Selected Publications

Academic Article

Year Title Altmetric
2018 Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer.Cancer Prevention Research.  11:655-664. 2018
2018 Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.Human Genetics.  137:511-520. 2018
2018 Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.American Journal of Human Genetics.  102:69-87. 2018
2018 High-Throughput Tabular Data Processor - Platform independent graphical tool for processing large data sets.PLoS ONE.  13:e0192858. 2018
2018 Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.Clinical Genetics.  93:187-190. 2018
2017 Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.Clinical Genetics.  92:540-543. 2017
2017 Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.Genes, Chromosomes and Cancer.  57:19-27. 2017
2017 Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients.neurogenetics.  18:169-174. 2017
2017 panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.Human Mutation.  38:889-897. 2017
2017 Predicting neurofibromatosis type 1 risk among children with isolated café-au-lait macules.Journal of The American Academy of Dermatology.  76:1077-1083.e3. 2017
2017 Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.Clinical Genetics.  91:507-519. 2017
2017 Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.British Journal of Dermatology.  176:1077-1078. 2017
2017 Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.American Journal of Medical Genetics.  173:647-653. 2017
2016 Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I.Disease Models & Mechanisms.  9:759-767. 2016
2016 Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.Journal of Biological Chemistry.  291:3124-3134. 2016
2016 Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.Human Molecular Genetics.  25:484-496. 2016
2016 Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.Journal of Medical Genetics.  53:123-126. 2016
2015 Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.American Journal of Medical Genetics.  167A:3186-3191. 2015
2015 Cafe-au-lait macules, axillary freckling and a variant of neurofibromatosis type 1 geneNederlands Tijdschrift voor Dermatologie en Venereologie.  25:542-544. 2015
2015 Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.Human Mutation.  36:1088-1099. 2015
2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.Human Mutation.  36:1052-1063. 2015
2015 Hypomagnesemia due to two novel TRPM6 mutations.Journal of Pediatric Endocrinology and Metabolism.  28:1373-1378. 2015
2015 Decoding NF1 Intragenic Copy-Number Variations.American Journal of Human Genetics.  97:238-249. 2015
2015 The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.American Journal of Medical Genetics.  167A:1741-1746. 2015
2015 Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.Human Molecular Genetics.  24:3518-3528. 2015
2015 Sex-discordant monochorionic twins with blood and tissue chimerism.American Journal of Medical Genetics.  167A:872-877. 2015
2015 Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer.PLoS ONE.  10:e0129216. 2015
2014 Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.Human Mutation.  35:1469-1475. 2014
2014 Update from the 2013 International Neurofibromatosis Conference.American Journal of Medical Genetics.  164A:2969-2978. 2014
2014 Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene.Human Mutation.  35:891-898. 2014
2014 SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Genome Biology.  15:R80. 2014
2014 Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.Genetics in Medicine.  16:448-459. 2014
2014 Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.Human Mutation.  35:215-226. 2014
2014 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.Nature Genetics.  46:182-187. 2014
2013 Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.American Journal of Medical Genetics.  161A:2105-2107. 2013
2013 Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.Pediatric Neurology.  48:447-453. 2013
2013 Elucidating distinct roles for NF1 in melanomagenesis.Cancer Discovery.  3:338-349. 2013
2013 Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.American Journal of Medical Genetics.  161A:405-416. 2013
2013 Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation.Clinical Genetics.  83:191-194. 2013
2012 Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.Human Mutation.  33:1599-1609. 2012
2012 Review and update of SPRED1 mutations causing Legius syndrome.Human Mutation.  33:1538-1546. 2012
2012 Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.Genes, Chromosomes and Cancer.  51:819-831. 2012
2012 Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.European Journal of Human Genetics.  20:618-625. 2012
2012 Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?Clinical Genetics.  81:595-597. 2012
2012 Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.American Journal of Medical Genetics.  158A:1195-1199. 2012
2012 Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant parties.Human Reproduction.  27:1223-1226. 2012
2012 Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.Acta Neuropathologica.  123:369-380. 2012
