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AJMG - PartA / DOI: 10.1002/ajmg.a.61119
29 maart 2019Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta Sheela Nampoothiri, Brecht Guillemyn, Nursel Elcioglu, Sujatha Jagadeesh, Dhanya Yesodharan, Beena Suresh, Serap Turan, Sofie Symoens, Fransisk
Lees meernieuwe policy voor opsporing van de c.665C>T variant in het MTHFR gen voor multifactoriële aandoeningen
22 februari 2019Betreft: nieuwe policy voor opsporing van de c.665C>T (p.A222V) (historisch gekend als C677T) variant in het MTHFR gen voor multifactoriële aandoeninge
Lees meerNieuwe versie aanvraagformulier postnataal genetisch onderzoek
18 februari 2019Er is een nieuwe versie van het aanvraagformulier voor postnataal genetisch onderzoek met testen van het Centrum voor Medische Genetica beschikbaar. Deze nieuwe versie van het aanvraagformulier omvat een uitbreiding van de genetische testen, alsoo
Lees meerBi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
01 februari 2019Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, De Paepe A, Malfait FHum Mol Genet. 2019 Jan 22. doi: 10.1093/hmg/ddz024. [Epub ahead
Lees meerBi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
01 februari 2019Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, De Paepe A, Malfait FHum Mol Genet. 2019 Jan 22. doi: 10.1093/hmg/ddz024. [Epub ahead
Lees meerA homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.
01 februari 2019Hum Mol Genet. 2019 Jan 16. doi: 10.1093/hmg/ddz017. [Epub ahead of print]A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.Guillemyn B, Kayserili H,
Lees meerCirculating microRNA biomarkers for metastatic disease in neuroblastoma patients.
07 december 2018Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients. Zeka F, Decock A, Van Goethem A, Vanderheyden K, Demuynck F, Lammens T, Helsmoortel HH, Vermeulen J, Noguera R, Berbegall AP, Combaret V, Schleiermacher G
Lees meerCirculating microRNA biomarkers for metastatic disease in neuroblastoma patients.
07 december 2018Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients. Zeka F, Decock A, Van Goethem A, Vanderheyden K, Demuynck F, Lammens T, Helsmoortel HH, Vermeulen J, Noguera R, Berbegall AP, Combaret V, Schleiermacher G
Lees meerCirculating microRNA biomarkers for metastatic disease in neuroblastoma patients.
07 december 2018Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients. Zeka F, Decock A, Van Goethem A, Vanderheyden K, Demuynck F, Lammens T, Helsmoortel HH, Vermeulen J, Noguera R, Berbegall AP, Combaret V, Schleiermacher G
Lees meerA neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.
30 november 2018Hum Mol Genet. 2018 Nov 15. doi: 10.1093/hmg/ddy393. [Epub ahead of print] A neuronal enhancer network upstream of MEF2C is compromised in patien
Lees meerCRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments.
26 november 2018ABSTRACTTargeted genome editing by CRISPR/Cas9 is extremely well fitted to generate gene disruptions, although precise sequence replacement by CRISPR/Cas9-mediated homology-directed repair (HDR) suffers from low efficiency, impeding
Lees meerTBX2 is a neuroblastoma core regulatory circuitry component enhancing MYCN/FOXM1 reactivation of DREAM targets
22 november 2018Abstract Chromosome 17q gains are almost invariably present in high-risk neuroblastoma cases. Here, we perform an integrative epigenomics search for dosage-sensitive transcription factors on 17q marked by
Lees meerDe novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
20 september 2018De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationAbstractThe etiological spectrum of ultra-rare developmental disorders remains to be fully defined. Chromatin regulato
Lees meerZebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
10 augustus 2018AbstractThe type I collagenopathies are a group of heterogeneous connective tissue disorders, that are caused by mutations in the genes encoding type I collagen and include specific forms of osteogenesis
Lees meerBiallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
05 juli 2018Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Authors:Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D
Lees meerInternational Symposium on the Ehlers-Danlos syndromes
19 juni 2018When: 26th - 29th of September 2018 Where: The Oude Vismijn, in the historic city center of Ghent Website: https://www.ehlers-danlos.com/2018-eds-ghent/ More Infor
Lees meerPhD fellowship vacancy in pediatric oncology
05 juni 2018PhD fellowship vacancy in pediatric oncology "Therapy response monitoring in pediatric cancer basket trial patients" The position:
Lees meerHetty Helsmoortel wint de Prijs De Maakbare Mens
23 april 2018Op zondag 22 april mag wetenschapscommunicator en kankeronderzoekster Hetty Helsmoortel de Prijs De Maakbare Mens in ontvangst nemen. Zij wordt door De Maakbare Mens gelauwerd voor haar groot engagement om wetenschap helder en boeien
Lees meerNew postal address
18 januari 2018Please note, our postal address has been changed from De Pintelaan 185 - 9000 Gent to C. Heymanslaan 10 - 9000 Gent
Lees meerNieuwe richtlijnen BelMolGen
12 oktober 2017Recent gaf de BelMolGen werkgroep van de BeSHG enkele minimale richtlijnen (Download) uit inzake variant classficatie met t
Lees meerQuality control of digital PCR assays and platforms
16 augustus 2017Digital polymerase chain reaction (digital PCR, dPCR) is a direct nucleic acid quantification method, thus requiring no standard curves unlike quantitative real-time PCR (qPCR). Nevertheless, evaluation of the linear dynamic range, accuracy, and p
Lees meerLong Noncoding RNA Expression Profiling in Normal B-Cell Subsets and Hodgkin Lymphoma Reveals Hodgkin and Reed-Sternberg Cell-Specific Long Noncoding RNAs.
