Centre de Génétique Médicale de Gand Centre de Génétique Médicale de Gand

Nouvelles

​Cardiologe Julie De Backer krijgt 450.000 euro voor onderzoek naar genetische defecten.

26 avril 2019

Cardiologe Julie De Backer krijgt 450.000 euro voor onderzoek naar genetische defecten "thoracale aorta" : Het Fonds Baillet Latour heeft zijn jaarlijkse werkingskrediet toegekend aan professor Julie De Backer van het UZ Gent voor haar onderzoek n

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AJMG - PartA / DOI: 10.1002/ajmg.a.61119

29 mars 2019

Ptosis 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

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nieuwe policy voor opsporing van de c.665C>T variant in het MTHFR gen voor multifactoriële aandoeningen

22 février 2019

Betreft: nieuwe policy voor opsporing van de c.665C>T (p.A222V) (historisch gekend als C677T) variant in het MTHFR gen voor multifactoriële aandoeninge

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Nieuwe versie aanvraagformulier postnataal genetisch onderzoek

18 février 2019

Er 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

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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

01 février 2019

Bi-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

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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

01 février 2019

Bi-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

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A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

01 février 2019

Hum 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,

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Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients.

07 décembre 2018

Circulating 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

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Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients.

07 décembre 2018

Circulating 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

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Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients.

07 décembre 2018

Circulating 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

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A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.

30 novembre 2018

Hum 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

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CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments.

26 novembre 2018

ABSTRACTTargeted 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

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TBX2 is a neuroblastoma core regulatory circuitry component enhancing MYCN/FOXM1 reactivation of DREAM targets

22 novembre 2018

Abstract 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

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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

20 septembre 2018

De 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

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Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

10 août 2018

AbstractThe 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

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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

05 juillet 2018

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. Authors:Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D

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International Symposium on the Ehlers-Danlos syndromes

19 juin 2018

When: 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

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PhD fellowship vacancy in pediatric oncology

05 juin 2018

PhD fellowship vacancy in pediatric oncology "Therapy response monitoring in pediatric cancer basket trial patients" The position:

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Hetty Helsmoortel wint de Prijs De Maakbare Mens

23 avril 2018

Op 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

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New postal address

18 janvier 2018

Please note, our postal address has been changed from De Pintelaan 185 - 9000 Gent to C. Heymanslaan 10 - 9000 Gent

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Nieuwe richtlijnen BelMolGen

12 octobre 2017

Recent gaf de BelMolGen werkgroep van de BeSHG enkele minimale richtlijnen (Download) uit inzake variant classficatie met t

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Quality control of digital PCR assays and platforms

16 août 2017

Digital 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

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Long Noncoding RNA Expression Profiling in Normal B-Cell Subsets and Hodgkin Lymphoma Reveals Hodgkin and Reed-Sternberg Cell-Specific Long Noncoding RNAs.

09 juin 2017

AbstractHodgkin 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

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Brugge loopt voor de tweede keer tegen kanker.

09 juin 2017

In 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:

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En plots was er 15 miljoen euro

09 juin 2017

Geert Mortier (Centrum Medische Genetica, UZ Antwerpen), Eric Legius (Centrum Menselijke Erfelijkheid, UZ Leuven

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New Scientist Wetenschapstalent 2017

29 mai 2017

Hetty 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

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MicroRNA-184 is a downstream effector of albuminuria driving renal fibrosis in rats with diabetic nephropathy.

19 avril 2017

Zanchi 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

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Long non-coding RNAs in cutaneous melanoma: clinical perspectives doi: 10.18632/oncotarget.16478

19 avril 2017

Eva Hulstaert1, Lieve Brochez1, Pieter-Jan Volders2,3,4, Jo Vandesompele2,3,4 and Pieter Mestdagh

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Model-Based Classification for Digital PCR: Your Umbrella for Rain

19 avril 2017

Bart 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

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ArrayCGH voor analyse van multipel myeloom stalen

21 mars 2017

Op 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

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Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

11 janvier 2017

Abstract: 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

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miSTAR: miRNA target prediction through modeling quantitative and qualitative miRNA binding site information in a stacked model structure

05 janvier 2017

Abstract 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

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

18 novembre 2016

Abstract: Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the lan

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Stage 4S neuroblastoma tumors show a characteristic DNA methylation portrait.

20 septembre 2016

Abstract: 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

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BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

15 septembre 2016

Abstract 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

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RT-qPCR gene expression analysis in zebrafish: Preanalytical precautions and use of expressed repetitive elements for normalization.

15 septembre 2016

Abstract 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

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Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

15 septembre 2016

Abstract 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

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Buried Treasure

27 juillet 2016

Noncoding 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

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Melanomen zijn verslaafd aan SAMMSON

20 juin 2016

Melanomen zijn verslaafd aan SAMMSON

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Identification of long non-coding RNAs involved in neuronal development and intellectual disability

20 juin 2016

Recently, 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

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European Society of Human Genetics Poster Awards

27 mai 2016

At 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

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Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

19 mai 2016

OBJECTIVES: 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.

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Nieuwe versie aanvraagformulier voor postnataal genetisch onderzoek en aanvraagformulier genetisch onderzoek maligne cellen

18 avril 2016

Er 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

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C4CC

01 avril 2016

Beste 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

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‘Rommel-DNA’ speelt rol bij huidkanker

24 mars 2016

Vlaamse onderzoekers ontdekken gen dat cruciaal is voor de meest agressieve vorm van huidkanker.Klik hier voor meer informatie

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Melanoma addiction to the long non-coding RNA SAMMSON

24 mars 2016

Abstract: 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

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Breakthrough in diagnosis of melanoma skin cancer

23 mars 2016

Summary: 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

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Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin

02 mars 2016

Abstract: 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

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Straightforward and sensitive RT-qPCR based gene expression analysis of FFPE samples

25 février 2016

AbstractFragmented 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 cD

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DNA methylation profiling of primary neuroblastoma tumors using methyl-CpG-binding domain sequencing.

10 février 2016

Abstract: 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

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A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

03 février 2016

PURPOSE: 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

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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

21 janvier 2016

AbstractPURPOSE: 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 prope

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Editors of Blood Select the Top 10 Manuscripts of 2015

21 décembre 2015

Congratulations to Joni Van der Meulen en co, her UTX paper is in the top 10 of Blood 201.More information

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Princess Lilian Foundation Visiting Professorship 2015-2016 awarded to Prof. Dianna Milewicz

21 octobre 2015

The 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).

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Last updated: 2019-04-26
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