2012 Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.Human Mutation.  33:372-383. 2012
2012 Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas.PLoS ONE.  7:e30020. 2012
2011 The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.PLoS Genetics.  7:e1002371. 2011
2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.American Journal of Medical Genetics.  155A:1352-1359. 2011
2011 Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).Human Mutation.  32:213-219. 2011
2011 The development of cutaneous neurofibromas.American Journal of Pathology.  178:500-505. 2011
2010 Bax expression is a candidate prognostic and predictive marker of colorectal cancer.Journal of Gastrointestinal Oncology.  1:76-89. 2010
2010 Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.Journal of The American Academy of Dermatology.  63:440-447. 2010
2010 Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.Genetic Testing.  14:505-510. 2010
2010 NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome.Cell.  142:218-229. 2010
2010 Error in a study of the clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.Journal of the American Medical Association.  303:2476-2477. 2010
2010 Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.Human Mutation.  31:552-560. 2010
2010 Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient.Genetic Counseling.  21:307-316. 2010
2010 Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis type 2.Journal of Neurosurgery.  112:81-87. 2010
2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.Journal of the American Medical Association.  302:2111-2118. 2009
2009 Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour.European Journal of Medical Genetics.  52:409-414. 2009
2009 Correction: Glomus tumors in neurofibromatosis type 1: Genetic, functional, and clinical evidence of a novel association (Cancer Research (2009) 69, (7393-7401))Cancer Research.  69:8216. 2009
2009 Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.Cancer Research.  69:7393-7401. 2009
2009 Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis.Cancer Cell.  16:44-54. 2009
2009 Planning the human variome project: the Spain report.Human Mutation.  30:496-510. 2009
2009 Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression.BONE.  44:243-250. 2009
2008 NF1 mutational spectrumMonographs in Human Genetics.  16:63-77. 2008
2008 Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.American Journal of Medical Genetics.  146A:2937-2943. 2008
2008 Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.Ophthalmic Genetics.  29:133-138. 2008
2008 Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes.Journal of Investigative Dermatology.  128:1050-1053. 2008
2008 RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.Human Mutation.  29:299-305. 2008
2008 Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma.Frontiers in Bioscience.  13:1050-1061. 2008
2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.Nature Genetics.  39:1120-1126. 2007
2007 Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?Chest.  132:798-808. 2007
2007 Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.American Journal of Human Genetics.  81:243-251. 2007
2007 Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.Human Mutation.  28:599-612. 2007
2007 An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.American Journal of Human Genetics.  80:140-151. 2007
2007 Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1.Journal of Medical Genetics.  44:e61. 2007
2006 Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.Nature Genetics.  38:1419-1423. 2006
2006 Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations.Analytical Biochemistry.  359:144-146. 2006
2006 Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.Human Mutation.  27:1030-1040. 2006
2006 Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.Genes, Chromosomes and Cancer.  45:893-904. 2006
2006 Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).American Journal of Medical Genetics.  140:1647-1654. 2006
2006 Double inactivation of NF1 in tibial pseudarthrosis.American Journal of Human Genetics.  79:143-148. 2006
2006 Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?Archives of Dermatological Research.  297:439-449. 2006
2006 Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.Human Molecular Genetics.  15:1015-1023. 2006
2006 Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes.Journal of Investigative Dermatology.  126:653-659. 2006
2006 Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.Genes, Chromosomes and Cancer.  45:265-276. 2006
2006 Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt.Biochemical and Biophysical Research Communications.  340:1200-1208. 2006
2006 Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.Journal of Medical Genetics.  43:28-38. 2006
2005 Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.American Journal of Human Genetics.  77:205-218. 2005
2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.American Journal of Medical Genetics.  136:242-245. 2005
