkula M; CL/P Study Group.

    B-ENT. 2006;2 Suppl 4:20-4.PMID: 17366841 [PubMed - indexed for MEDLINE]Related articles

    16.

    Cerebral cavernous malformation: new molecular and clinical insights.

    Revencu N, Vikkula M.

    J Med Genet. 2006 Sep;43(9):716-21. Epub 2006 Mar 29. Review.PMID: 16571644 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.

    Ghassibé M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R, Vikkula M.

    Eur J Hum Genet. 2005 Nov;13(11):1239-42.PMID: 16132054 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.

    Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

    J Med Genet. 2004 Feb;41(2):e15. No abstract available. PMID: 14757865 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Gene symbol: IRF6. Disease: Van der Woude syndrome.

    Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

    Hum Genet. 2003 Nov;113(6):558. No abstract available. PMID: 14640122 [PubMed - indexed for MEDLINE]Related articles

    20.

    Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

    Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

    Hum Genet. 2003 Nov;113(6):558. No abstract available. PMID: 14640121 [PubMed - indexed for MEDLINE]Related articles

    21.

    Gene symbol: IRF6. Disease: Van der Woude syndrome.

    Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

    Hum Genet. 2003 Nov;113(6):558. No abstract available. PMID: 14640120 [PubMed - indexed for MEDLINE]Related articles

    22.

    Gene symbol: IRF6. Disease: Van der Woude syndrome.

    Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

    Hum Genet. 2003 Nov;113(6):557. No abstract available. PMID: 14640119 [PubMed - indexed for MEDLINE]Related articles

    23.

    Gene symbol: IRF6. Disease: Van der Woude syndrome.

    Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

    Hum Genet. 2003 Nov;113(6):557. No abstract available. PMID: 14640117 [PubMed - indexed for MEDLINE]Related articles

    24.

    Gene symbol: IRF6. Disease: Van der Woude syndrome.

    Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.

    Hum Genet. 2003 Nov;113(6):556. No abstract available. PMID: 14640113 [PubMed - indexed for MEDLINE]Related articles

    25.

    Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.

    Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C.

    Eur J Pediatr. 2004 Jan;163(1):33-7. Epub 2003 Oct 30.PMID: 14586646 [PubMed - indexed for MEDLINE]Related articles

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