Dheedene, A.: search on Z-Library

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1

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

Symoens, Sofie, Malfait, Fransiska, D’hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul J

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 902 KB

english, 2013

2

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

Deleye, Lieselot, Dheedene, Annelies, De Coninck, Dieter, Sante, Tom, Christodoulou, Christodoulos, Heindryckx, Björn, Van den Abbeel, Etienne, De Sutter, Petra, Deforce, Dieter, Menten, Björn, Van Ni

Journal:

Fertility and Sterility

Year:

2015

Language:

english

File:

PDF, 1.64 MB

english, 2015

3

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Jacobs, Eva Z., Brown, Kathleen, Byler, Melissa C., Dâhaenens, Erika, Dheedene, Annelies, Henderson, Lindsay B., Humberson, Jennifer B., Jaarsveld, Richard H., Kanani, Farah, Lebel, Robert Roger, Mi

Journal:

Clinical Genetics

Year:

2020

File:

PDF, 3.15 MB

2020

4

The HeterozygousLemd3+/GTMouse Is Not a Murine Model for Osteopoikilosis in Humans

Annelies Dheedene, Steven Deleye, Jan Hellemans, Steven Staelens, Stefaan Vandenberghe, Geert Mortier

Journal:

Calcified Tissue International

Year:

2009

Language:

english

File:

PDF, 249 KB

english, 2009

5

Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Jan Hellemans, Marleen Simon, Annelies Dheedene, Yasemin Alanay, Ercan Mihci, Laila Rifai, Abdelaziz Sefiani, Yolande van Bever, Morteza Meradji, Andrea Superti-Furga, Geert Mortier

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 729 KB

english, 2009

6

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome

D'Ambrosio, Valentina, Votino, Carmela, Cos, Teresa, Boulanger, Sebastien, Dheedene, Annelies, Jani, Jacques, Keymolen, Kathelijn

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 390 KB

english, 2015

7

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 671 KB

english, 2015

8

NOG EENS OVER DE PAARDENBEELDJES VAN ASSE-ELEWIJT

Journal:

L'Antiquité Classique

Year:

1960

File:

PDF, 342 KB

1960

9

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

Dheedene, Annelies, Sante, Tom, De Smet, Matthias, Vanbellinghen, Jean-François, Grisart, Bernard, Vergult, Sarah, Janssens, Sandra, Menten, Björn

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 789 KB

english, 2016

10

Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage

Christodoulou, Christodoulos, Dheedene, Annelies, Heindryckx, Björn, van Nieuwerburgh, Filip, Deforce, Dieter, De Sutter, Petra, Menten, Björn, Van den Abbeel, Etienne

Journal:

Fertility and Sterility

Year:

2016

Language:

english

File:

PDF, 848 KB

english, 2016

11

Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method

Deleye, Lieselot, Coninck, Dieter De, Christodoulou, Christodoulos, Sante, Tom, Dheedene, Annelies, Heindryckx, Björn, Abbeel, Etienne Van den, Sutter, Petra De, Menten, Björn, Deforce, Dieter, Nieuwe

Journal:

Scientific Reports

Year:

2015

Language:

english

File:

PDF, 1.60 MB

english, 2015

12

A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

Dheedene, A., Maes, M., Vergult, S., Menten, B.

Journal:

Molecular Syndromology

Year:

2013

Language:

english

File:

PDF, 454 KB

english, 2013

13

NR4A2 causes an autism spectrum disorder

Verhelst, Helene, Verloo, Patrick, Dheedene, Annelies, Callewaert, Bert, Menten, Björn

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

14

Shallow whole genome sequencing on circulating cell-free DNA allows reliable non-invasive copy number profiling in neuroblastoma patients

Van Roy, Nadine, Van der Linden, Malaika, Menten, Björn, Dheedene, Annelies, Vandeputte, Charlotte, Van Dorpe, Jo, Laureys, Geneviève, Renard, Marleen, Sante, Tom, Lammens, Tim, De Wilde, Bram, Spelem

Journal:

Clinical Cancer Research

Year:

2017

Language:

english

File:

PDF, 11.10 MB

english, 2017

15

Performance of a TthPrimPol-based whole genome amplification kit for copy number alteration detection using massively parallel sequencing

Deleye, Lieselot, De Coninck, Dieter, Dheedene, Annelies, De Sutter, Petra, Menten, Björn, Deforce, Dieter, Van Nieuwerburgh, Filip

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

16

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Van Paemel, Ruben, De Bruyne, Pauline, van der Straaten, Saskia, D'hondt, Marleen, Fränkel, Urlien, Dheedene, Annelies, Menten, Björn, Callewaert, Bert

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 462 KB

english, 2017

17

Multipotent Adult Progenitor Cells Support Lymphatic Regeneration at Multiple Anatomical Levels during Wound Healing and Lymphedema

Beerens, Manu, Aranguren, Xabier L., Hendrickx, Benoit, Dheedene, Wouter, Dresselaers, Tom, Himmelreich, Uwe, Verfaillie, Catherine, Luttun, Aernout

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 7.76 MB

english, 2018

18

Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing?

