List of works - Ludwine Messiaen

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

scientific article published on 01 May 2002

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

scientific article published on 03 March 2020

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

scientific article published on 01 March 2002

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

scientific article published on 11 March 2017

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

scientific article published in April 2005

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

scientific article published on 2 December 2013

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

scientific article

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

scientific article

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

scientific article published on 09 December 2011

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

scientific article published on 01 September 2019

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

scientific article published on 12 June 2015

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

scientific article

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

scientific article

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

scientific article published on 26 October 2019

Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.

scientific article

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

scientific article published in August 2006

Complex splicing pattern generates great diversity in human NF1 transcripts

scientific article

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

scientific article published in October 2006

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

scientific article published on 14 August 2015

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

scientific article published on 12 November 2008

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

scientific article published on 19 November 2006

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

scientific article published on 10 November 2018

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

scientific article published on 10 August 2020

Decoding NF1 Intragenic Copy-Number Variations.

scientific article published on 16 July 2015

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

scientific article published on July 2003

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

scientific article published in December 2004

Elucidating distinct roles for NF1 in melanomagenesis

scientific article

Error in a study of the clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

scientific article published on 01 June 2010

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

scientific article published in June 2003

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

scientific article published on 10 July 2018

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

scientific article

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

scientific article published in January 2005

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

scientific article published on 27 November 2015

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

scientific article published on 25 March 2019

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

scientific article published in May 2010

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1 ⬇️

scientific article published on November 6, 2003

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

scientific article published on 02 October 2018

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

scientific article published on 13 August 2018

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

scientific article

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

scientific article published on 8 September 2009

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

scientific article published on 14 July 2015

Hypomagnesemia due to two novel TRPM6 mutations

article

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

scientific article published on August 2010

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

scientific article published on 5 May 2011

Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions

scientific article published in December 2014

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

scientific article published on 20 August 2012

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

scientific article

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.

scientific article published on 3 December 2015

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 ⬇️

scientific article published on April 16, 2003

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

scientific article published on 14 November 2013

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

scientific article published in April 2002

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

scientific article

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients

scientific article

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

article by Ludwine Messiaen et al published 28 January 2011 in Human Mutation

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1.

scientific article published in January 2004

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

scientific article

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

scientific article

Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.

scientific article published on 16 November 2011

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

scientific article

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

article

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

scientific journal article

Neurofibromin is actively transported to the nucleus

scientific article published in February 2004

Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene

scientific article published on 21 May 2014

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines

scientific article

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

scientific article

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

scientific article

Pigment cell-related manifestations in neurofibromatosis type 1: an overview

scientific article

Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas

scientific article

Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis

scientific article

Quantification of NF1 transcripts reveals novel highly expressed splice variants

scientific article published in July 2002

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

scientific article published in January 2010

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

scientific article published on 14 August 2006

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

scientific article

Review and update of SPRED1 mutations causing Legius syndrome

scientific article published on August 2012

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

scientific article

Schwannomatosis

scientific article published in March 2018

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

scientific article

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

scientific article published on 04 October 2007

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

scientific article published on November 17, 2011

The development of cutaneous neurofibromas

scientific article

The human FOXL2 mutation database

scientific article

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

scientific article published on 21 April 2015

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

scientific article published on 26 November 2018

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

scientific article published on 7 February 2013

Update from the 2013 International Neurofibromatosis Conference

scientific article published on 24 September 2014

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

scientific article

List of works by Ludwine Messiaen

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

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

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

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

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

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

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

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

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3NF1deletions

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

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

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

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

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

Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.

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

Complex splicing pattern generates great diversity in human NF1 transcripts

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

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

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

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

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

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

Decoding NF1 Intragenic Copy-Number Variations.

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

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

Elucidating distinct roles for NF1 in melanomagenesis

Error in a study of the clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

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

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

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

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

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

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

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

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1 ⬇️

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

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

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

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

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

Hypomagnesemia due to two novel TRPM6 mutations

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

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

Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions

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

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.

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.

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 ⬇️

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

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

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

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients

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

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1.

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

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

Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.

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

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

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

Neurofibromin is actively transported to the nucleus

Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines

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

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

Pigment cell-related manifestations in neurofibromatosis type 1: an overview

Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas

Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis

Quantification of NF1 transcripts reveals novel highly expressed splice variants

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

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

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

Review and update of SPRED1 mutations causing Legius syndrome

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

Schwannomatosis

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

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

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