Vermeesch, Joris: search on Z-Library

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51

Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain

Linthorst, Jasper, Meert, Wim, Hestand, Matthew S., Korlach, Jonas, Vermeesch, Joris Robert, Reinders, Marcel J. T., Holstege, Henne

Journal:

Translational Psychiatry

Year:

2020

File:

PDF, 1.66 MB

2020

52

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH

Edith Said, Alfred Cuschieri, Joris Vermeesch, Jean Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 230 KB

english, 2011

53

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

Frenny Sheth, Elisabeth Ewers, Nadezda Kosyakova, Anja Weise, Jayesh Sheth, Manisha Desai, Joris Andrieux, Joris Vermeesch, Ahmed B Hamid, Monika Ziegler, Thomas Liehr

Journal:

Molecular Cytogenetics

Year:

2009

Language:

english

File:

PDF, 454 KB

english, 2009

54

Novel Hyperactive Transposons for Genetic Modification of Induced Pluripotent and Adult Stem Cells: A Nonviral Paradigm for Coaxed Differentiation

Eyayu Belay, Janka Mátrai, Abel Acosta-Sanchez, Ling Ma, Mattia Quattrocelli, Lajos Mátés, Pau Sancho-Bru, Martine Geraerts, Bing Yan, Joris Vermeesch, Melvin Yesid Rincón, Ermira Samara-Kuko, Zoltán

Journal:

Year:

2010

Language:

english

File:

PDF, 994 KB

english, 2010

55

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

W. Courtens, Dominique Grossman, Nadine Van Roy, Ludwine Messiaen, Esther Vamos, Veronique Toppet, Dominique Haumont, Catherine Streydio, Anna Jauch, Joris Robert Vermeesch, Frank Speleman

Journal:

Year:

1998

Language:

english

File:

PDF, 381 KB

english, 1998

56

Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

Engbers, Hannelie, van der Smagt, Jasper J, van ‘t Slot, Ruben, Vermeesch, Joris R, Hochstenbach, Ron, Poot, Martin

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 249 KB

english, 2008

57

GPC4,the Gene for Human K-Glypican, FlanksGPC3on Xq26: Deletion of theGPC3–GPC4Gene Cluster in One Family with Simpson–Golabi–Behmel Syndrome

Mark Veugelers, Joris Vermeesch, Ken Watanabe, Yu Yamaguchi, Peter Marynen, Guido David

Journal:

Year:

1998

Language:

english

File:

PDF, 728 KB

english, 1998

58

O9: Array CGH using microdissected chromosomes to map chromosomal breakpoints

Liesbeth F.P. Backx, Hilde Van Esch, Cindy Melotte, Nadezda Kosyakova, Jean-Pierre Frijns, Thomas Liehr, Joris R. Vermeesch

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 46 KB

english, 2005

59

Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial

Deprest, Jan, Brady, Paul, Nicolaides, Kypros, Benachi, Alexandra, Berg, Christoph, Vermeesch, Joris, Gardener, Glenn, Gratacos, Eduard

Journal:

Seminars in Fetal and Neonatal Medicine

Year:

2014

Language:

english

File:

PDF, 1.62 MB

english, 2014

60

Transfer of aneuploid embryos following preimplantation genetic diagnosis: the added value of a haplotyping-based genome-wide approach

Melotte, Cindy, Dimitriadou, Eftychia, Debrock, Sophie, Devriendt, Koen, De Ravel, Thomy, Legius, Eric, Peeraer, Karen, Vermeesch, Joris Robert

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

61

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1

Jeroen Breckpot, Bernard Thienpont, Marijke Bauters, Leon-Charles Tranchevent, Marc Gewillig, Karel Allegaert, Joris R. Vermeesch, Yves Moreau, Prof. Koenraad Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 246 KB

english, 2012

62

A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: Clinical, cytogenetic, and molecular findings

Griet Van Buggenhout, Nicole M.C. Maas, Jean-Pierre Fryns, Joris R. Vermeesch

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 124 KB

english, 2004

63

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay

Femke Hannes, Malgorzata Drozniewska, Joris R. Vermeesch, Olga Haus

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 722 KB

english, 2010

64

The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping

Dmitry Novikov, Martine Dieuaide-Noubhani, Joris R Vermeesch, Beatrice Fournier, Guy P Mannaerts, Paul P Van Veldhoven

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1997

Language:

english

File:

PDF, 430 KB

english, 1997

65

Preimplantation genetic diagnosis guided by single-cell genomics

Niels Van der Aa,Masoud Zamani Esteki,Joris R Vermeesch,Thierry Voet

Journal:

Genome Medicine

Year:

2013

Language:

english

File:

PDF, 168 KB

english, 2013

66

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Hammond, Peter, Hannes, Femke, Suttie, Michael, Devriendt, Koen, Vermeesch, Joris Robert, Faravelli, Francesca, Forzano, Francesca, Parekh, Susan, Williams, Steve, McMullan, Dominic, South, Sarah T, C

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 577 KB

english, 2012

67

Current controversies in prenatal diagnosis 3: Industry drives innovation in research and clinical application of genetic prenatal diagnosis and screening.

