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List of works by Miikka Vikkula

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

article

A Clinical Feasibility Study to Image Angiogenesis in Patients with Arteriovenous Malformations Using 68Ga-RGD PET/CT

scientific article published on 13 September 2019

A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

scientific article

A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.

scientific article

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

scientific article

A genome-wide association study-derived candidate gene seeks replication: STK39 ⬇️

scientific article published on March 1, 2011

A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

A novel association between RASA1 mutations and spinal arteriovenous anomalies

scientific article published on 10 December 2009

A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly

article

A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment

scientific article

Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis

scientific article published on 29 July 2020

Age-related heterogeneity of Burkitt lymphoma: response to Mbulaiteye and Anderson

scientific article published on 09 September 2016

Analysing ambiguities in trypanosomatids taxonomy by barcoding

scientific article published on 19 June 2020

Angiosarcoma arising from congenital primary lymphedema

scientific article published on 14 September 2018

Antenatal presentation of hereditary lymphedema type I.

scientific article

Arterial Tortuosity

scientific article published on 01 May 2019

Arteriovenous Malformation in Mice and Men

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis

scientific article published on 24 April 2019

Association of localized intravascular coagulopathy with venous malformations

scientific article published on July 2008

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

scientific article

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

scientific article

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

scientific article published on 08 June 2020

Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations

scientific article

Blue bleb rubber nevus syndrome

scientific article

CDKN2A, CDKN2B and p14ARF are frequently and differentially methylated in ependymal tumours

scientific article published in December 2003

Capillary Malformation-Arteriovenous Malformation Syndrome: A Report of 2 Cases, Diagnostic Criteria, and Management ⬇️

scientific article published on August 8, 2013

Capillary Malformation/Arteriovenous Malformation

scientific article published in 2013

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

scientific article

Cerebral cavernous malformation: new molecular and clinical insights

scientific article

Cerebrovascular disorders: molecular insights and therapeutic opportunities

scientific article published on 26 October 2011

Characterization of ANGPT2 mutations associated with primary lymphedema

scientific article published on 01 September 2020

Chromosome Instability Is Common in Human Cleavage-Stage Embryos

Chromosome instability is common in human cleavage-stage embryos

scientific article published on 26 April 2009

Classification et génétique des malformations vasculaires

Comment on "Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing"

scientific article published on 01 May 2017

Common and specific effects of TIE2 mutations causing venous malformations

scientific article

Common somatic alterations identified in maffucci syndrome by molecular karyotyping

scientific article

Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites

scientific article published on 07 December 2010

Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase

scientific article

Congenital plaque-type glomuvenous malformations presenting in childhood

scientific article published in July 2006

Correction: Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies.

scientific article published on 13 December 2011

Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations

scientific article

Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.

scientific article

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

scientific article

DNA alteration-based classification of uveal melanoma gives better prognostic stratification than immune infiltration, which has a neutral effect in high-risk group.

scientific article

Disorders of the Venous System

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

scientific article published on 19 October 2009

Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene

scientific article published on 01 March 1993

Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1

scientific article

Elevated D-dimer level in the differential diagnosis of venous malformations

scientific article published on November 2009

Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant Tie-2 causing venous malformations signals a distinct STAT activation response

scientific article published on January 1999

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

scientific article published on 08 September 2020

Etiology and Genetics of Congenital Vascular Lesions

scientific article published in February 2018

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

scientific article published on 2 October 2012

Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas

scientific article published on 17 August 2017

Expression profiling of ependymomas unravels localization and tumor grade-specific tumorigenesis

scientific article published on September 2009

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish

scientific article

First Draft Genome of the Trypanosomatid Herpetomonas muscarum ingenoplastis through MinION Oxford Nanopore Technology and Illumina Sequencing

scientific article published on 13 February 2020

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics

scientific article published on 25 March 2019

From blue jeans to blue genes

scientific article

From germline towards somatic mutations in the pathophysiology of vascular anomalies

scientific article published on April 2009

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

scientific article published on 8 March 2017

Genetic Aspects of Vascular Malformations

Genetic Causes of Lymphedema

Genetic causes of vascular malformations

scientific article published on 31 July 2007

Genetic differences between paediatric and adult Burkitt lymphomas

scientific article published on 16 February 2016

Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

scientific article

Genetics of lymphatic anomalies

scientific article

Genetics of vascular anomalies

scientific article published on 16 September 2020

Genetics of vascular malformations

scientific article published on 19 June 2014

Genomics of Fibromuscular Dysplasia.

