L. Messiaen

发表

Complex splicing pattern generates great diversity in human NF1 transcripts

I. Vandenbroucke, T. Callens, A. De Paepe, 2002, BMC Genomics.

Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression.

J. Koivunen, L. Messiaen, Hannu-Ville Leskelä, 2009, Bone.

J. Lambert, J. Naeyaert, L. Messiaen, 2005, Pigment cell research.

Neurofibromin is actively transported to the nucleus

P. van Oostveldt, I. Vandenbroucke, A. De Paepe, 2004, FEBS letters.

Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing

J. Vance, G. Mortier, T. Callens, 1999, Genetics in Medicine.

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

G Mortier, T Callens, G. Mortier, 2000, Human mutation.

Double inactivation of NF1 in tibial pseudarthrosis.

J. Carey, L. Messiaen, D. Viskochil, 2006, American journal of human genetics.

Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes.

W. Westbroek, M. Mommaas, J. Lambert, 2006, The Journal of investigative dermatology.

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice‐site disruption

A. Krainer, T. Callens, L. Messiaen, 2007, Human mutation.

Quantification of NF1 transcripts reveals novel highly expressed splice variants

J. Vandesompele, I. Vandenbroucke, A. De Paepe, 2002, FEBS letters.

Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve sheath tumour.

C. Fauth, J. Hainfellner, H. Kehrer-Sawatzki, 2009, European journal of medical genetics.

New insights in the molecular pathogenesis of neurofibromatosis type 1

L. Messiaen, O. Maertens, Ophélia Maertens, 2006 .

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

G. Page, G. Germino, S. Somlo, 2005, Journal of Medical Genetics.

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1

D. Largaespada, A. Stemmer-Rachamimov, M. Giovannini, 2018, Communications Biology.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Seon-Yong Jeong, L. Messiaen, Hyon J. Kim, 2013, Pediatric neurology.

Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

L. Messiaen, K. Wimmer, 2005, Journal of medical genetics.

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

A. De Paepe, L. Messiaen, K. Sermon, 2002, Prenatal diagnosis.

Planning the Human Variome Project: The Spain report

Toshio Kojima, John M. Hancock, Sue Povey, 2009, Human mutation.

Mosaic type‐1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type‐1 (NF1)

D. Cooper, C. Lázaro, H. Kehrer-Sawatzki, 2011, Human mutation.

panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics

Sepp Hochreiter, Günter Klambauer, Verena Haunschmid, 2017, Human mutation.

NF1 Is a Tumor Suppressor in Neuroblastoma that Determines Retinoic Acid Response and Disease Outcome

Jan Koster, Michael Hölzel, Jing Xie, 2010, Cell.

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1

I. Vandenbroucke, T. Callens, L. Messiaen, 2004, Human Genetics.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

D. Cooper, C. Lázaro, J. Högel, 2014, Genome Biology.

Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation

M. Irving, L. Messiaen, O. Islam, 2013, Clinical Genetics.

arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.

J. Naeyaert, A. De Paepe, L. Messiaen, 2000, The Journal of investigative dermatology.

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

A. Stemmer-Rachamimov, B. Korf, D. Evans, 2013, American journal of medical genetics. Part A.

Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

J. Krieger, B. Gelb, C. Kim, 2005, American journal of medical genetics. Part A.

Concurrent DNA Copy‐Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

A. Piotrowski, A. Bogdan, Rafał Bartoszewski, 2015, Human mutation.

RNA‐based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

J. Hainfellner, A. Attarbaschi, L. Messiaen, 2008, Human mutation.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

NF1 Germline and Somatic Mosaicism

J. Xie, L. Messiaen, Jing Xie, 2012 .

Mutation Analysis of the BRCA1 and BRCA2 Genes in the Belgian Patient Population and Identification of a Belgian Founder Mutation BRCA1 IVS5+3A>G

K. Claes, A. De Paepe, L. Messiaen, 2002, Disease markers.

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions

D. Cooper, H. Kehrer-Sawatzki, L. Messiaen, 2018, Human Genetics.

Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations.

