List of works - Anne De Paepe

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

scientific article

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

scientific article

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

scientific article

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

scientific article

Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification

scientific article published on 18 August 2010

RTPrimerDB: the real-time PCR primer and probe database

scientific article published on January 2003

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

scientific article (publication date: September 2002)

The 2017 international classification of the Ehlers-Danlos syndromes

scientific article published on March 2017

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

scientific article

Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma

scientific article

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

scientific article

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

scientific article

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

scientific article

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

scientific article

Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes

scientific article published in January 2006

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

scientific article

Ehlers-Danlos syndromes and Marfan syndrome

scientific article

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

scientific article published on October 2010

Small-molecule MDM2 antagonists as a new therapy concept for neuroblastoma

scientific article published on October 2006

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

scientific article published on 19 September 2011

RTPrimerDB: the real-time PCR primer and probe database, major update 2006.

scientific article

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

scientific article

Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies

scientific article published on 28 August 2003

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

scientific article

Antitumor activity of the selective MDM2 antagonist nutlin-3 against chemoresistant neuroblastoma with wild-type p53.

scientific article

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

scientific article

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

scientific article

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

scientific article

ArrayCGH-based classification of neuroblastoma into genomic subgroups

scientific article published on December 2007

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

scientific article

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

scientific article

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

scientific article

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

scientific article

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

scientific article

The microRNA body map: dissecting microRNA function through integrative genomics

scientific article published on 10 August 2011

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

scientific article published on 24 February 2010

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

scientific article published on 30 September 2013

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article

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

scientific article published on July 2003

Functional analysis of the p53 pathway in neuroblastoma cells using the small-molecule MDM2 antagonist nutlin-3.

scientific article published on April 2011

Combined karyotyping, CGH and M-FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma

scientific article

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

scientific article

FOXL2 mutations and genomic rearrangements in BPES.

scientific article published on February 2009

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

scientific article

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome

scientific article

Molecular genetics in classic Ehlers-Danlos syndrome

scientific article

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

scientific article

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome

scientific article

PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements

scientific article

List of works by Anne De Paepe

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification

RTPrimerDB: the real-time PCR primer and probe database

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

The 2017 international classification of the Ehlers-Danlos syndromes

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma

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

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial

Ehlers-Danlos syndromes and Marfan syndrome

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Small-molecule MDM2 antagonists as a new therapy concept for neuroblastoma

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

RTPrimerDB: the real-time PCR primer and probe database, major update 2006.

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Antitumor activity of the selective MDM2 antagonist nutlin-3 against chemoresistant neuroblastoma with wild-type p53.

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

ArrayCGH-based classification of neuroblastoma into genomic subgroups

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

The microRNA body map: dissecting microRNA function through integrative genomics

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

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

Functional analysis of the p53 pathway in neuroblastoma cells using the small-molecule MDM2 antagonist nutlin-3.

Combined karyotyping, CGH and M-FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

FOXL2 mutations and genomic rearrangements in BPES.

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome

Molecular genetics in classic Ehlers-Danlos syndrome

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome

PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements