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Miikka Vikkula

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Ludovic D'auria; Marisa Fenaux; Paulina Aleksandrowicz; Christophe Chantrain; Pierre J Courtoy; Patrick Van Der Smissen; Christiane Vermylen; Miikka Vikkula; Donatienne Tyteca
Micrometric segregation of fluorescent membrane lipids: relevance for endogenous lipids and biogenesis in erythrocytes.
Mustapha Amyere; Hélène Antoine-Poirel; Laurence M Boon; Pascal Brouillard; Olivier Devuyst; François P Duhoux; Odile Enjolras; Brendan McIntyre; John B Mulliken; Virginie Aerts; Michel Wassef; Miikka Vikkula
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
François Foulquier; Hudson H Freeze; Nathalie Guffon; Jaak Jaeken; Dominique Legrand; Mustapha Amyere; Willem ANNAERT; Riet Bammens; Neil Buist; David Cheillan; Didier Demaegd; Willy Morelle; Pierre Morsomme; Valérie Race; Claire Rosnoblet; Els Schollen; Emile Van Schaftingen; Miikka Vikkula; Renate Zeevaert; Gert Matthijs
TMEM165 deficiency causes a congenital disorder of glycosylation.

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All Publications

2013: Ludovic D'auria; Marisa Fenaux; Paulina Aleksandrowicz; Christophe Chantrain; Pierre J Courtoy; Patrick Van Der Smissen; Christiane Vermylen; Miikka Vikkula; Donatienne Tyteca
Micrometric segregation of fluorescent membrane lipids: relevance for endogenous lipids and biogenesis in erythrocytes.
Journal of lipid research 2013;54(4):1066-76.
2013: Mustapha Amyere; Hélène Antoine-Poirel; Laurence M Boon; Pascal Brouillard; Olivier Devuyst; François P Duhoux; Odile Enjolras; Brendan McIntyre; John B Mulliken; Virginie Aerts; Michel Wassef; Miikka Vikkula
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
American journal of human genetics 2013;92(2):188-96.
2012: François Foulquier; Hudson H Freeze; Nathalie Guffon; Jaak Jaeken; Dominique Legrand; Mustapha Amyere; Willem ANNAERT; Riet Bammens; Neil Buist; David Cheillan; Didier Demaegd; Willy Morelle; Pierre Morsomme; Valérie Race; Claire Rosnoblet; Els Schollen; Emile Van Schaftingen; Miikka Vikkula; Renate Zeevaert; Gert Matthijs
TMEM165 deficiency causes a congenital disorder of glycosylation.
American journal of human genetics 2012;91(1):15-26.
2012: Riikka Pietilä; Kristina H Pulkki; Pipsa Saharinen; Tuomas Tammela; Miikka Vikkula; Jaakko Kangas; Gou Young Koh; Nisha Limaye; Marjut Nätynki; Kari Alitalo; Lauri Eklund
Ligand oligomerization state controls Tie2 receptor trafficking and angiopoietin-2-specific responses.
Journal of cell science 2012;125(Pt 9):2212-23.
2012: Matthew G Butler; Susan L Dagenais; José L Garcia-Perez; Jeffrey W Innis; Peter J Strouse; Miikka Vikkula; Pascal Brouillard; Thomas W Glover
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.
American journal of medical genetics. Part A 2012;158A(4):839-49.
2012: Pia Ostergaard; Oliver Quarrell; Stefan Schulte-Merker; Michael A Simpson; Amihood Singer; Richard C Trembath; Andreas van Impel; Lut van Laer; Pradeep Vasudevan; Miikka Vikkula; Jules G Leroy; Bart Loeys; Taija Makinen; Sahar Mansour; Ines Martinez-Corral; Meriel McEntagart; Antonella Mendola; Anthony T Moore; Peter S Mortimer; Alexandros Onoufriadis; Martin G Bialer; Glen Brice; Fiona C Connell; Sophie Devery; Arash Ghalamkarpour; Steve Jeffery
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
American journal of human genetics 2012;90(2):356-62.