F. Speleman, J. Vandesompele, L. Messiaen, 2006, Analytical biochemistry.

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

F. Speleman, J. Vandesompele, L. Messiaen, 2007, American journal of human genetics.

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

K. Claes, L. Messiaen, A. Paepe, 2004, British Journal of Cancer.

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non‐microdeletion patients

F. Speleman, J. Vermeesch, R. Sciot, 2006, Genes, chromosomes & cancer.

The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach

Alcino J. Silva, B. Korf, C. Lázaro, 2015, American journal of medical genetics. Part A.

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?

R. Pyeritz, J. Ryu, J. Cogan, 2007, Chest.

Predicting neurofibromatosis type 1 risk among children with isolated café‐au‐lait macules

M. Leshno, E. Sprecher, S. Constantini, 2017, Journal of the American Academy of Dermatology.

Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?

J. Lambert, J. Naeyaert, L. Messiaen, 2006, Archives of Dermatological Research.

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

G. Mortier, T. Callens, A. De Paepe, 1997, Human Genetics.

The development of cutaneous neurofibromas.

E. Jokinen, T. Callens, L. Messiaen, 2011, The American journal of pathology.

Association between the Cys282Tyr missense mutation and the haptoglobin phenotype polymorphism in patients with chronic hepatitis C

M. Vos, L. Messiaen, A. Paepe, 2000 .

Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL

M. Baudis, S. Girlando, L. Messiaen, 2012, Genes, chromosomes & cancer.

Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis type 2.

B. Scheithauer, M. Carlson, L. Messiaen, 2010, Journal of neurosurgery.

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

J. Vandesompele, K. Dahan, K. Claes, 2002, Oncogene.

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome

B. Scheithauer, A. Stemmer-Rachamimov, R. Sciot, 2012, European Journal of Human Genetics.

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

A. Ballabio, T. Meitinger, B. Lorenz, 2000, Human Genetics.

From process to progress—2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis

Karlyne M. Reilly, A. Lloyd, D. Evans, 2019, American journal of medical genetics. Part A.

Multiple Myofibromas and an Epidermal Verrucous Nevus in a Child with Neurofibromatosis Type 1

J. Naeyaert, L. Messiaen, S. de Schepper, 2004, Dermatology.

Legius Syndrome: Diagnosis and Pathology

L. Messiaen, E. Legius, H. Brems, 2012 .

Genetic Counselling and Testing for Hereditary Breast and Ovarian Cancer: The Gent(le) Approach

G. Mortier, K. Claes, A. De Paepe, 2002, Disease markers.

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1

L. Messiaen, K. Wimmer, T. Rosenbaum, 2017, Clinical genetics.

Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C

H. Van Vlierberghe, A. De Paepe, L. Messiaen, 2001, European journal of gastroenterology & hepatology.

Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence

A. De Paepe, L. Messiaen, B. Loeys, 2002, BJU international.

Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager

K. Gripp, L. Messiaen, J. Piatt, 2017, Clinical genetics.

Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients

A. Piotrowski, A. Poplawski, T. Callens, 2017, neurogenetics.

Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African‐American brothers

S. Aradhya, L. Messiaen, A. Vargas, 2013, American journal of medical genetics. Part A.

An interstitial deletion of chromosome 7 at band q21: A case report and review

M. Nöthen, F. Speleman, L. Messiaen, 2005, American journal of medical genetics. Part A.

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

L. Messiaen, K. Wimmer, E. Legius, 2018, Journal of Medical Genetics.

Anin vitro model for chick embryonic notochords

E. Ghanem, L. Messiaen, L. Ridder, 2004, Cytotechnology.

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome.

