Genetic causes of vascular malformationsBROUILLARD, Pascal; VIKKULA, Miikka.Human molecular genetics (Print). 2007, Vol 16, issn 0964-6906, R140-R149, NS2Article

From germline towards somatic mutations in the pathophysiology of vascular anomaliesLIMAYE, Nisha; BOON, Laurence M; VIKKULA, Miikka et al.Human molecular genetics (Print). 2009, Vol 18, issn 0964-6906, R65-R74, NS1Article

Glomuvenous malformation (glomangioma) and venous malformation: Distinct clinicopathologic and genetic entitiesBOON, Laurence M; MULLIKEN, John B; ENJOLRAS, Odile et al.Archives of dermatology (1960). 2004, Vol 140, Num 8, pp 971-976, issn 0003-987X, 6 p.Conference Paper

A novel mutation in the SDHD gene in a family with inherited paragangliomas-implications of genetic diagnosis for follow up and treatmentRENARD, Laurette; GODFRAIND, Catherine; BOON, Laurence M et al.Head & neck. 2003, Vol 25, Num 2, pp 146-151, issn 1043-3074, 6 p.Article

A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomalyGHASSIBE, Michella; BERNIER, Vincent; BOON, Laurence M et al.European journal of pediatrics. 2006, Vol 165, Num 10, pp 734-735, issn 0340-6199, 2 p.Article

Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in South-East GermanyZANARDO, Livia; STOLZ, Wilhelm; SCHMITZ, Gerd et al.Acta dermato-venereologica. 2004, Vol 84, Num 1, pp 57-60, issn 0001-5555, 4 p.Article

KITLG Mutations Cause Familial Progressive Hyper- and HypopigmentationAMYERE, Mustapha; VOGT, Thomas; HOO, Joe et al.Journal of investigative dermatology. 2011, Vol 131, Num 6, pp 1234-1239, issn 0022-202X, 6 p.Article

Localization of candidate regions for a novel gene for Kartagener syndromeGUTIERREZ-ROELENS, Ilse; SLUYSMANS, Thierry; JORISSEN, Mark et al.European journal of human genetics. 2006, Vol 14, Num 7, pp 809-815, issn 1018-4813, 7 p.Article

5q14.3 Neurocutaneous Syndrome: A Novel Continguous Gene Syndrome Caused by Simultaneous Deletion of RASA1 and MEF2CCARR, Christopher W; ZIMMERMAN, Holly H; LESE MARTIN, Christa et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 7, pp 1640-1645, issn 1552-4825, 6 p.Article

Interferon regulatory factor-6 : a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian populationGHASSIBE, Michella; BAYET, Benedicte; REVENCU, Nicole et al.European journal of human genetics. 2005, Vol 13, Num 11, pp 1239-1242, issn 1018-4813, 4 p.Article

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASH1 mutationsEEROLA, Iiro; BOON, Laurence M; MULLIKEN, John B et al.American journal of human genetics. 2003, Vol 73, Num 6, pp 1240-1249, issn 0002-9297, 10 p.Article

Cutaneous Venous Malformations in Familial Cerebral Cavernomatosis Caused by KRIT1 Gene MutationsTOLL, Agusti; PARERA, Elisabet; GIMENEZ-ARNAU, Ana M et al.Dermatology (Basel). 2009, Vol 218, Num 4, pp 307-313, issn 1018-8665, 7 p.Article

Hydrops fetalis : an unusual prenatal presentation of hereditary congenital lymphedemaDANIEL-SPIEGEL, Etty; GHALAMKARPOUR, Arash; SPIEGEL, Ronen et al.Prenatal diagnosis. 2005, Vol 25, Num 11, pp 1015-1018, issn 0197-3851, 4 p.Article

PTHR1 mutations associated with Ollier disease result in receptor loss of functionCOUVINEAU, Alain; WOUTERS, Vinciane; BERTRAND, Guylène et al.Human molecular genetics (Print). 2008, Vol 17, Num 18, pp 2766-2775, issn 0964-6906, 10 p.Article

TMEM165 Deficiency Causes a Congenital Disorder of GlycosylationFOULQUIER, François; AMYERE, Mustapha; DEMAEGD, Didier et al.American journal of human genetics. 2012, Vol 91, Num 1, pp 15-26, issn 0002-9297, 12 p.Article

Elevated D-dimer Level in the Differential Diagnosis of Venous MalformationsDOMPMARTIN, Anne; BALLIEUX, Fanny; BOON, Laurence M et al.Archives of dermatology (1960). 2009, Vol 145, Num 11, pp 1239-1244, issn 0003-987X, 6 p.Article

Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16BALIKOVA, Irina; MARTENS, Kevin; VIKKULA, Miikka et al.American journal of human genetics. 2008, Vol 82, Num 1, pp 181-187, issn 0002-9297, 7 p.Article

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and ChorioretinopathyOSTERGAARD, Pia; SIMPSON, Michael A; MARTINEZ-CORRAL, Ines et al.American journal of human genetics. 2012, Vol 90, Num 2, pp 356-362, issn 0002-9297, 7 p.Article

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndromePANSURIYA, Twinkal C; VAN EIJK, Ronald; WEZEL, Tom Van et al.Nature genetics. 2011, Vol 43, Num 12, pp 1256-1261, issn 1061-4036, 6 p.Article

Disruption of ST5 is associated with mental retardation and multiple congenital anomaliesGÖHRING, Ina; TAGARIELLO, Andreas; FITZPATRICK, David R et al.Journal of medical genetics. 2010, Vol 47, Num 2, pp 91-98, issn 0022-2593, 8 p.Article

Mutations in a novel factor, Glomulin, are responsible for glomuvenous malformations (Glomangiomas)BROUILLARD, Pascal; BOON, Laurence M; MULLIKEN, John B et al.American journal of human genetics. 2002, Vol 70, Num 4, pp 866-874, issn 0002-9297Article

Expression Profiling of Ependymomas Unravels Localization and Tumor Grade-Specific TumorigenesisPALM, Thomas; FIGARELLA-BRANGER, Dominique; CHAPON, Françoise et al.Cancer. 2009, Vol 115, Num 17, pp 3955-3968, issn 0008-543X, 14 p.Article

Sporadic In Utero Generalized Edema Caused by Mutations in the Lymphangiogenic Genes VEGFR3 and FOXC2GHALAMKARPOUR, Arash; DEBAUCHE, Christian; HAAN, Eric et al.The Journal of pediatrics. 2009, Vol 155, Num 1, pp 90-93, issn 0022-3476, 4 p.Article

Association of Localized Intravascular Coagulopathy With Venous MalformationsDOMPMARTIN, Anne; ACHER, Aurélie; VANWIJCK, Romain et al.Archives of dermatology (1960). 2008, Vol 144, Num 7, pp 873-877, issn 0003-987X, 5 p.Article

Alpha-cardiac actin mutations produce atrial septal defectsMATSSON, Hans; EASON, Jacqueline; GRANADOS-RIVERON, Javier et al.Human molecular genetics (Print). 2008, Vol 17, Num 2, pp 256-265, issn 0964-6906, 10 p.Article