Publications in OpenAlex of which a co-author is affiliated to this organization
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| Title | DOI |
|---|---|
| https://doi.org/10.1038/ng585 | Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13 |
| https://doi.org/10.1016/0092-8674(89)90873-8 | Assembly and release of HIV-1 precursor Pr55gag virus-like particles from recombinant baculovirus-infected insect cells |
| https://doi.org/10.1038/306551a0 | Cholera toxin genes: nucleotide sequence, deletion analysis and vaccine development |
| https://doi.org/10.1056/nejmoa070812 | Treatment of Patients with the Hypereosinophilic Syndrome with Mepolizumab |
| https://doi.org/10.1093/brain/awx054 | Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders |
| https://doi.org/10.1038/nature01461 | Apolipoprotein L-I is the trypanosome lytic factor of human serum |
| https://doi.org/10.1038/ng.3304 | Factors influencing success of clinical genome sequencing across a broad spectrum of disorders |
| https://doi.org/10.1038/5102 | Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome |
| https://doi.org/10.1038/ng1313 | Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome |
| https://doi.org/10.1016/j.ajhg.2011.11.021 | Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome |
| https://doi.org/10.1038/35051094 | The lipid phosphatase SHIP2 controls insulin sensitivity |
| https://doi.org/10.1093/hmg/ddh265 | Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy |
| https://doi.org/10.1038/ki.2015.28 | Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report |
| https://doi.org/10.1038/ng703 | Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 |
| https://doi.org/10.3324/haematol.2011.056176 | Report from the European Myeloma Network on interphase FISH in multiple myeloma and related disorders |
| https://doi.org/10.1016/s0143-4004(05)80193-6 | Histological study of the materno-embryonic interface in spontaneous abortion |
| https://doi.org/10.1038/ng.2421 | Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm |
| https://doi.org/10.1093/cid/ciw241 | NocardiaInfection in Solid Organ Transplant Recipients: A Multicenter European Case-control Study |
| https://doi.org/10.1136/jmg.39.10.722 | Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy |
| https://doi.org/10.1136/bmj.h5949 | Long term trends in prevalence of neural tube defects in Europe: population based study |
| https://doi.org/10.1086/346118 | FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation |
| https://doi.org/10.1136/jmg.2005.033522 | Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment |
| https://doi.org/10.1681/asn.2010090907 | Spectrum of Mutations in Gitelman Syndrome |
| https://doi.org/10.1016/j.juro.2012.08.219 | Clinical Utility of an Epigenetic Assay to Detect Occult Prostate Cancer in Histopathologically Negative Biopsies: Results of the MATLOC Study |
| https://doi.org/10.1158/0008-5472.can-04-1978 | Microarray-based Detection of Multidrug Resistance in Human Tumor Cells by Expression Profiling of ATP-binding Cassette Transporter Genes |
| https://doi.org/10.1016/j.ejmg.2009.02.006 | Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome |
| https://doi.org/10.1136/jmg.2005.031781 | Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene |
| https://doi.org/10.1136/jmg.2008.058701 | Clinical and molecular delineation of the 17q21.31 microdeletion syndrome |
| https://doi.org/10.1086/301935 | Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis |
| https://doi.org/10.1038/81563 | Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease |
| https://doi.org/10.1136/archdischild-2016-311845 | Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data |
| https://doi.org/10.1038/ng.2253 | Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan |
| https://doi.org/10.1016/j.ajhg.2017.12.001 | Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 |
| https://doi.org/10.1378/chest.111.3.665 | Effect of Bi-Level Positive Airway Pressure (BiPAP) Nasal Ventilation on the Postoperative Pulmonary Restrictive Syndrome in Obese Patients Undergoing Gastroplasty |
| https://doi.org/10.1086/302831 | Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome |
| https://doi.org/10.1002/humu.22832 | High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation |
| https://doi.org/10.1046/j.1365-2141.2000.02097.x | Clonal Th2 lymphocytes in patients with the idiopathic hypereosinophilic syndrome |
| https://doi.org/10.1046/j.1365-2958.2001.02492.x | The ratio between CcdA and CcdB modulates the transcriptional repression of the ccd poison–antidote system |
| https://doi.org/10.1002/ana.10755 | Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) |
| https://doi.org/10.1016/j.ajhg.2012.09.016 | Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease |
| https://doi.org/10.1681/asn.2013080912 | Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing |
| https://doi.org/10.1007/s00439-016-1655-9 | Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins |
| https://doi.org/10.1093/bioinformatics/btg193 | A hidden Markov model for progressive multiple alignment |
| https://doi.org/10.1002/humu.23407 | A mutation update on the LDS-associated genesTGFB2/3andSMAD2/3 |
| https://doi.org/10.1038/sj.emboj.7600094 | A differential role for actin during the life cycle of Trypanosoma brucei |
| https://doi.org/10.1371/journal.pone.0194986 | Trends in congenital anomalies in Europe from 1980 to 2012 |
| https://doi.org/10.1093/ndt/gfab218 | Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice |
| https://doi.org/10.1136/jmg.2004.027672 | Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study |
| https://doi.org/10.1038/ng.1016 | Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome |
| https://doi.org/10.1136/jitc-2019-000329 | TriMix and tumor antigen mRNA electroporated dendritic cell vaccination plus ipilimumab: link between T-cell activation and clinical responses in advanced melanoma |
| https://doi.org/10.1203/01.pdr.0000182593.95441.64 | TBX5 Genetic Testing Validates Strict Clinical Criteria for Holt-Oram Syndrome |
| https://doi.org/10.1161/01.cir.0000028811.03056.bf | Protective Function of Transcription Factor TR3 Orphan Receptor in Atherogenesis |
| https://doi.org/10.1097/qad.0b013e32835535f5 | Histone methyltransferase inhibitors induce HIV-1 recovery in resting CD4+ T cells from HIV-1-infected HAART-treated patients |
| https://doi.org/10.1007/bf00558247 | The pharmacokinetics of oxybutynin in man |
| https://doi.org/10.1111/cge.12363 | Novel |
| https://doi.org/10.1172/jci119158 | Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. |
| https://doi.org/10.1016/j.kint.2020.04.038 | Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 |
| https://doi.org/10.1051/0004-6361/201015829 | MESS (Mass-loss of Evolved StarS), aHerschelkey program |
| https://doi.org/10.1093/bioinformatics/btu436 | Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data |
| https://doi.org/10.1038/s41436-018-0330-z | The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome |
| https://doi.org/10.2215/cjn.04230321 | Guidelines for Genetic Testing and Management of Alport Syndrome |
| https://doi.org/10.1002/humu.23929 | Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 |
| https://doi.org/10.1007/s00439-002-0765-8 | SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism |
| https://doi.org/10.1002/humu.22296 | Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome |
| https://doi.org/10.1002/bdra.20775 | Paper 6: EUROCAT member registries: Organization and activities |
| https://doi.org/10.1038/s41436-021-01101-4 | Outcome of publicly funded nationwide first-tier noninvasive prenatal screening |
| https://doi.org/10.1002/ajmg.a.37189 | De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability |
| https://doi.org/10.1097/md.0000000000000088 | The Lymphoid Variant of Hypereosinophilic Syndrome |
| https://doi.org/10.1186/1471-2350-12-106 | Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 |
| https://doi.org/10.1038/s41431-021-00858-1 | Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria |
| https://doi.org/10.1002/bdra.22886 | Spectrum of congenital anomalies in pregnancies with pregestational diabetes |
| https://doi.org/10.1093/brain/awx081 | A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies |
| https://doi.org/10.1371/journal.pone.0161802 | X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations |
| https://doi.org/10.1016/j.kint.2017.10.016 | Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies |
| https://doi.org/10.1038/sj.ejhg.5200575 | Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test? |
| https://doi.org/10.1038/s41431-017-0038-6 | HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients |
| https://doi.org/10.1002/bdra.23240 | Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population‐based registry study |
| https://doi.org/10.1111/j.1365-3164.2009.00793.x | Canine cutaneous epitheliotropic T-cell lymphoma: a review of 30 cases |
| https://doi.org/10.1002/humu.22804 | Mutation Update of theCLCN5Gene Responsible for Dent Disease 1 |
| https://doi.org/10.1136/jmg.2004.021626 | Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males |
| https://doi.org/10.1038/ejhg.2012.127 | 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements |
| https://doi.org/10.1093/brain/awt207 | Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay |
| https://doi.org/10.1016/j.ajhg.2015.10.014 | Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type |
| https://doi.org/10.1038/ejhg.2014.174 | Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe |
| https://doi.org/10.1002/pd.1149 | Prenatal diagnosis of trisomy 6 mosaicism |
| https://doi.org/10.1186/1750-1172-8-63 | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
| https://doi.org/10.1136/bmj.i4721 | Prevalence of microcephaly in Europe: population based study |
| https://doi.org/10.1387/ijdb.082619ea | Unaltered imprinting establishment of key imprinted genes in mouse oocytes after in vitro follicle culture under variable follicle-stimulating hormone exposure |
| https://doi.org/10.1007/s00424-007-0304-5 | Phosphoinositide phosphatases in a network of signalling reactions |
| https://doi.org/10.1136/jmedgenet-2017-104579 | FOXP1-related intellectual disability syndrome: a recognisable entity |
| https://doi.org/10.1093/ibd/izab032 | Oncostatin M Is a Biomarker of Diagnosis, Worse Disease Prognosis, and Therapeutic Nonresponse in Inflammatory Bowel Disease |
| https://doi.org/10.1016/j.celrep.2020.02.064 | APOL1 C-Terminal Variants May Trigger Kidney Disease through Interference with APOL3 Control of Actomyosin |
| https://doi.org/10.1093/brain/awx297 | Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5 |
| https://doi.org/10.1002/jbm.a.36552 | Fabrication of Nanofibrous PVA/Alginate‐Sulfate Substrates for Growth Factor Delivery |
| https://doi.org/10.4049/jimmunol.1101493 | Sirtuin 1 Promotes Th2 Responses and Airway Allergy by Repressing Peroxisome Proliferator-Activated Receptor-γ Activity in Dendritic Cells |
| https://doi.org/10.1371/journal.pgen.1006683 | Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies |
| https://doi.org/10.1038/s41467-017-00689-z | Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease |
| https://doi.org/10.1111/epi.16957 | Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures |
| https://doi.org/10.1038/s41436-021-01119-8 | Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 |
| https://doi.org/10.1002/ajmg.a.61067 | Congenital clubfoot in Europe: A population‐based study |