Popovic, M, Dheedene, A, Christodoulou, C, Taelman, J, Dhaenens, L, Van Nieuwerburgh, F, Deforce, D, Van den Abbeel, E, De Sutter, P, Menten, B, Heindryckx, B

Journal:

Human Reproduction

Year:

2018

Language:

english

File:

PDF, 2.52 MB

english, 2018

19

ViVar: A Comprehensive Platform for the Analysis and Visualization of Structural Genomic Variation

Sante, Tom, Vergult, Sarah, Volders, Pieter-Jan, Kloosterman, Wigard P., Trooskens, Geert, De Preter, Katleen, Dheedene, Annelies, Speleman, Frank, De Meyer, Tim, Menten, Björn, Lisacek, Frederique

Journal:

Year:

2014

Language:

english

File:

PDF, 1.34 MB

english, 2014

20

WisecondorX: improved copy number detection for routine shallow whole-genome sequencing

Raman, Lennart, Dheedene, Annelies, De Smet, Matthias, Van Dorpe, Jo, Menten, Björn

Journal:

Nucleic Acids Research

Year:

2019

Language:

english

File:

PDF, 2.27 MB

english, 2019

21

Extended in vitro culture of human embryos demonstrates the complex nature of diagnosing chromosomal mosaicism from a single trophectoderm biopsy

Popovic, M, Dhaenens, L, Taelman, J, Dheedene, A, Bialecka, M, De Sutter, P, Chuva de Sousa Lopes, S M, Menten, B, Heindryckx, B

Journal:

Human Reproduction

Year:

2019

Language:

english

File:

PDF, 1.05 MB

english, 2019

22

PREFACE: in silico pipeline for accurate cell-free fetal DNA fraction prediction

Raman, Lennart, Baetens, Machteld, De Smet, Matthias, Dheedene, Annelies, Van Dorpe, Jo, Menten, Björn

Journal:

Prenatal Diagnosis

Year:

2019

File:

PDF, 742 KB

2019

23

Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family

Heireman, Laura, Luyckx, Ariane, Schynkel, Katrien De, Dheedene, Annelies, Delaunoy, Mélanie, Adam, Anne-Sophie, Gulbis, Béatrice, Dierick, Johan

Journal:

Year:

2019

File:

PDF, 665 KB

2019

24

Extended In Vitro Culture of Human Embryos Demonstrates the Complex Nature of Diagnosing Chromosomal Mosaicism From a Single Trophectoderm Biopsy

Popovic, M., Dhaenens, L., Taelman, J., Dheedene, A., Bialecka, M., De Sutter, P., de Sousa Lopes, S. M. Chuva, Menten, B., Heindryckx, B.

Journal:

Obstetric and Gynecologic Survey

Year:

2019

File:

PDF, 59 KB

2019

25

Detection of Copy Number Alterations by Shallow Whole-Genome Sequencing of Formalin-Fixed, Paraffin-Embedded Tumor Tissue

Van der Linden, Malaïka, Raman, Lennart, Vander Trappen, Ansel, Dheedene, Annelies, De Smet, Matthias, Sante, Tom, Creytens, David, Lievens, Yolande, Menten, Björn, Van Dorpe, Jo, Van Roy, Nadine

Journal:

Archives of Pathology & Laboratory Medicine

Year:

2019

File:

PDF, 2.09 MB

2019

26

Unraveling the transcriptional determinants of Liver Sinusoidal Endothelial Cell specialization

de Haan, Willeke, Ãie, Cristina Ionica, Benkheil, Mohammed, Dheedene, Wouter, Vinckier, Stefan, Coppiello, Giulia, Aranguren, Xabier LÃ³pez, Beerens, Manu, Jaekers, Joris, Topal, Baki, Verfaillie, Ca

Journal:

American Journal of Physiology - Gastrointestinal and Liver Physiology

Year:

2020

File:

PDF, 4.42 MB

2020

27

Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism

Pozza, Elise, Verdin, Hannah, Deconinck, Hilde, Dheedene, Annelies, Menten, BjÃ¶rn, De Baere, Elfride, Balikova, Irina

Journal:

European Journal of Medical Genetics

Year:

2020

Language:

english

File:

PDF, 1.11 MB

english, 2020

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