2012: Melanie Uebelhoer; Laurence M Boon; Miikka Vikkula
Vascular anomalies: from genetics toward models for therapeutic trials.
Cold Spring Harbor perspectives in medicine 2012;2(8):.
2011: Twinkal C Pansuriya; Luca Sangiorgi; Mikel San-Julian; Raf Sciot; Karoly Szuhai; Berkin Toker; Ronald van Eijk; Jolieke G van Oosterwijk; Maayke A J H van Ruler; Tom van Wezel; Sofie L J Verbeke; Miikka Vikkula; Anne-Marie Cleton-Jansen; Pio d'Adamo; Soeren Daugaard; Pim J French; Catherine Godfraind; Lars-Gunnar Kindblom; Marieke L Kuijjer; Kyle C Kurek; Bernadette Liegl-Atzwanger; Nisha Limaye; Daniëlle Meijer; Karolin H Nord; Jan Oosting; Laurence M Boon; Judith Bovee
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Nature genetics 2011;43(12):1256-61.
2011: Anne Dompmartin; Cathy Gaillard; Frank Hammer; Daniel Labbé; Robert Leroyer; Catherine Ollivier; Jacques Théron; Miikka Vikkula; Marie-Thérèse Barrellier; Xavier Blaizot; Valérie Chedru; Yannick Chene; Laurence M Boon
Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations.
European radiology 2011;21(12):2647-56.
2011: Erik Storkebaum; Miikka Vikkula; Annelies Quaegebeur; Peter Carmeliet
Cerebrovascular disorders: molecular insights and therapeutic opportunities.
Nature neuroscience 2011;14(11):1390-7.
2011: Elisa Goujon; Thierry Rousseau; Miikka Vikkula; Muriel Barat; Pascal Brouillard; Kelly M Cordoro; Ilona J Frieden; Pierre VABRES
Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites.
Pediatric dermatology 2011;28(5):528-31.
2011: Christopher W Carr; Christa Lese Martin; Miikka Vikkula; Holly H Zimmerman; Adam C Byrd; Omar A Abdul-Rahman
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
American journal of medical genetics. Part A 2011;155A(7):1640-5.
2011: Mustapha Amyere; Thomas Vogt; Joe Hoo; Flemming Brandrup; Anette Bygum; Laurence Boon; Miikka Vikkula
KITLG mutations cause familial progressive hyper- and hypopigmentation.
The Journal of investigative dermatology 2011;131(6):1234-9.
2011: Margot E Bowen; Eric D Boyden; Ingrid A Holm; Belinda Campos-Xavier; Luisa Bonafé; Andrea Superti-Furga; Shiro Ikegawa; Valerie Cormier-Daire; Judith Bovee; Twinkal C Pansuriya; Sérgio B de Sousa; Ravi Savarirayan; Elena Andreucci; Miikka Vikkula; Livia Garavelli; Caroline Pottinger; Toshihiko Ogino; Akinori Sakai; Bianca M Regazzoni; Wim Wuyts; Luca Sangiorgi; Elena Pedrini; Mei Zhu; Harry P Kozakewich; James R Kasser; Jon G Seidman; Kyle C Kurek; Matthew L Warman
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
PLoS genetics 2011;7(4):e1002050.
2011: Alexandre Persu; Miikka Vikkula
A genome-wide association study-derived candidate gene seeks replication: STK39.
Journal of hypertension 2011;29(3):434-6.
2011: Michella Ghassibe-Sabbagh; Laurence Desmyter; Tobias Langenberg; Filip Claes; Odile Boute; Bénédicte Bayet; Philippe Pellerin; Karlien Hermans; Liesbeth Backx; Maria Adela Mansilla; Sandra Imoehl; Stefanie Nowak; Kerstin U Ludwig; Carlotta Baluardo; Melissa Ferrian; Peter Anthony Mossey; Markus Noethen; Mieke Dewerchin; Geneviève François; Nicole Revencu; Romain Vanwijck; Jacqueline Hecht; Elisabeth Mangold; Jeffrey Murray; Michele Rubini; Joris R Vermeesch; Hélène A Poirel; Peter Carmeliet; Miikka Vikkula
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
American journal of human genetics 2011;88(2):150-61.