F. Speleman, L. Messiaen, N. Van Roy, 1997, American journal of medical genetics.

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

H. Kehrer-Sawatzki, L. Messiaen, 2003, Human Genetics.

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis

J. Biegel, L. Messiaen, C. Moertel, 2015, American journal of medical genetics. Part A.

Molecular Diagnosis for NF1

L. Messiaen, 2020 .

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

E. Zackai, B. Korf, V. Narayanan, 2009, JAMA.

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

D. Cooper, J. Högel, H. Kehrer-Sawatzki, 2018, Human Genetics.

Identification of Large NF1 Duplications Reciprocal to NAHR‐Mediated Type‐1 NF1 Deletions

D. Cooper, H. Kehrer-Sawatzki, H. Saal, 2014, Human mutation.

Identification of recurrent type‐2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder

D. Cooper, J. Högel, H. Kehrer-Sawatzki, 2012, Human mutation.

Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.

R. Vanholder, A. De Paepe, L. Messiaen, 1996, American journal of nephrology.

Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

A. Leier, B. Korf, L. Popplewell, 2022, Molecular therapy. Nucleic acids.

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*♦

R. Morita, A. Yoshimura, L. Messiaen, 2015, The Journal of Biological Chemistry.

Update from the 2013 international neurofibromatosis conference

Michael Fisher, A. Lloyd, A. Stemmer-Rachamimov, 2014, American journal of medical genetics. Part A.

Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer.

L. Messiaen, K. Sermon, W. Lissens, 1999, Fertility and sterility.

Child Neurology: Spastic paraparesis and dystonia with a novel ADCY5 mutation

G. Cooper, B. Korf, D. Standaert, 2019, Neurology.

Genetic testing and genotype–phenotype correlations

L. Messiaen, E. Baere, 2005 .

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA‐related segmental overgrowth: Co‐occurrence of mosaicism for 2 rare disorders

A. Poplawski, L. Messiaen, D. Babovic‐Vuksanovic, 2018, Clinical genetics.

A cc ep te d A rti cl e Unilateral Vestibular Schwannoma and Meningiomas in a Patient with PIK 3 CA-Related Segmental Overgrowth : Co-occurrence of Mosaicism for Two Rare Disorders

A. Poplawski, L. Messiaen, D. Babovic‐Vuksanovic, 2017 .

Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)

A. Carroll, L. Messiaen, F. Mikhail, 2006, American journal of medical genetics. Part A.

Sex‐discordant monochorionic twins with blood and tissue chimerism

L. Messiaen, F. Mikhail, K. Rojnueangnit, 2015, American journal of medical genetics. Part A.

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.

L. Messiaen, F. Skovby, R. Falk, 2012, Human reproduction.

Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I

B. Korf, D. Gutmann, T. Schoeb, 2016, Disease Models & Mechanisms.

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

Y. Fukushima, A. Palotie, A. De Paepe, 2000, Genomics.

Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2

L. Messiaen, J. Reiss, R. Weleber, 2008, Ophthalmic genetics.

Hypomagnesemia due to two novel TRPM6 mutations

B. Korf, L. Messiaen, D. Crossman, 2015, Journal of pediatric endocrinology & metabolism : JPEM.

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

D. Cooper, H. Kehrer-Sawatzki, K. Claes, 2018, Human Genetics.

Café‐au‐lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome

C. Stevens, L. Messiaen, P. Chiang, 2012, American journal of medical genetics. Part A.

Independent NF1 mutations in two large families with spinal neurofibromatosis

J. Koivunen, I. Vandenbroucke, T. Callens, 2003, Journal of medical genetics.

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

G. Thomas, P. Marynen, A. Yoshimura, 2007, Nature Genetics.

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

G. Mortier, F. Speleman, J. Vandesompele, 2006, Human mutation.

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

R. Sciot, L. Yao, K. Claes, 2009, Cancer research.

Evolution and expression of FOXL2

R. Veitia, L. Messiaen, M. Fellous, 2002, Journal of medical genetics.

Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes.

J. Lambert, J. Naeyaert, T. Callens, 2008, The Journal of investigative dermatology.

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.

E. Haan, D. Baralle, D. Evans, 2007, American journal of human genetics.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

NF1 Mutational Spectrum

L. Messiaen, K. Wimmer, 2008 .

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1

A. Krainer, R. Wieser, I. Vandenbroucke, 2004, Human mutation.

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene

T. Callens, L. Messiaen, K. Wimmer, 2002, European Journal of Human Genetics.

Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.