2005 Recent molecular insights in hereditary breast and ovarian cancer in BelgiumTijdschrift voor Geneeskunde.  61:1053-1060. 2005
2005 Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.Journal of Medical Genetics.  42:e25. 2005
2005 An interstitial deletion of chromosome 7 at band q21: a case report and review.American Journal of Medical Genetics.  134A:12-23. 2005
2005 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.Journal of Medical Genetics.  42:336-349. 2005
2005 Pigment cell-related manifestations in neurofibromatosis type 1: an overview.Pigment Cell Research.  18:13-24. 2005
2005 Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.European Journal of Human Genetics.  13:52-58. 2005
2004 Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.Human Mutation.  24:491-501. 2004
2004 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).Investigative Ophthalmology & Visual Science.  45:3683-3689. 2004
2004 The human FOXL2 mutation database.Human Mutation.  24:189-193. 2004
2004 BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.British Journal of Cancer.  90:1244-1251. 2004
2004 Neurofibromin is actively transported to the nucleus.FEBS Letters.  560:98-102. 2004
2004 A New Type of Autosomal Recessive Spondyloepiphyseal Dysplasia TardaAmerican Journal of Medical Genetics.  125 A:49-56. 2004
2004 A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.American Journal of Medical Genetics.  125A:49-56. 2004
2004 Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.Human Genetics.  114:284-290. 2004
2004 Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1.Dermatology.  209:223-227. 2004
2003 Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.Genes, Chromosomes and Cancer.  37:314-320. 2003
2003 Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of the NF1 gene at 17q11.2. A reply.Human Genetics.  113:188-190. 2003
2003 Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors.Cancer Genetics and Cytogenetics.  143:120-124. 2003
2003 FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.American Journal of Human Genetics.  72:478-487. 2003
2003 Independent NF1 mutations in two large families with spinal neurofibromatosis.Journal of Medical Genetics.  40:122-126. 2003
2002 Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition.British Journal of Cancer.  87:1379-1385. 2002
2002 Evolution and expression of FOXL2.Journal of Medical Genetics.  39:916-921. 2002
2002 FOXL2 mutation screening in a large panel of POF patients and XX males.Journal of Medical Genetics.  39:e43. 2002
2002 Quantification of NF1 transcripts reveals novel highly expressed splice variants.FEBS Letters.  522:71-76. 2002
2002 Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.BJU International.  90:76-83. 2002
2002 Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene.Oncogene.  21:4171-4175. 2002
2002 Complex splicing pattern generates great diversity in human NF1 transcripts.BMC Genomics.  3:13. 2002
2002 A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.European Journal of Human Genetics.  10:334-338. 2002
2002 Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.American Journal of Medical Genetics.  108:315-318. 2002
2002 Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.Cancer Research.  62:1503-1509. 2002
2002 Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)Prenatal Diagnosis.  22:22-28. 2002
2002 Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).Prenatal Diagnosis.  22:22-28. 2002
2001 Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C.European Journal of Gastroenterology and Hepatology.  13:1077-1081. 2001
2001 Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.Human Molecular Genetics.  10:1591-1600. 2001
2001 Quantification of splice variants using real-time PCR.Nucleic Acids Research.  29:E68-E68. 2001
2001 Carrier screening for cystic fibrosis in a prenatal setting.Genetic Testing.  5:117-125. 2001
2001 Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis.DNA (Mary Ann Liebert, Inc.).  20:41-52. 2001
2001 Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.Human Genetics.  108:51-54. 2001
2000 A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families.¿¿¿¿asopis L¿¿¿¿ka¿¿¿¿¿¿¿¿ ¿¿¿¿esk¿¿¿¿ch.  139:635-637. 2000
2000 Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.Genomics.  68:296-304. 2000
2000 Occurrence of scleroderma in monozygotic twins.Journal of Rheumatology.  27:2267-2269. 2000
2000 Prevalence of the Cys282Tyr and His63Asp mutation in Flemish patients with hereditary hemochromatosis.Acta Gastroenterologica Belgica.  63:250-253. 2000
2000 The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.American Journal of Human Genetics.  67:207-212. 2000
2000 Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defectsHuman Mutation.  15:541-555. 2000
2000 New insights in the molecular causes of familial breast and ovarian cancerTijdschrift voor Geneeskunde.  56:473-483. 2000
2000 arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.Journal of Investigative Dermatology.  114:731-733. 2000
2000 Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.Human Mutation.  15:541-555. 2000