2011: Laurence M Boon; Fanny Ballieux; Miikka Vikkula
Pathogenesis of vascular anomalies.
Clinics in plastic surgery 2011;38(1):7-19.
2010: S Greenberger; Haike Reznik-Wolf; Arash Ghalamkarpour; D Marek-Yagel; Miikka Vikkula; E Pras
Severe congenital lymphoedema not caused by mutations in known lymphoedema genes.
The British journal of dermatology 2010;163(6):1358-60.
2010: Vinciane Wouters; Nisha Limaye; Melanie Uebelhoer; Alexandre Irrthum; Laurence M Boon; John B Mulliken; Odile Enjolras; Eulalia Baselga; Jonathan Berg; Anne Dompmartin; Sten-A Ivarsson; Loshan Kangesu; Yves Lacassie; Jill Murphy; Ahmad S Teebi; Anthony Penington; Paul Rieu; Miikka Vikkula
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
European journal of human genetics : EJHG 2010;18(4):414-20.
2010: Ina Göhring; Andreas Tagariello; Sabine Endele; Claus C Stolt; Michella Ghassibé; Malcolm Fisher; Christian T Thiel; Udo Trautmann; Miikka Vikkula; Andreas Winterpacht; David R FitzPatrick; Anita Rauch
Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.
Journal of medical genetics 2010;47(2):91-8.
2010: Elsa Wiame; Donatienne Tyteca; Nathalie Pierrot; François Collard; Mustapha Amyere; Gaëtane Noel; Jonathan Desmedt; Marie-Cécile Nassogne; Miikka Vikkula; Jean-Noël Octave; Marie-Françoise Vincent; Pierre J Courtoy; Eugen Boltshauser; Emile Van Schaftingen
Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.
The Biochemical journal 2010;425(1):127-36.
2009: Anne Dompmartin; Fanny Ballieux; Pascal Thibon; Agnès Lequerrec; Cédric Hermans; Philippe Clapuyt; Marie-Thérèse Barrellier; Franck Hammer; Daniel Labbé; Miikka Vikkula; Laurence M Boon
Elevated D-dimer level in the differential diagnosis of venous malformations.
Archives of dermatology 2009;145(11):1239-44.
2009: Thomas Palm; Dominique Figarella-Branger; Françoise Chapon; Catherine Lacroix; Françoise Gray; Francesco Scaravilli; David W Ellison; Isabelle Salmon; Miikka Vikkula; Catherine Godfraind
Expression profiling of ependymomas unravels localization and tumor grade-specific tumorigenesis.
Cancer 2009;115(17):3955-68.
2009: Arash Ghalamkarpour; Christian Debauche; Eric Haan; Nicole Van Regemorter; Yves Sznajer; Dominique Thomas; Nicole Revencu; Yves Gillerot; Laurence M Boon; Miikka Vikkula
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.
The Journal of pediatrics 2009;155(1):90-3.
2009: A Ghalamkarpour; W Holnthoner; P Saharinen; Laurence M Boon; John B Mulliken; K Alitalo; Miikka Vikkula
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.
Journal of medical genetics 2009;46(6):399-404.
2009: Evelyne Vanneste; Thierry Voet; Cédric Le Caignec; Michèle Ampe; Peter Konings; Cindy Melotte; Sophie Debrock; Mustapha Amyere; Miikka Vikkula; Frans Schuit; Jean-Pierre Fryns; Geert Verbeke; Thomas M D'Hooghe; Yves Moreau; Joris R Vermeesch
Chromosome instability is common in human cleavage-stage embryos.
Nature medicine 2009;15(5):577-83.
2009: Nisha Limaye; Laurence M Boon; Miikka Vikkula
From germline towards somatic mutations in the pathophysiology of vascular anomalies.
Human molecular genetics 2009;18(R1):R65-74.
