Lista de obras -

A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases

artículo científico publicado en 2004

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

artículo científico publicado en 2009

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

artículo científico publicado en 2010

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).

artículo científico publicado en 2005

C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis ⬇️

scientific article published on 18 May 2020

Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes

artículo científico publicado en 2006

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

artículo científico publicado en 2011

Childhood overgrowth in patients with common NF1 microdeletions

artículo científico publicado en 2005

Clinical characterization of children and adolescents with NF1 microdeletions

artículo científico publicado en 2020

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

artículo científico publicado en 2018

Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes

artículo científico publicado en 2011

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse ⬇️

artículo científico publicado el 1 de junio de 2003

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome

artículo científico publicado en 2006

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

artículo científico publicado en 2006

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

artículo científico publicado en 2017

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions

article

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

artículo científico publicado en 2011

Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes

scientific article published on 28 May 2009

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

artículo científico publicado en 2011

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports

artículo científico publicado en 2011

Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

artículo científico publicado en 2015

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

artículo científico publicado en 2011

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions

artículo científico publicado en 2012

Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

artículo científico publicado en 2009

Emerging genotype-phenotype relationships in patients with large NF1 deletions

scientific article published on 17 February 2017

Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages

artículo científico publicado en 2009

Evolutionary History and Genome Organization of DUF1220 Protein Domains ⬇️

artículo científico publicado el 1 de septiembre de 2012

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

artículo científico publicado en 2007

Exploring the potential relevance of human-specific genes to complex disease

artículo científico publicado en 2011

Expression pattern of the Rsk2, Rsk4 and Pdk1 genes during murine embryogenesis ⬇️

artículo científico publicado el 1 de mayo de 2003

Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions?

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

scientific article published on 18 March 2005

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

scientific article published on 10 July 2018

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution

artículo científico publicado en 2009

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

artículo científico publicado en 2010

Genomic rearrangements in inherited disease and cancer

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.

artículo científico publicado en 2005

Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions ⬇️

artículo científico publicado el 1 de febrero de 2012

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 ⬇️

artículo científico publicado el 16 de abril de 2003

Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature

artículo científico publicado en 2005

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

artículo científico publicado en 2010

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

artículo científico publicado en 2008

Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication

artículo científico publicado en 2002

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

artículo científico publicado en 2005

Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9.

artículo científico publicado en 2005

Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17

artículo científico publicado en 2002

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

artículo científico publicado en 2003

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

artículo científico publicado en 2006

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis

artículo científico publicado en 2007

Molecular mechanisms of chromosomal rearrangement during primate evolution

artículo científico publicado en 2008

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

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

Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis

artículo científico publicado en 2016

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)

artículo científico publicado en 2002

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

artículo científico publicado en 2008

NF1 Microdeletions and Their Underlying Mutational Mechanisms

article

Neurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1

artículo científico publicado en 2015

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

artículo científico publicado en 2016

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions

artículo científico publicado en 2012

Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism

artículo científico publicado en 2020

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

artículo científico publicado en 2011

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

artículo científico publicado en 2014

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

artículo científico publicado en 2018

Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees

artículo científico publicado en 2005

Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion

artículo científico publicado en 2014

Preface

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions

artículo científico publicado en 2018

Reconstruction of a 450-My-old ancestral vertebrate protokaryotype.

artículo científico

Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting).

artículo científico

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

artículo científico publicado en 2014

SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

artículo científico publicado en 2004

Segmental duplication associated with the human-specific inversion of chromosome 18: a further example of the impact of segmental duplications on karyotype and genome evolution in primates

artículo científico publicado en 2004

Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation

scientific article published on 01 December 2005

Structural divergence between the human and chimpanzee genomes

artículo científico publicado en 2006

The chimpanzee-specific pericentric inversions that distinguish humans and chimpanzees have identical breakpoints in Pan troglodytes and Pan paniscus

artículo científico publicado en 2006

The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1

scientific article published on 28 April 2020

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

artículo científico publicado en 2017

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells

artículo científico publicado en 2012

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

artículo científico publicado en 2010

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

artículo científico publicado en 2007

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

Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons

artículo científico publicado en 2007

What a difference copy number variation makes

artículo científico publicado en 2007

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

scientific article published on 03 July 2013

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

article published in 2014

Wide genome comparisons reveal the origins of the human X chromosome

artículo científico publicado en 2004

Lista de obras de

A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region

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

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).

C-Fiber Loss as a Possible Cause of Neuropathic Pain in Schwannomatosis ⬇️

Characterization of the human lineage-specific pericentric inversion that distinguishes human chromosome 1 from the homologous chromosomes of the great apes

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

Childhood overgrowth in patients with common NF1 microdeletions

Clinical characterization of children and adolescents with NF1 microdeletions

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse ⬇️

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome

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

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes

Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports

Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH.

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions

Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

Emerging genotype-phenotype relationships in patients with large NF1 deletions

Enrichment of brain-related genes on the mammalian X chromosome is ancient and predates the divergence of synapsid and sauropsid lineages

Evolutionary History and Genome Organization of DUF1220 Protein Domains ⬇️

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

Exploring the potential relevance of human-specific genes to complex disease

Expression pattern of the Rsk2, Rsk4 and Pdk1 genes during murine embryogenesis ⬇️

Extended runs of homozygosity at 17q11.2: an association with type-2NF1deletions?

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2

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

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

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

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

Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

Genomic rearrangements in inherited disease and cancer

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

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization

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

Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.

Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions ⬇️

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 ⬇️

Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)--case report and review of the literature

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

Molecular characterisation of t(17;22)(q11.2;q11.2) is not consistent with NF1 gene duplication

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome

Molecular characterization of the pericentric inversion of chimpanzee chromosome 11 homologous to human chromosome 9.

Molecular characterization of the pericentric inversion that causes differences between chimpanzee chromosome 19 and human chromosome 17

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis

Molecular mechanisms of chromosomal rearrangement during primate evolution

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

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

Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)

Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3.

NF1 Microdeletions and Their Underlying Mutational Mechanisms

Neurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions

Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical NF1 deletion due to mosaicism

On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas

Polymorphic micro-inversions contribute to the genomic variability of humans and chimpanzees

Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion

Preface

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions

Reconstruction of a 450-My-old ancestral vertebrate protokaryotype.

Reconstruction of the ancestral ferungulate karyotype by electronic chromosome painting (E-painting).

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

SWI/SNF-Komplex-assoziierte Tumordispositions-Syndrome