Evans, Mark I., Vermeesch, Joris Robert

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 480 KB

english, 2016

68

Author Correction: Improved reference genome for the domestic horse increases assembly contiguity and composition

Kalbfleisch, Theodore S., Rice, Edward S., DePriest, Michael S., Walenz, Brian P., Hestand, Matthew S., Vermeesch, Joris R., O’Connell, Brendan L., Fiddes, Ian T., Vershinina, Alisa O., Saremi, Nedda

Journal:

Communications Biology

Year:

2019

Language:

english

File:

PDF, 308 KB

english, 2019

69

Pathogenic significance of deletions distal to the currently described Wolf–Hirschhorn syndrome critical regions on 4p16.3

Sarah T. South, Femke Hannes, Gene S. Fisch, Joris Robert Vermeesch, Marcella Zollino

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2008

Language:

english

File:

PDF, 132 KB

english, 2008

70

Array CGH analysis in primary gastrointestinal stromal tumors: Cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status

Agnieszka Wozniak, Raf Sciot, Louis Guillou, Patrick Pauwels, Bartosz Wasag, Michel Stul, Joris Robert Vermeesch, Peter Vandenberghe, Janusz Limon, Maria Debiec-Rychter

Journal:

Genes, Chromosomes and Cancer

Year:

2007

Language:

english

File:

PDF, 611 KB

english, 2007

71

Post-zygotic origin of isochromosome 12p

Dr Thomy J. L. de Ravel, Kathelijn Keymolen, Elvire van Assche, Ingrid Wittevronghel, Philippe Moerman, Ivo Salden, Gert Matthijs, Jean-Pierre Fryns, Joris R. Vermeesch

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

72

SSCP: a tool for contig building of duplicated genomic regions

Catalina López-Correa, Hein Duhamel, Hilde Brems, Peter Marynen, Eric Legius, Joris Robert Vermeesch

Journal:

Technical Tips Online

Year:

2000

Language:

english

File:

PDF, 139 KB

english, 2000

73

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)

Irina Balikova, Joris Robert Vermeesch, Jean-Pierre Fryns, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009

74

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Caroline Robberecht, Thierry Voet, Gülen E Utine, Albert Schinzel, Nicole de Leeuw, Jean-Pierre Fryns, Joris Vermeesch

Journal:

Molecular Cytogenetics

Year:

2012

Language:

english

File:

PDF, 645 KB

english, 2012

75

Haplotyping and copy-number profiling of single cells by massive parallel sequencing

Masset, Heleen, Dimitriadou, Eftychia, Zamani Esteki, Masoud, Voet, Thierry, Vermeesch, Joris R.

Journal:

Reproductive BioMedicine Online

Year:

2018

Language:

english

File:

PDF, 52 KB

english, 2018

76

Gene Editing Should Replace Embryo Selection Following PGD

Wells, Dagan, Vermeesch, Joris Robert, Simpson, Joe Leigh

Journal:

Prenatal Diagnosis

Year:

2019

Language:

english

File:

PDF, 316 KB

english, 2019

77

Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting

Žilina, Olga, Rekker, Kadri, Kaplinski, Lauris, Sauk, Martin, Paluoja, Priit, Teder, Hindrek, Ustav, Eva‐Liina, Tõnisson, Neeme, Reimand, Tiia, Ridnõi, Konstantin, Palta, Priit, Vermeesch, Joris Rober

Journal:

Prenatal Diagnosis

Year:

2019

Language:

english

File:

PDF, 234 KB

english, 2019

78

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Vermeesch, Joris Robert, Fiegler, Heike, de Leeuw, Nicole, Szuhai, Karoly, Schoumans, Jacqueline, Ciccone, Roberto, Speleman, Frank, Rauch, Anita, Clayton-Smith, Jill, Van Ravenswaaij, Conny

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 125 KB

english, 2007

79

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome

Gebhardt, G Stefan, Devriendt, Koenraad, Thoelen, Reinhilde, Swillen, Ann, Pijkels, Elly, Gewillig, Marc, Fryns, Jean-Pierre, Vermeesch, Joris R

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 110 KB

english, 2003

80

Genomic microarrays: a technology overview

Paul D. Brady, Joris R. Vermeesch

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 231 KB

english, 2012

81

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

Thomy J. de Ravel, Irina Balikova, Paul Thiry, Joris R. Vermeesch, Jean-Pierre Frijns

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 183 KB

english, 2009

82

Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial

Sophie Debrock, Cindy Melotte, Carl Spiessens, Karen Peeraer, Evelyne Vanneste, Luc Meeuwis, Christel Meuleman, Jean-Pierre Frijns, Joris R. Vermeesch, Thomas M. D'Hooghe

Journal:

Fertility and Sterility

Year:

2010

Language:

english

File:

PDF, 180 KB

english, 2010

83

Direct fluorescent labelling of clones by DOP PCR

Liesbeth Backx, Reinhilde Thoelen, Hilde Van Esch, Joris R Vermeesch

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 341 KB

english, 2008

84

Microdissection and FISH Investigations in Acute Myeloid Leukemia: A Step Forward to Full Identification of Complex Karyotypic Changes