09 juni 2017AbstractHodgkin lymphoma (HL) is a malignancy of germinal center (GC) B-cell origin. To explore the role of long noncoding RNAs (lncRNAs) in HL, we studied lncRNA expression patterns in normal B-cell subsets, HL cell lines, and tiss
Lees meerBrugge loopt voor de tweede keer tegen kanker.
09 juni 2017In het provinciehuis Boeverbos is de aftrap gegeven voor Levensloop Brugge 2017.Die tweede editie vindt op 7 en 8 oktober opnieuw plaats op de terreinen van Sport Vlaanderen in Assebroek. Lees het volledige artikel hier:
Lees meerEn plots was er 15 miljoen euro
09 juni 2017Geert Mortier (Centrum Medische Genetica, UZ Antwerpen), Eric Legius (Centrum Menselijke Erfelijkheid, UZ Leuven
Lees meerNew Scientist Wetenschapstalent 2017
29 mei 2017Hetty Helsmoortel is één van de top-25 genomineerden in de New Scientist Wetenschapstalent 2017. Hetty heeft in belangrijke mate bijgedragen tot het kankeronderzoek van het Centrum voor Medische Genetica Gent en is inmiddels uitgegroeid tot een m
Lees meerMicroRNA-184 is a downstream effector of albuminuria driving renal fibrosis in rats with diabetic nephropathy.
19 april 2017Zanchi C, Macconi D, Trionfini P, Tomasoni S, Rottoli D, Locatelli M, Rudnicki M, Vandesompele J, Mestdagh P, Remuzzi G, Benigni A, Zoja C.Diabetologia. 2017 Mar 31. doi: 10.1007/s00125-017-4248-9. [Epub ahead of print]PMID: 28364255 [PubM
Lees meerLong non-coding RNAs in cutaneous melanoma: clinical perspectives doi: 10.18632/oncotarget.16478
19 april 2017Eva Hulstaert1, Lieve Brochez1, Pieter-Jan Volders2,3,4, Jo Vandesompele2,3,4 and Pieter Mestdagh
Lees meerModel-Based Classification for Digital PCR: Your Umbrella for Rain
19 april 2017Bart K. M. Jacobs*† , Els Goetghebeur†, Jo Vandesompele‡¶§, Ariane De Ganck¶, Nele Nijs¶, Anneleen Beckers¶, Nina Papazova∥, Nancy H. Roosens∥, and Lieven Clement*†§† Department of Applied Mathematics, Computer Science and Statistics, Ghent Un
Lees meerArrayCGH voor analyse van multipel myeloom stalen
21 maart 2017Op 1 januari 2017 schakelde het centrum voor medische genetica Gent voor de analyse van de multipel myeloom stalen over van conventionele karyotypering naar moleculaire karyotypering (arrayCGH).Op basis van een interne vergelijking en validati
Lees meerMutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
11 januari 2017Abstract: Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosom
Lees meermiSTAR: miRNA target prediction through modeling quantitative and qualitative miRNA binding site information in a stacked model structure
05 januari 2017Abstract In microRNA (miRNA) target prediction, typically two levels of information need to be modeled: the num- ber of potential miRNA binding sites present in a target mRNA and the genomic context of each in- dividual site. Single
Lees meerThe genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
18 november 2016Abstract: Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the lan
Lees meerStage 4S neuroblastoma tumors show a characteristic DNA methylation portrait.
20 september 2016Abstract: Stage 4S neuroblastoma (NB) is a special type of NB found in infants with metastases at diagnosis and is associated with an excellent outcome due to its remarkable capacity to undergo spontaneous regression. As
Lees meerBATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.
15 september 2016Abstract Targeted mutagenesis by the CRISPR/Cas9 system is currently revolutionizing genetics. The ease of this technique has enabled genome engineering in-vitro and in a range of model organisms and has pushed experimental
Lees meerRT-qPCR gene expression analysis in zebrafish: Preanalytical precautions and use of expressed repetitive elements for normalization.