scientific article

Genotypes and phenotypes of 162 families with a glomulin mutation

scientific article published on 26 March 2013

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

scientific article

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

scientific article published on 11 April 2013

Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree

scientific article published in February 2013

Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse

scientific article

Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities

scientific article published in August 2004

Guidance for the Management of Patients with Vascular Disease or Cardiovascular Risk Factors and COVID-19: Position Paper from VAS-European Independent Foundation in Angiology/Vascular Medicine

scientific article published on 13 September 2020

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

scientific article

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

article by A Ghalamkarpour et al published 4 September 2006 in Clinical Genetics

Heredity of port-wine stains: investigation of families without a RASA1 mutation

scientific article published on 12 March 2015

High prevalence of SDHB mutations in head and neck paraganglioma in Belgium

scientific article published in July 2008

High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22.

scientific article

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema

scientific article published in November 2005

Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene

scientific article published on 16 April 2014

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

scientific article

Identification of candidate regions for a novel Usher syndrome type II locus

scientific article published on 19 September 2008

Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis

article

Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

scientific article (publication date: 16 February 2001)

Incidence of Cellulitis among Children with Primary Lymphedema

scientific article published on 01 May 2018

Inheritance Patterns of Infantile Hemangioma

scientific article published on 12 October 2016

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

scientific article

Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene

scientific article published on 09 January 2013

Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus

scientific article published on 6 November 2015

KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors

article

KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

scientific article (publication date: 16 November 2001)

Letter: Is Developmental Venous Anomaly an Imaging Biomarker of PIK3CA Mutated Gliomas?

scientific article published on 01 January 2020

Ligand oligomerization state controls Tie2 receptor trafficking and angiopoietin-2-specific responses.

scientific article published on 22 February 2012

Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients

scientific article published on 22 October 2019

Liquid biopsy for mutational profiling of locoregional recurrent and/or metastatic head and neck squamous cell carcinoma

scientific article published on 10 March 2020

Localization of candidate regions for a novel gene for Kartagener syndrome

article

Locus for susceptibility for familial capillary malformation (‘port-wine stain’) maps to 5q

article

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

scientific article

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

scientific article

Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation.

scientific article published on 9 March 2012

Micrometric segregation of fluorescent membrane lipids: relevance for endogenous lipids and biogenesis in erythrocytes

scientific article published on 14 January 2013

Molecular basis of vascular anomalies

scientific article published on October 1998

Molecular genetics of vascular malformations

scientific article

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia

scientific journal article

Multiple Cutaneous and Mucosal Venous Malformations

scientific article published on 17 May 2018

Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation

scientific article published on 18 December 2018

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

scientific article published on 26 January 2012

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")

scientific article

Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema

scientific article published on 21 August 2013

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

scientific article

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

scientific article

Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep

scientific article published in July 2008

New and Emerging Targeted Therapies for Vascular Malformations

scientific article published on 15 June 2020

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

scientific article

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

scientific article published on 10 June 2021

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

scientific article published on 17 March 2015

PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis

scientific article published on 3 March 2017

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

scientific article published in The Lancet

PTGIR, a susceptibility gene for fibromuscular dysplasia?