W. Vogel, L. Messiaen, D. Kaufmann, 2002, Cancer research.

Elucidating distinct roles for NF1 in melanomagenesis.

K. Flaherty, Dennie T. Frederick, J. Wargo, 2013, Cancer discovery.

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

F. Speleman, J. Vermeesch, R. Sciot, 2006, Human molecular genetics.

Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1

M. Heinrich, C. Corless, B. Rubin, 2006, Journal of Medical Genetics.

neurofibromatosis type 1 pathogenesis of gastrointestinal stromal tumours in Mitotic recombination as evidence of alternative

M. Heinrich, C. Corless, B. Rubin, 2007 .

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

K. Claes, Joseph J Shen, T. Callens, 2013, Genetics in Medicine.

Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.

B. Korf, L. Messiaen, K. Boyd, 2010, Journal of the American Academy of Dermatology.

Review and update of SPRED1 mutations causing legius syndrome

E. Pasmant, L. Messiaen, M. Upadhyaya, 2012, Human mutation.

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda

L. Messiaen, B. Leroy, J. Leroy, 2004, American journal of medical genetics. Part A.

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Michael Fisher, A. Stemmer-Rachamimov, B. Korf, 2021, Genetics in Medicine.

Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt.

L. Messiaen, Bhumsoo Kim, M. Boyanapalli, 2006, Biochemical and biophysical research communications.

Quantification of splice variants using real-time PCR

Jo Vandesompele, Ina I. Vandenbroucke, Anne De Paepe, 2001, Nucleic Acids Res..

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2

Ludwine Messiaen, Eva Machackova, Anne De Paepe, 2003, Genes, chromosomes & cancer.

Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer

Karan P. Singh, U. Manne, W. Grizzle, 2015, PloS one.

Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma.

U. Manne, W. Grizzle, T. Callens, 2008, Frontiers in bioscience : a journal and virtual library.

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

T. Callens, L. Messiaen, K. Wimmer, 2011, PLoS genetics.

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type‐3 NF1 deletions

Antje M Zickler, H. Kestler, D. Cooper, 2012, Human mutation.

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

F. Speleman, A. De Paepe, L. Messiaen, 2002, American journal of medical genetics.

Functional PMS2 hybrid alleles containing a pseudogene‐specific missense variant trace back to a single ancient intrachromosomal recombination event

H. Kehrer-Sawatzki, L. Messiaen, K. Wimmer, 2010, Human mutation.

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Bruce R Korf, Piotr Madanecki, David K Crossman, 2013, Nature Genetics.

Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

D. Gutmann, L. Messiaen, C. Anastasaki, 2015, Human molecular genetics.

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1

T. Smolarek, L. Messiaen, D. Viskochil, 2017, American Journal of Medical Genetics. Part A.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

E. Haan, S. Mansour, D. Vidaud, 2021, European Journal of Human Genetics.

Decoding NF1 Intragenic Copy-Number Variations.

A. Piotrowski, K. Claes, T. Callens, 2015, American journal of human genetics.

Invasiveness and metastatic capability of rat fibroblast-like cells before and after transfection with immortalizing and transforming genes.

W. Fiers, M. Mareel, F. van Roy, 1986, Cancer research.

Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR

E. Zackai, M. Meyn, L. Messiaen, 2011, American journal of medical genetics. Part A.

Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis.

R. Beroukhim, C. Brennan, T. Cloughesy, 2009, Cancer cell.

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.

D. Cooper, H. Kehrer-Sawatzki, L. Messiaen, 2016, Human molecular genetics.

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.

Y. Fukushima, F. Speleman, A. De Paepe, 1999, Genomics.

Assignment1 of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization

F. Speleman, A. De Paepe, L. Messiaen, 1999, Cytogenetic and Genome Research.

A high occurrence of BRCA1 and BRCA2 mutations among Czech hereditary breast and breast-ovarian cancer families.