2009: Renata L L Ferreira de Lima; Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antonio Richieri-Costa; Danilo Moretti-Ferreira; Jeffrey C Murray; Brian C Schutte
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.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(4):241-7.
2009: Laurence M Boon; Miikka Vikkula
From blue jeans to blue genes.
The Journal of craniofacial surgery 2009;20 Suppl 1():703-6.
2009: Agustí Toll; Elisabet Parera; Ana M Giménez-Arnau; Alejandro Pou; Josep Lloreta; Nisha Limaye; Miikka Vikkula; Ramon M Pujol
Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.
Dermatology (Basel, Switzerland) 2009;218(4):307-13.
2009: Alexandre Persu; Mustapha Amyere; Ilse Gutierrez-Roelens; Pierre Rustin; Christine Sempoux; Frédéric E Lecouvet; Bernard E Van Beers; yves horsmans; Jean-François De Plaen; Miikka Vikkula
Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity.
Journal of hypertension 2009;27(1):76-82.
2009: Nisha Limaye; Vinciane Wouters; Melanie Uebelhoer; Marjut Tuominen; Riikka Wirkkala; John B Mulliken; Lauri Eklund; Laurence M Boon; Miikka Vikkula
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
Nature genetics 2009;41(1):118-24.
2008: Masatoshi Jinnin; Damian Medici; Lucy Park; Nisha Limaye; Yanqiu Liu; Elisa Boscolo; Joyce Bischoff; Miikka Vikkula; Eileen Boye; Bjorn R Olsen
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.
Nature medicine 2008;14(11):1236-46.
2008: Alain Couvineau; Vinciane Wouters; Guylène Bertrand; Christiane Rouyer; Bénédicte Gérard; Laurence M Boon; Bernard Grandchamp; Miikka Vikkula; Caroline Silve
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
Human molecular genetics 2008;17(18):2766-75.
2008: Anne Dompmartin; Aurélie Acher; Pascal Thibon; Sébastien Tourbach; Cédric Hermans; Véronique Deneys; Ben Pocock; Agnès Lequerrec; Daniel Labbé; Marie-Thérèse Barrellier; Romain Vanwijck; Miikka Vikkula; Laurence M Boon
Association of localized intravascular coagulopathy with venous malformations.
Archives of dermatology 2008;144(7):873-7.
2008: Alexandre Persu; Marc Hamoir; Vincent Grégoire; Pierre Garin; Etienne Duvivier; Hervé Reychler; Gilbert Chantrain; Geert Mortier; Michel Mourad; Dominique Maiter; Miikka Vikkula
High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.
Journal of hypertension 2008;26(7):1395-401.
2008: Hans Matsson; Jacqueline Eason; Carol S Bookwalter; Joakim Klar; Peter Gustavsson; Jan Sunnegårdh; Henrik Enell; Anders Jonzon; Miikka Vikkula; Ilse Gutierrez; Javier Granados-Riveron; Mark Pope; Frances Bu'Lock; Jane Cox; Thelma E Robinson; Feifei Song; David J Brook; Steven Marston; Kathleen M Trybus; Niklas Dahl
Alpha-cardiac actin mutations produce atrial septal defects.
Human molecular genetics 2008;17(2):256-65.
2008: Imen Ben Rebeh; Zeineb Benzina; Houria Dhouib; Imen Hadjamor; Mustapha Amyere; Leila Ayadi; Khalil Turki; Bouthaina Hammami; Noureddine Kmiha; Hassen Kammoun; Bochra Hakim; Ilhem Charfedine; Miikka Vikkula; Abdelmonem Ghorbel; Hammadi Ayadi; Saber Masmoudi
Identification of candidate regions for a novel Usher syndrome type II locus.
Molecular vision 2008;14():1719-26.
2008: Irina Balikova; Kevin Martens; Cindy Melotte; Mustapha Amyere; Steven Van Vooren; Yves Moreau; David Vetrie; Heike Fiegler; Nigel P Carter; Thomas Liehr; Miikka Vikkula; Gert Matthijs; Jean-Pierre Fryns; Ingele Casteels; koenraad devriendt; Joris R Vermeesch
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
American journal of human genetics 2008;82(1):181-7.