Daniela Falzetti, Joris R Vermeesch, Caterina Matteucci, Stefania Ciolli, Massimo F Martelli, Peter Marynen, Cristina Mecucci

Journal:

Cancer Genetics and Cytogenetics

Year:

2000

Language:

english

File:

PDF, 2.05 MB

english, 2000

85

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Björn Menten, Filip Pattyn, Katleen De Preter, Piet Robbrecht, Evi Michels, Karen Buysse, Geert Mortier, Anne De Paepe, Steven van Vooren, Joris Vermeesch, Yves Moreau, Bart De Moor, Stefan Vermeulen,

Journal:

BMC Bioinformatics

Year:

2005

Language:

english

File:

PDF, 364 KB

english, 2005

86

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome

Jeroen Breckpot, Werner Budts, Francis De Zegher, Joris R. Vermeesch, Koenraad Devriendt

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 378 KB

english, 2010

87

Genomic organization and evolution of the NF1 microdeletion region

Thomas De Raedt, Hilde Brems, Catalina Lopez-Correa, Joris Robert Vermeesch, Peter Marynen, Eric Legius

Journal:

Year:

2004

Language:

english

File:

PDF, 1.81 MB

english, 2004

88

Reply to Salviati et al.

Damien Sanlaville, Capucine Delnatte, Jean-François Mougenot, Joris-Robert Vermeesch, Claude Houdayer, Marie-Christine de Blois, David Genevieve, Olivier Goulet, Jean-Pierre Fryns, Francis Jaubert, Mi

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 99 KB

english, 2006

89

Novel CASK mutations in cases with syndromic microcephaly

Cristofoli, Francesca, Devriendt, Koen, Davis, Erica E., Van Esch, Hilde, Vermeesch, Joris R.

Journal:

Year:

2018

Language:

english

File:

PDF, 949 KB

english, 2018

90

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next generation sequencing

Kammoun, Molka, Souche, Erika, Brady, Paul, Ding, Jia, Cosemans, Nele, Gratacos, Eduard, Devriendt, Koen, Eixarch, Elisenda, Deprest, Jan, Vermeesch, Joris Robert

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 727 KB

english, 2018

91

GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments

Herten, Koen, Hestand, Matthew S, Vermeesch, Joris R, Van Houdt, Jeroen KJ

Journal:

BMC Bioinformatics

Year:

2015

Language:

english

File:

PDF, 434 KB

english, 2015

92

Prenatal and pre-implantation genetic diagnosis

Vermeesch, Joris Robert, Voet, Thierry, Devriendt, Koenraad

Journal:

Nature Reviews Genetics

Year:

2016

Language:

english

File:

PDF, 1.21 MB

english, 2016

93

Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells

Masoumi, Zahra, Maes, Gregory E., Herten, Koen, Cortés-Calabuig, Álvaro, Alattar, Abdul Ghani, Hanson, Eva, Erlandsson, Lena, Mezey, Eva, Magnusson, Mattias, Vermeesch, Joris R, Familari, Mary, Hansso

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 3.32 MB

english, 2019

94

Noninvasive prenatal testing detected acute myeloid leukemia in paucisymptomatic pregnant patient

Rengifo, Laura Yissel, Michaux, Lucienne, Maertens, Johan, Tousseyn, Thomas, Lenaerts, Liesbeth, Vermeesch, Joris Robert, Vandenberghe, Peter, Dewaele, Barbara

Journal:

Clinical Case Reports

Year:

2020

File:

PDF, 608 KB

2020

95

Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC

Thomas Liehr, Heike Starke, Gabriele Senger, Cindy Melotte, Anja Weise, Joris Robert Vermeesch

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 309 KB

english, 2006

96

Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss

Caroline Robberecht, Anne Pexsters, Jan Deprest, Jean-Pierre Fryns, Thomas D'Hooghe, Joris Robert Vermeesch

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 158 KB

english, 2012

97

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

Liesbeth Backx, Joris Vermeesch, Elly Pijkels, Thomy de Ravel, Eve Seuntjens, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 544 KB

english, 2010

98

Skeletal Muscle Repair by Adult Human Mesenchymal Stem Cells from Synovial Membrane

Cosimo De Bari, Francesco Dell'Accio, Frank Vandenabeele, Joris R. Vermeesch, Jean-Marc Raymackers and Frank P. Luyten

Journal:

The Journal of Cell Biology

Year:

2003

Language:

english

File:

PDF, 1.53 MB

english, 2003

99

The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium

Van Elslande, Jan, Brison, Nathalie, Vermeesch, Joris R., Devriendt, Koenraad, Van Den Bogaert, Kris, Legius, Eric, Van Ranst, Marc, Vermeersch, Pieter, Billen, Jaak

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2019

File:

PDF, 97 KB

2019

100

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes

Guy Froyen, Hilde Van Esch, Marijke Bauters, Karen Hollanders, Suzanna G.M. Frints, Joris R. Vermeesch, Koen Devriendt, Jean-Pierre Fryns, Peter Marynen

Journal:

Year:

2007

Language:

english

File:

PDF, 480 KB

english, 2007

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