15 september 2016Abstract Methods Cell Biol. 2016;135:329-42. doi: 10.1016/bs.mcb.2016.02.002. Epub 2016 Mar 4. Gene expression analysis is increasingly important in many fields of biological research. Understanding patterns of expre
Lees meerLoss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.
15 september 2016Abstract Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease Osteogenesis Imperfecta (OI). BS is caused by bi-allelic m
Lees meerBuried Treasure
27 juli 2016Noncoding DNA makes up the majority of our genomes, much of it being conserved and transcribed. Though the functions of small regulatory RNA molecules are well known, what about so-called long non-coding RNA? Pioneering scientists are diggin
Lees meerIdentification of long non-coding RNAs involved in neuronal development and intellectual disability
20 juni 2016Recently, exome sequencing led to the identification of causal mutations in 16–31% of patients with intellectual disability (ID), leaving the underlying cause for many patients unidentified. In this context, the noncoding part of the human genome
Lees meerEuropean Society of Human Genetics Poster Awards
27 mei 2016At the European Human Genetics Conference (May 21-24, Barcelona, Spain), Eva De Vilder and Tim Van Damme have won poster awards for their outstanding presentations entitled: 'Rare modifier variants alter the severity of cardiovascular diseas
Lees meerImplementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
19 mei 2016OBJECTIVES: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15 months experience on clinical samples.
Lees meerNieuwe versie aanvraagformulier voor postnataal genetisch onderzoek en aanvraagformulier genetisch onderzoek maligne cellen
18 april 2016Er is een nieuwe versie van het aanvraagformulier voor postnataal genetisch onderzoek en het aanvraagformulier voor genetisch onderzoek maligne cellen beschikbaar. De nieuwe versie van het aanvraagformulier voor postnataal genetisch onderzoek omva
Lees meerC4CC
01 april 2016Beste C4CC-sympathisanten,Het is bijna niet te geloven maar ondertussen zijn we bijna 2 jaar verder na de succesvolle C4CC fundraising en team building activiteit. Graag hadden we jullie
Lees meer‘Rommel-DNA’ speelt rol bij huidkanker
24 maart 2016Vlaamse onderzoekers ontdekken gen dat cruciaal is voor de meest agressieve vorm van huidkanker.Klik hier voor meer informatie
Lees meerMelanoma addiction to the long non-coding RNA SAMMSON
24 maart 2016Abstract: Focal amplifications of chromosome 3p13–3p14 occur in about 10% of melanomas and are associated with a poor prognosis. The melanoma-specific oncogene MITF resides at the epicentre of this amplicon
Lees meerBreakthrough in diagnosis of melanoma skin cancer
23 maart 2016Summary: Researchers have revealed a remarkable link between malignant melanoma and a non-coding RNA gene called SAMMSON. The SAMMSON gene is expressed in human malignant melanoma and, strikingly, the growth o
Lees meerZebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin
02 maart 2016Abstract: Over the last years the zebrafish imposed itself as a powerful model to study skeletal diseases, but a limit to its use is the poor characterization of collagen type I, the most
Lees meerStraightforward and sensitive RT-qPCR based gene expression analysis of FFPE samples
25 februari 2016Abstract: Fragmented RNA from formalin-fixed paraffin-embedded (FFPE) tissue is a known obstacle to gene expression analysis. In this study, the impact of RNA integrity, gene-specific reverse transcription and targeted cDNA
Lees meerDNA methylation profiling of primary neuroblastoma tumors using methyl-CpG-binding domain sequencing.
10 februari 2016Abstract: Comprehensive genome-wide DNA methylation studies in neuroblastoma (NB), a childhood tumor that originates from precursor cells of the sympathetic nervous system, are scarce. Recently, we profiled the DNA methylome
Lees meerA Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa
03 februari 2016PURPOSE: To identify mutations in FAM161A underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch and Belgian populations and to investigate whether common FAM161A-associated phenotypic features could be iden
Lees meerExpanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
21 januari 2016PURPOSE: The Ehlers-Danlos syndrome (EDS), dermatosparaxis type, is a recessively inherited connective tissue disorder caused by deficient activity of ADAMTS-2, an enzyme that cleaves the aminoterminal propeptide domain of t
Lees meerEditors of Blood Select the Top 10 Manuscripts of 2015
21 december 2015Congratulations to Joni Van der Meulen en co, her UTX paper is in the top 10 of Blood 201.More information
Lees meerPrincess Lilian Foundation Visiting Professorship 2015-2016 awarded to Prof. Dianna Milewicz
21 oktober 2015The Center for Medical Genetics (UGent) proudly announces that the Princess Lilian visiting professorship 2015-2016 has been awarded to Prof. Dianna Milewicz from the University of Texas (Houston, USA).
Lees meerLast updated: 2019-03-29
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