2007: Pascal Brouillard; Miikka Vikkula
Genetic causes of vascular malformations.
Human molecular genetics 2007;16 Spec No. 2():R140-9.
2007: Miikka Vikkula
Vascular pathologies. Angiogenomics: towards a genetic nosology and understanding of vascular anomalies.
European journal of human genetics : EJHG 2007;15(8):821-2.
2007: Emmanuel Rousseau; Thomas Palm; Francesco Scaravilli; Marie-Magdeleine Ruchoux; Dominique Figarella-Branger; Isabelle Salmon; David Ellison; Catherine Lacroix; Françoise Chapon; Jacqueline Mikol; Miikka Vikkula; Catherine Godfraind
Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma.
Molecular cancer 2007;6():47.
2006: Ilse Gutierrez-Roelens; Luc De Roy; Caroline Ovaert; Thierry Sluysmans; koenraad devriendt; Han G Brunner; Miikka Vikkula
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
European journal of human genetics : EJHG 2006;14(12):1313-6.
2006: Bettina Lorenz-Depiereux; Murat Bastepe; Anna Benet-Pagès; Mustapha Amyere; Janine Wagenstaller; Ursula Müller-Barth; Klaus Badenhoop; Stephanie M Kaiser; Roger S Rittmaster; Alan H Shlossberg; José L Olivares; César Loris; Feliciano J Ramos; Francis Glorieux; Miikka Vikkula; Harald Jüppner; Tim M Strom
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Nature genetics 2006;38(11):1248-50.
2006: Arash Ghalamkarpour; S Morlot; A Raas-Rothschild; A Utkus; John B Mulliken; Laurence M Boon; Miikka Vikkula
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
Clinical genetics 2006;70(4):330-5.
2006: Michella Ghassibé; Vincent Bernier; Laurence M Boon; Miikka Vikkula
A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly.
European journal of pediatrics 2006;165(10):734-5.
2006: Nicole Revencu; Miikka Vikkula
Cerebral cavernous malformation: new molecular and clinical insights.
Journal of medical genetics 2006;43(9):716-21.
2006: D Casanova; L-M Boon; Miikka Vikkula
[Venous malformations: clinical characteristics and differential diagnosis].
Annales de chirurgie plastique et esthétique 2006;51(4-5):373-87.
2006: Susan Bayliss Mallory; Odile Enjolras; Laurence M Boon; Erica Rogers; David R Berk; Francine Blei; Eulalia Baselga; Anne-Marie Ros; Miikka Vikkula
Congenital plaque-type glomuvenous malformations presenting in childhood.
Archives of dermatology 2006;142(7):892-6.
2006: Ilse Gutierrez-Roelens; Thierry Sluysmans; Mark Jorissen; Mustapha Amyere; Miikka Vikkula
Localization of candidate regions for a novel gene for Kartagener syndrome.
European journal of human genetics : EJHG 2006;14(7):809-15.
2006: Michella Ghassibe; Benedicte Bayet; Nicole Revencu; L Desmyter; Christine Verellen-Dumoulin; Yves Gillerot; Naima Deggouj; Romain Vanwijck; Miikka Vikkula
Orofacial clefting: update on the role of genetics.
B-ENT 2006;2 Suppl 4():20-4.
2006: Ronen Spiegel; Arash Ghalamkarpour; Etty Daniel-Spiegel; Miikka Vikkula; Stavit A Shalev
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
Journal of human genetics 2006;51(10):846-50.
2005: Etty Daniel-Spiegel; Arash Ghalamkarpour; Ronen Spiegel; Ehud Weiner; Miikka Vikkula; eliezer shalev; Stavit A Shalev
Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.
Prenatal diagnosis 2005;25(11):1015-8.
2005: Michella Ghassibé; Benedicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Yves Gillerot; Romain Vanwijck; Miikka Vikkula
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.
European journal of human genetics : EJHG 2005;13(11):1239-42.
2005: Laurence M Boon; John B Mulliken; Miikka Vikkula
RASA1: variable phenotype with capillary and arteriovenous malformations.
Current opinion in genetics & development 2005;15(3):265-9.
2005: Pascal Brouillard; Michella Ghassibé; A Penington; Laurence M Boon; Anne Dompmartin; I K Temple; M Cordisco; D Adams; F Piette; J I Harper; S Syed; F Boralevi; A Taïeb; S Danda; E Baselga; Odile Enjolras; John B Mulliken; Miikka Vikkula
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
Journal of medical genetics 2005;42(2):e13.
2004: Rim Rzem; Maria Veiga-da-Cunha; Gaëtane Noël; Sophie Goffette; Marie-Cécile Nassogne; Brahim Tabarki; Christina Schöller; Thorsten Marquardt; Miikka Vikkula; Emile Van Schaftingen
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(48):16849-54.
2004: Laurence M Boon; John B Mulliken; Odile Enjolras; Miikka Vikkula
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities.
Archives of dermatology 2004;140(8):971-6.
2004: Brendan McIntyre; Pascal Brouillard; Virginie Aerts; Ilse Gutierrez-Roelens; Miikka Vikkula
Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse.
Gene expression patterns : GEP 2004;4(3):351-8.
2004: Michella Ghassibé; Nicole Revencu; Benedicte Bayet; Yves Gillerot; Romain Vanwijck; Christine Verellen-Dumoulin; Miikka Vikkula
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
Journal of medical genetics 2004;41(2):e15.
2004: Livia Zanardo; Wilhelm Stolz; Gerd Schmitz; Wolfgang E Kaminski; Miikka Vikkula; Michael Landthaler; Thomas Vogt
Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany.
Acta dermato-venereologica 2004;84(1):57-60.
2003: Iiro Eerola; Laurence M Boon; John B Mulliken; Patricia E Burrows; Anne Dompmartin; Shoji Watanabe; Romain Vanwijck; Miikka Vikkula
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
American journal of human genetics 2003;73(6):1240-9.
2003: Emmanuel Rousseau; Marie-Magdeleine Ruchoux; Francesco Scaravilli; Françoise Chapon; Matthieu Vinchon; C De Smet; Catherine Godfraind; Miikka Vikkula
CDKN2A, CDKN2B and p14ARF are frequently and differentially methylated in ependymal tumours.
Neuropathology and applied neurobiology 2003;29(6):574-83.
2003: Michella Ghassibe; Nicole Revencu; Benedicte Bayet; Yves Gillerot; Romain Vanwijck; Christine Verellen-Dumoulin; Miikka Vikkula
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Human genetics 2003;113(6):558.
2003: Michella Ghassibe; Nicole Revencu; Benedicte Bayet; Yves Gillerot; Romain Vanwijck; Christine Verellen-Dumoulin; Miikka Vikkula
Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.
Human genetics 2003;113(6):558.
2003: Michella Ghassibe; Nicole Revencu; Benedicte Bayet; Yves Gillerot; Romain Vanwijck; Christine Verellen-Dumoulin; Miikka Vikkula
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Human genetics 2003;113(6):558.
2003: Michella Ghassibe; Nicole Revencu; Benedicte Bayet; Yves Gillerot; Romain Vanwijck; Christine Verellen-Dumoulin; Miikka Vikkula
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Human genetics 2003;113(6):557.
2003: Michella Ghassibe; Nicole Revencu; Benedicte Bayet; Yves Gillerot; Romain Vanwijck; Christine Verellen-Dumoulin; Miikka Vikkula
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Human genetics 2003;113(6):557.
2003: Michella Ghassibe; Nicole Revencu; Benedicte Bayet; Yves Gillerot; Romain Vanwijck; Christine Verellen-Dumoulin; Miikka Vikkula
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Human genetics 2003;113(6):556.
2003: Catherine Godfraind; Emmanuel Rousseau; Marie-Magdeleine Ruchoux; Francesco Scaravilli; Miikka Vikkula
Tumour necrosis and microvascular proliferation are associated with 9p deletion and CDKN2A alterations in 1p/19q-deleted oligodendrogliomas.
Neuropathology and applied neurobiology 2003;29(5):462-71.
2003: Alexandre Irrthum; koenraad devriendt; David Chitayat; Gert Matthijs; Conrad Glade; Peter M Steijlen; Jean-Pierre Fryns; Maurice A M van Steensel; Miikka Vikkula
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
American journal of human genetics 2003;72(6):1470-8.
2003: Pascal Brouillard; Miikka Vikkula
Vascular malformations: localized defects in vascular morphogenesis.
Clinical genetics 2003;63(5):340-51.
2003: Laurette Renard; Catherine Godfraind; Laurence M Boon; Miikka Vikkula
A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.
Head & neck 2003;25(2):146-51.
2002: Ilse Gutierrez-Roelens; Thierry Sluysmans; Marc Gewillig; koenraad devriendt; Miikka Vikkula
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.
Human mutation 2002;20(1):75-6.
2002: Iiro Eerola; Laurence M Boon; Shoji Watanabe; Henri Grynberg; John B Mulliken; Miikka Vikkula
Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q.
European journal of human genetics : EJHG 2002;10(6):375-80.
2002: Pascal Brouillard; Laurence M Boon; John B Mulliken; Odile Enjolras; Michella Ghassibé; Matthew L Warman; O T Tan; Bjorn R Olsen; Miikka Vikkula
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").
American journal of human genetics 2002;70(4):866-74.
2001: Miikka Vikkula; Laurence M Boon; John B Mulliken
Molecular genetics of vascular malformations.
Matrix biology : journal of the International Society for Matrix Biology 2001;20(5-6):327-35.
2001: Iiro Eerola; Brendan McIntyre; Miikka Vikkula
Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.
Biochimica et biophysica acta 2001;1517(3):464-7.
2001: Alexandre Irrthum; Pascal Brouillard; Odile Enjolras; Neil F Gibbs; L F Eichenfield; Bjorn R Olsen; John B Mulliken; Laurence M Boon; Miikka Vikkula
Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.
European journal of human genetics : EJHG 2001;9(1):34-8.
2000: Alexandre Irrthum; M J Karkkainen; koenraad devriendt; K Alitalo; Miikka Vikkula
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
American journal of human genetics 2000;67(2):295-301.
2000: Pascal Brouillard; Bjorn R Olsen; Miikka Vikkula
High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22.
Genomics 2000;67(1):96-101.
2000: Iiro Eerola; K H Plate; R Spiegel; Laurence M Boon; John B Mulliken; Miikka Vikkula
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.
Human molecular genetics 2000;9(9):1351-5.
1999: S Annunen; Jarmo Körkkö; M Czarny; Matthew L Warman; H G Brunner; Helena Kääriäinen; J B Mulliken; Lisbeth Tranebjaerg; D G Brooks; G F Cox; J R Cruysberg; M A Curtis; S L Davenport; C A Friedrich; Ilkka Kaitila; Maciej R Krawczynski; Anna Latos-Bielenska; S Mukai; Bjorn R Olsen; N Shinno; Mirja Somer; Miikka Vikkula; J Zlotogora; Darwin J Prockop; Leena Ala-Kokko
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
American journal of human genetics 1999;65(4):974-83.
1999: Maria Veiga-da-Cunha; Isabelle Gerin; Y T Chen; P J Lee; J V Leonard; I Maire; U Wendel; Miikka Vikkula; Emile Van Schaftingen
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
European journal of human genetics : EJHG 1999;7(6):717-23.
1999: Laurence M Boon; Pascal Brouillard; Alexandre Irrthum; L Karttunen; Matthew L Warman; R Rudolph; John B Mulliken; Bjorn R Olsen; Miikka Vikkula
A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.
American journal of human genetics 1999;65(1):125-33.
1998: Miikka Vikkula; L M Boon; J B Mulliken; B R Olsen
Molecular basis of vascular anomalies.
Trends in cardiovascular medicine 1998;8(7):281-92.