K. Claes, L. Messiaen, E. Macháčková, 2000, Casopis lekaru ceskych.

Germline and Somatic NF1 Alterations Are Linked to Increased HER2 Expression in Breast Cancer

B. Korf, M. Tainsky, L. Messiaen, 2018, Cancer Prevention Research.

Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience

Yunjia Chen, A. Piotrowski, A. Poplawski, 2021, Human mutation.

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1

Yunjia Chen, M. Jackson, J. Burn, 2020, Genetics in Medicine.

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides

Yunjia Chen, T. Callens, L. Messiaen, 2020, Human mutation.

Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer

A. Levin, B. Korf, M. Tainsky, 2018, Genes, chromosomes & cancer.

Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis

L. Messiaen, I. Lara-Corrales, Meng-Chang Hsiao, 2017, The British journal of dermatology.

DECODING NF1 INTRAGENIC COPY-NUMBER CHANGES

B. Korf, A. Piotrowski, L. Messiaen, 2015 .

Palindrome‐Mediated and Replication‐Dependent Pathogenic Structural Rearrangements within the NF1 Gene

A. Piotrowski, K. Claes, T. Callens, 2014, Human mutation.

Spectrum of single‐ and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

H. Kehrer-Sawatzki, K. Claes, T. Callens, 2006, Genes, chromosomes & cancer.

Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH

L. Bolund, D. Vetrie, A. Piotrowski, 2005, Journal of Medical Genetics.

Human myosin V gene produces different transcripts in a cell type-specific manner.

J. Naeyaert, T. Callens, A. De Paepe, 1998, Biochemical and biophysical research communications.

Improved conditions for PTT analysis of the BRCA1, BRCA2, NF1 and APC genes

K. Claes, T. Callens, L. Messiaen, 1998 .

Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors.

F. Speleman, J. Vandesompele, R. Sciot, 2003, Cancer genetics and cytogenetics.

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

D. Baralle, S. Bhattacharya, A. Moore, 2004, Investigative ophthalmology & visual science.

Pathology of tumours produced in syngeneic Fischer rats by fibroblast-like cells before and after transfection with oncogenes.

W. Fiers, M. Mareel, F. van Roy, 1987, Pathology, research and practice.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

K. Devriendt, G. Mortier, E. Jabs, 2001, Human molecular genetics.

Qualitative and Quantitative Analysis of Tumour Invasion In Vivo and In Vitro

M. Mareel, E. Bruyneel, F. van Roy, 1987, Journal of Cell Science.

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion

M. Stephens, P. Marynen, C. Lázaro, 2006, Nature Genetics.

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.

M. Beckmann, T. Sellers, M. Stratton, 2000, American journal of human genetics.

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

G. Mortier, A. De Paepe, L. Messiaen, 1998, Pediatric Radiology.

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

D. Cooper, H. Kehrer-Sawatzki, L. Messiaen, 2014, Human mutation.

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

A. Jauch, F. Speleman, J. Vermeesch, 1998, Human Genetics.

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

Philippe De Wilde, F. Speleman, B. Menten, 2005, European Journal of Human Genetics.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

J. Raes, Y. Peer, Y. van de Peer, 2005, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

J. Martín, L. Messiaen, E. Vamos, 1998, American journal of medical genetics.

Re‐evaluation of missense variant classifications in NF2

L. Messiaen, A. Wallace, N. Roberts, 2022, Human mutation.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2003 .

Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.

L. Messiaen, F. Mikhail, R. Vijzelaar, 2010, Genetic testing and molecular biomarkers.

Spontaneous acquisition of tumorigenicity and invasiveness by mouse lens explant cells during culture in vitro

T. Moens, L. Messiaen, S. Qian, 1991, In Vitro Cellular & Developmental Biology - Animal.

Carrier screening for cystic fibrosis in a prenatal setting.

