Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinFibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxaHuman 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 integrinThree arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthoodHomozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genesFOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationMutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticumNo evidence for involvement of SDHD in neuroblastoma pathogenesisComplex splicing pattern generates great diversity in human NF1 transcriptsCombined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA ampliconsarrayCGHbase: an analysis platform for comparative genomic hybridization microarrays.RTPrimerDB: the real-time PCR primer and probe database, major update 2006.Dickkopf-3 is regulated by the MYCN-induced miR-17-92 cluster in neuroblastomaGenetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal OsteochondrodysplasiaHomozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxaA detailed inventory of DNA copy number alterations in four commonly used Hodgkin's lymphoma cell linesEhlers-Danlos syndromes and Marfan syndromePseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entityNovel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 geneLoss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosisThe von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastomaMutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromeMolecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporterCharacterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesisRNA pre-amplification enables large-scale RT-qPCR gene-expression studies on limiting sample amountsLocalization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis typeBATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.Application of laser capture microdissection in genetic analysis of neuroblastoma and neuroblastoma precursor cells.Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genesmethBLAST and methPrimerDB: web-tools for PCR based methylation analysis.CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell linesA novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaDefective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.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.Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome.
P50
Q24295284-13F545BB-2E18-4349-8E31-C158E6085C91Q24306624-A132BC07-A8D3-431E-B5D0-474CCB592CF2Q24309491-7267940A-7AC1-41A0-B6BD-7A6835F78612Q24338930-1C4C8EEA-E9C6-4F1E-87EB-0ED9E34E681EQ24532090-89162F74-1A27-41AA-A0B4-420F4B0CE5F0Q24534395-350B5D66-BE63-4517-9BF7-340A8FE3D20BQ24610524-C71B7283-FAEE-4108-A042-AEFD88E9C45FQ24648254-444DC600-3097-4BB7-8DDC-33418597C7FCQ24791722-9FE774B8-D2FA-4C85-AB17-E816BB1C554BQ24794175-A09A0B80-19CC-418C-8200-64F6063C52AEQ24799947-9473D200-4461-4B92-9D73-99E3BA91CF47Q24815397-BAB98D07-280D-47BF-A706-C32A249F7D2AQ25257212-F6D20749-5E04-43DF-A5D4-28CABEA22D5DQ28117269-08E62204-9AA5-40E3-B050-2B67D5DC307EQ28117395-292FF85F-031E-4F25-A10B-36819961AA5FQ28218665-4417D054-2242-418B-8925-9DA2462A5766Q28235071-66D6645B-6D10-4D29-A030-A26B88CDCD34Q28272021-345F5932-71CE-4CF5-BC9A-0D45955596ADQ28274568-92BF9814-229C-4D52-81F9-C9F96B479ADCQ28282677-5C0F37A1-1FB8-46E2-9BCC-B3072DAE93FCQ28288338-D81D1A61-7A13-40D0-AB80-097407990B55Q28299521-0A75F18E-19E3-4D7A-8D0F-9823665D763BQ28303072-AE725211-36F1-475E-AACB-9F226889E0EBQ28541190-0D200AFC-E07F-4FBA-B75C-0B6F2DC6510CQ28703547-343C8E57-D645-4993-B3B8-4873DC97B233Q30908941-6499F645-BBD7-4F7E-BCB4-B3FCBAC762D7Q31106248-DAC41492-7852-4701-9A07-125552A57003Q31117800-A843F090-BD46-4F95-8307-53F6761E6E10Q31150767-9D2EA8A7-273C-4E65-8328-0B3F78B32B76Q33258311-DEC64406-0139-489E-9B38-2186A76BFB65Q33263147-F456AFD1-1B78-4E88-BE6B-9FD59A81BF7EQ33344256-F6B9325D-1C2B-4A7E-BD62-C32038DA7F06Q33471397-1BC50060-B1DB-44D2-BBD8-FC2C2322CA94Q33525049-BA2BFE18-1DA2-42E1-9DFF-EB63B6E0294FQ33911125-811CBB45-BBB8-4E95-BCD9-D140C0567B09Q33929448-C302B8F7-473C-48AE-939C-546AB6C0868DQ34036662-FD564B8C-24BB-4236-B91F-08C7B9F771E1Q34136829-611B1143-8E87-415D-8846-D0726BBC4A5DQ34138089-A061F181-1D92-4260-BF2D-FDF77957D276Q34189217-066CE8C4-0F41-4D84-A9E7-6E0ED03BDCFC
P50
description
Belgian geneticist
@en
Belgisch medicus
@nl
belga genetikisto
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genetista belga
@es
jeneticiste beljes
@lfn
médecin et universitaire belge
@fr
عالمة وراثة بلجيكية
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name
Anne De Paepe
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Anne De Paepe
@ca
Anne De Paepe
@de
Anne De Paepe
@en
Anne De Paepe
@es
Anne De Paepe
@fr
Anne De Paepe
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Anne De Paepe
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Anne De Paepe
@nl
Anne De Paepe
@sl
type
label
Anne De Paepe
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Anne De Paepe
@ca
Anne De Paepe
@de
Anne De Paepe
@en
Anne De Paepe
@es
Anne De Paepe
@fr
Anne De Paepe
@ga
Anne De Paepe
@it
Anne De Paepe
@nl
Anne De Paepe
@sl
prefLabel
Anne De Paepe
@ast
Anne De Paepe
@ca
Anne De Paepe
@de
Anne De Paepe
@en
Anne De Paepe
@es
Anne De Paepe
@fr
Anne De Paepe
@ga
Anne De Paepe
@it
Anne De Paepe
@nl
Anne De Paepe
@sl
P106
P108
P19
P21
P27
P31
P3159
P569
1955-10-04T00:00:00Z