1998: Maria Veiga-da-Cunha; Isabelle Gerin; Y T Chen; T de Barsy; P de Lonlay; Carlo Dionisi Vici; C D Fenske; P J Lee; J V Leonard; I Maire; A McConkie-Rosell; S Schweitzer; Miikka Vikkula; Emile Van Schaftingen
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.
American journal of human genetics 1998;63(4):976-83.
1998: Harald Jüppner; Ernestina Schipani; Murat Bastepe; D E Cole; M L Lawson; M Mannstadt; Geoffrey N Hendy; Horacio Plotkin; Hiroyuki Koshiyama; T Koh; J D Crawford; Bjorn R Olsen; Miikka Vikkula
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(20):11798-803.
1996: Miikka Vikkula; L M Boon; Kermit L Carraway; J T Calvert; A J Diamonti; B Goumnerov; K A Pasyk; Douglas A Marchuk; Matthew L Warman; Lewis C Cantley; J B Mulliken; Bjorn R Olsen
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.
Cell 1996;87(7):1181-90.
1996: Miikka Vikkula; Bjorn R Olsen
Unravelling the molecular genetics of osteoarthrosis.
Annals of medicine 1996;28(4):301-4.
1996: Y Gong; Miikka Vikkula; L Boon; J Liu; P Beighton; R Ramesar; L Peltonen; H Somer; T Hirose; B Dallapiccola; A De Paepe; W Swoboda; B Zabel; andrea superti-furga; B Steinmann; H G Brunner; A Jans; R G Boles; W Adkins; M J van den Boogaard; Bjorn R Olsen; Matthew L Warman
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
American journal of human genetics 1996;59(1):146-51.
1995: P Ritvaniemi; Jarmo Körkkö; Jacky Bonaventure; Miikka Vikkula; J Hyland; Petteri Paassilta; I Kaitila; Helena Kääriäinen; B P Sokolov; M Hakala
Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis.
Arthritis and rheumatism 1995;38(7):999-1004.
1995: Carol J Gallione; K A Pasyk; L M Boon; F Lennon; D W Johnson; E A Helmbold; Dorene S Markel; Miikka Vikkula; J B Mulliken; Matthew L Warman
A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
Journal of medical genetics 1995;32(3):197-9.
1995: Miikka Vikkula; Edwin C M Mariman; V C Lui; N I Zhidkova; George E Tiller; M B Goldring; Sylvia van Beersum; Maarten C de Waal Malefijt; F H van den Hoogen; Hans-Hilger Ropers
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
Cell 1995;80(3):431-7.
1994: L M Boon; J B Mulliken; Miikka Vikkula; H Watkins; J Seidman; Bjorn R Olsen; Matthew L Warman
Assignment of a locus for dominantly inherited venous malformations to chromosome 9p.
Human molecular genetics 1994;3(9):1583-7.
1994: Miikka Vikkula; M Metsäranta; Leena Ala-Kokko
Type II collagen mutations in rare and common cartilage diseases.
Annals of medicine 1994;26(2):107-14.
1993: Miikka Vikkula; Martti Nissilä; E Hirvensalo; P Nuotio; A Palotie; K Aho; Leena Peltonen
Multiallelic polymorphism of the cartilage collagen gene: no association with osteoarthrosis.
Annals of the rheumatic diseases 1993;52(10):762-4.
1993: Miikka Vikkula; P Ritvaniemi; Alpo Vuorio; Ilkka Kaitila; Leena Ala-Kokko; Leena Peltonen
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
Genomics 1993;16(1):282-5.
1993: Miikka Vikkula; A Palotie; P Ritvaniemi; J Ott; Leena Ala-Kokko; U Sievers; K Aho; Leena Peltonen
Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.
Arthritis and rheumatism 1993;36(3):401-9.
1992: Miikka Vikkula; M Metsäranta; A C Syvänen; Leena Ala-Kokko; E Vuorio; Leena Peltonen
Structural analysis of the regulatory elements of the type-II procollagen gene. Conservation of promoter and first intron sequences between human and mouse.
The Biochemical journal 1992;285 ( Pt 1)():287-94.