G. Mortier, A. De Paepe, L. Messiaen, 2001, Genetic testing.

ATYPICAL TERATOID RHABDOID TUMOR (ATRT)

R. Siebert, K. Ligon, C. Roberts, 2012 .

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines

A. Clayton, P. Dyck, Jing Xie, 2015, Journal of Medical Genetics.

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

L. Messiaen, F. Mikhail, M. Descartes, 2008, American journal of medical genetics. Part A.

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

E. Radaelli, F. Impens, R. Nussinov, 2018, Science.

Molecular dissection of isolated disease features in mosaic NF1 patients

F. Speleman, J. Vandesompele, L. Messiaen, 2007 .

FOXL2 mutation screening in a large panel of POF patients and XX males

R. Veitia, L. Messiaen, M. Fellous, 2002, Journal of medical genetics.

Abstract A30: NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome

R. Bernards, J. Xie, Sidong Huang, 2010 .

Neurofibromatosis 2011: a report of the Children’s Tumor Foundation Annual Meeting

A. Lloyd, A. Stemmer-Rachamimov, F. Giancotti, 2011, Acta Neuropathologica.

Bax expression is a candidate prognostic and predictive marker of colorectal cancer.

U. Manne, W. Grizzle, T. Callens, 2010, Journal of gastrointestinal oncology.

Refined Genetic and Physical Mapping of BPES Type II

F. Speleman, L. Messiaen, A. Paepe, 1996, European journal of human genetics : EJHG.

Prognostic Significance and Gene Expression Profiles of p53 Mutations in Microsatellite-Stable Stage III Colorectal Adenocarcinomas

U. Manne, T. Callens, L. Messiaen, 2012, PloS one.

Identification and characterisation of a founder mutation in the Belgian breast/ovarian cancer population

M. Vos, K. Claes, L. Messiaen, 2000 .

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.

L. Messiaen, A. Lo, C. Gross, 2001, DNA and cell biology.

High-Throughput Tabular Data Processor – Platform independent graphical tool for processing large data sets

Piotr Madanecki, Magdalena Bałut, Patrick G Buckley, 2018, PloS one.

The human FOXL2 mutation database

J. Vandesompele, A. De Paepe, L. Messiaen, 2004, Human mutation.

Molecular analysis of 1p36 breakpoints in two Merkel cell carcinomas

F. Speleman, J. Vandesompele, I. Bar-Am, 1998, Genes, Chromosomes and Cancer.

Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II

T. Callens, L. Messiaen, K. Wimmer, 2023, Human Genetics.

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1

D. Largaespada, A. Stemmer-Rachamimov, M. Giovannini, 2018, Communications Biology.

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT

L. Messiaen, A. Paepe, R. Rossau, 1997, Human mutation.

Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition

H. Thierens, A. Vral, L. de Ridder, 2002, British Journal of Cancer.

Assignment1 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

F. Speleman, A. De Paepe, L. Messiaen, 1998, Cytogenetic and Genome Research.

Assignment1 of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25→q26.1 by in situ hybridization

F. Speleman, A. De Paepe, L. Messiaen, 1998, Cytogenetic and Genome Research.

Lack of independence between five DNA polymorphisms in the NF1 gene.

T. Moens, L. Messiaen, J. Leroy, 1993, Human molecular genetics.

Correlations of Malignancy in Cultured Cells

M. Mareel, L. Messiaen, F. Roy, 1988 .

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, David T. Miller, B. Korf, 2018, Genetics in Medicine.

Occurrence of scleroderma in monozygotic twins.

L. Messiaen, I. Peene, F. de Keyser, 2000, The Journal of rheumatology.

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

W. Foulkes, L. Messiaen, D. Stevenson, 2021, Genetics in Medicine.

Prevalence of the Cys282Tyr and His63Asp mutation in Flemish patients with hereditary hemochromatosis.

H. Van Vlierberghe, A. De Paepe, L. Messiaen, 2000, Acta gastro-enterologica Belgica.

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)

L. Messiaen, K. Sermon, B. Loeys, 2002, Prenatal diagnosis.

Coexistence of neurofibromatosis type 1 and mosaic trisomy 8 in the same patient.

L. Messiaen, B. Tuysuz, S. Basaran, 2010, Genetic counseling.

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus suggestions for testing a child without malignancy

L. Messiaen, K. Wimmer, E. Legius, 2020 .