1999 Genetic counselling and testing for hereditary breast and ovarian cancer: the gent(le) approach.Disease Markers.  15:191-195. 1999
1999 Mutation analysis of the BRCA1 and BRCA2 genes in the Belgian patient population and identification of a Belgian founder mutation BRCA1 IVS5 + 3A > G.Disease Markers.  15:69-73. 1999
1999 Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.Genetics in Medicine.  1:248-253. 1999
1999 Hereditary hemochromatosis: From cells and the iron age to genetic diagnosis [1]Tijdschrift voor Geneeskunde.  55:770. 1999
1999 Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.Genomics.  57:70-78. 1999
1999 Hereditary hemochromatosis: From cells and the iron age to genetic diagnosisTijdschrift voor Geneeskunde.  55:143-147. 1999
1999 Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online.Human Mutation.  13:256. 1999
1999 Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer.Fertility and Sterility.  71:163-166. 1999
1998 Human myosin V gene produces different transcripts in a cell type-specific manner.Biochemical and Biophysical Research Communications.  252:329-333. 1998
1998 Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?Pediatric Radiology.  28:790-793. 1998
1998 Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion.Human Genetics.  103:497-505. 1998
1998 Molecular analysis of 1p36 breakpoints in two Merkel cell carcinomas.Genes, Chromosomes and Cancer.  23:67-71. 1998
1998 Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.American Journal of Medical Genetics.  77:188-197. 1998
1998 Application of fluorescence in situ hybridization to the identification of different marker chromosomes.Annales de Genetique.  41:5-10. 1998
1998 Assignment of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25-->q26.1 by in situ hybridization.Cytogenetics and Cell Genetics.  82:228-229. 1998
1998 Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization.Cytogenetics and Cell Genetics.  82:226-227. 1998
1998 Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization.Cytogenetics and Cell Genetics.  83:240-241. 1998
1998 Genetics in ophthalmology.Bulletin- Societe Belge D'optalmologie.  269:1-244. 1998
1997 Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.Human Genetics.  101:75-80. 1997
1997 Analysis of 22 cystic fibrosis mutations in 62 patients from the flanders, Belgium, reveals a high prevalence of nordic mutation 394delTTHuman Mutation.  10:236-238. 1997
1997 Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndromeAmerican Journal of Medical Genetics.  71:479-485. 1997
1997 Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.American Journal of Medical Genetics.  71:479-485. 1997
1997 Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method.Haemostasis.  27:228-236. 1997
1997 Activated protein C resistance: Case reports and review of the literatureTijdschrift voor Geneeskunde.  53:269-273. 1997
1997 Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.Human Mutation.  10:236-238. 1997
1996 Report of the sixth international workshop on human chromosome 3 mapping 1995Cytogenetics and Cell Genetics.  72:255270. 1996
1996 Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.American Journal of Nephrology.  16:352-357. 1996
1996 Refined genetic and physical mapping of BPES type II.European Journal of Human Genetics.  4:34-38. 1996
1996 Report of the sixth international workshop on human chromosome 3 mapping 1995.Cytogenetics and Cell Genetics.  72:255-270. 1996
1995 Anin vitro model for chick embryonic notochords.Journal of tissue culture methods : Tissue Culture Association manual of cell, tissue, and organ culture procedures.  18:227-233. 1995
1993 Lack of independence between five DNA polymorphisms in the NF1 gene.Human Molecular Genetics.  2:485. 1993
1991 Spontaneous acquisition of tumorigenicity and invasiveness by mouse lens explant cells during culture in vitro.In vitro cellular & developmental biology : journal of the Tissue Culture Association.  27A:369-380. 1991
1991 Spontaneous acquisition of tumorigenicity and invasiveness by mouse lens explant cells during culture in vitroIn vitro cellular & developmental biology : journal of the Tissue Culture Association.  27:369-380. 1991
1987 Pathology of tumours produced in syngeneic Fischer rats by fibroblast-like cells before and after transfection with oncogenes.Pathology - Research and Practice.  182:48-57. 1987
1987 Qualitative and quantitative analysis of tumour invasion in vivo and in vitro.Journal of cell science. Supplement.  8:141-163. 1987
1986 Invasiveness and metastatic capability of rat fibroblast-like cells before and after transfection with immortalizing and transforming genes.Cancer Research.  46:4787-4795. 1986


Year Title Altmetric
2012 Mutation analysis of the NF1 gene by cDNA-based sequencing of the coding region.  89-108. 2012
2012 Legius syndrome: Diagnosis and pathology.  487-496. 2012
2012 NF1 germline and somatic mosaicism.  151-172. 2012

Education And Training

  • Doctor of Philosophy in Biological and Biomedical Sciences, Ghent University
  • Full Name

  • Ludwine Messiaen
  • Blazerid

  • lmessiae