scientific article published on 04 January 2021

PTHR1 mutations associated with Ollier disease result in receptor loss of function

scientific article published on 17 June 2008

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

article

Pathogenesis of vascular anomalies

scientific article

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations ⬇️

scientific article

Pathogénie et génétique des anomalies vasculaires

Prevalence and Spectrum of SDHx Mutations in Pheochromocytoma and Paraganglioma in Patients from Belgium: An Update

article

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

scientific article

Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data

article

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene

scientific article published on 01 July 2002

Progressive Hyperpigmentation and Generalized Lentiginosis without Associated Systemic Symptoms: a Rare Hereditary Pigmentation Disorder in South-East Germany

article

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

scientific article published on 12 July 2019

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

scientific article published on 10 October 2013

RASA1: variable phenotype with capillary and arteriovenous malformations

scientific article

Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations

article

Rapamycin and treatment of venous malformations

scientific article published on 01 May 2019

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

scientific article

Rapamycin opens the era of targeted molecular therapy of venous malformations

scientific article published on 12 July 2016

Rare presentation of familial paraganglioma without evidence of mutation in the SDH, RET and VHL genes: towards further genetic heterogeneity

scientific article published in January 2009

Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

scientific article published on 12 November 2014

Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

scientific article published on 15 March 2009

Reconstructive surgery in the management of a patient with CLOVES syndrome

scientific article published on 16 July 2013

Refinement of 1p36 alterations not involving PRDM16 in myeloid and lymphoid malignancies

scientific article

Routine use of gene panel testing in hereditary breast cancer should be performed with caution.

scientific article published on 29 October 2016

SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

scientific article published on 27 February 2015

STK39 and WNK1 Are Potential Hypertension Susceptibility Genes in the BELHYPGEN Cohort

scientific article published on April 2016

Severe congenital lymphoedema not caused by mutations in known lymphoedema genes

article

Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study

Somatic Activating PIK3CA Mutations Cause Venous Malformation

scientific article

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

scientific article

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

scientific article published on 14 December 2008

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations

scientific article published on 31 January 2013

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

scientific article published in December 2010

Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

scientific article

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

scientific article (publication date: July 2009)

Structural analyses of the polymorphic area in type II collagen gene

scientific article published on July 1989

Structure of the TSC2 GAP Domain: Mechanistic Insight into Catalysis and Pathogenic Mutations

scientific article published on 04 June 2020

Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma

scientific article published on 19 October 2008

Síndrome malformaciones capilares-malformaciones arteriovenosas: presentación de 2 casos, claves diagnósticas y manejo

article

TMEM165 deficiency causes a congenital disorder of glycosylation

scientific article

Tandem inversion duplication within F8 Intron 1 associated with mild haemophilia A.

scientific article published on 11 May 2015

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

scientific article

The peculiar 11q-gain/loss aberration reported in a subset of MYC-negative high-grade B-cell lymphomas can also occur in a MYC-rearranged lymphoma

scientific article published on 15 December 2015

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

scientific article

Theranostic Advances in Vascular Malformations

scientific article published on 01 April 2020

Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma

scientific article

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families

scientific article published on 15 April 2020

Tumour necrosis and microvascular proliferation are associated with 9p deletion and CDKN2A alterations in 1p/19q-deleted oligodendrogliomas.

scientific article

Type II collagen mutations in rare and common cartilage diseases

scientific article published on April 1994

Unmasking familial CPX by WES and identification of novel clinical signs

scientific article published on 21 November 2018

Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations

scientific article published on 26 March 2013

Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies

scientific article published on 11 September 2017

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies

scientific article

Vascular Malformations

article

Vascular Pathologies: Angiogenomics: towards a genetic nosology and understanding of vascular anomalies

scholarly article by Miikka Vikkula published 16 May 2007 in European Journal of Human Genetics

Vascular anomalies: from genetics toward models for therapeutic trials

scientific article

Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

scientific article

Vascular malformations: localized defects in vascular morphogenesis

scientific article

Venous Malformations of the Head and Neck

scientific article published in February 2018

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.

scientific article published on 30 April 2013

Venous malformation: update on aetiopathogenesis, diagnosis and management

scientific article

Venous malformations: clinical characteristics and differential diagnosis

scientific article published in August 2006

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

scientific article published on 2 March 2018

Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.

scientific article

α-cardiac actin mutations produce atrial septal defects

October 2007 scholarly article in Human Molecular Genetics

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