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51

A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?

Gutierrez-Roelens, Ilse, Roy, Luc De, Ovaert, Caroline, Sluysmans, Thierry, Devriendt, Koen, Brunner, Han G, Vikkula, Miikka

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 97 KB

english, 2006

52

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism

Castermans, Dries, Vermeesch, Joris R, Fryns, Jean-Pierre, Steyaert, Jean G, Van de Ven, Wim J M, Creemers, John W M, Devriendt, Koen

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 328 KB

english, 2007

53

Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1–22.2

Aimé Lumaka, Christine Van Hole, Ingele Casteels, Els Ortibus, Veerle De Wolf, Joris R. Vermeesch, Tshilobo Lukusa, Koen Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 290 KB

english, 2012

54

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications

Annapia Verri, Paola Maraschio, Koen Devriendt, Carla Uggetti, Emanuela Spadoni, Edward Haeusler, Antonio Federico

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 184 KB

english, 2004

55

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients

Ute Moog, Kees Van Roozendaal, Eric Smeets, Demis Tserpelis, Koen Devriendt, Griet Van Buggenhout, Jean-Pierre Frijns, Connie Schrander-Stumpel

Journal:

Brain and Development

Year:

2006

Language:

english

File:

PDF, 102 KB

english, 2006

56

Content validity and internal consistency of the Dutch translation of the Safety Attitudes Questionnaire: An observational study

Els Devriendt, Koen Van den Heede, Joke Coussement, Eddy Dejaeger, Kurt Surmont, Dirk Heylen, René Schwendimann, Bryan Sexton, Nathalie I.H. Wellens, Steven Boonen, Koen Milisen

Journal:

International Journal of Nursing Studies

Year:

2012

Language:

english

File:

PDF, 885 KB

english, 2012

57

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan, Ann Swillen, Jaco

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 325 KB

english, 2011

58

Cryptic translocation t(5;18) in familial mental retardation

Annick Vogels, Koen Devriendt, Joris R Vermeesch, Roeland Van Dael, Peter Marynen, Paul Dewaele, Jozef Hageman, Maureen Holvoet, Jean-Pierre Fryns

Journal:

Annales de Génétique

Year:

2000

Language:

english

File:

PDF, 839 KB

english, 2000

59

Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations

Suzanna G.M. Frints, Jean-Pierre Fryns, Lieven Lagae, Maria Syrrou, Peter Marynen, Koen Devriendt

Journal:

Annales de Génétique

Year:

2001

Language:

english

File:

PDF, 253 KB

english, 2001

60

Atypical presentation of the Prader–Willi syndrome. Mosaic Trisomy 15?

Annick Vogels, Maureen Holvoet, Mie-Jef Descheemaeker, Jean-Pierre Fryns, Koen Devriendt

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 84 KB

english, 2002

61

The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia

Koen Devriendt, Jean-Pierre Fryns

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 116 KB

english, 1994

62

Cohen syndrome: the clinical symptoms and stigmata at a young age

Jean-Pierre Fryns, Eric Legius, Koen Devriendt, Françoise Meire, Lieve Standaert, Emiel Baten, Herman Van den Berghe

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.31 MB

english, 1996

63

Chromosomal Anomalies in Individuals with Autism: A Strategy towards the Identification of Genes Involved in Autism

Castermans, Dries, Wilquet, Valérie, Steyaert, Jean, van de Ven, Wim, Fryns, Jean-Pierre, Devriendt, Koen

Journal:

Year:

2004

Language:

english

File:

PDF, 309 KB

english, 2004

64

Structure, Sequence, and Chromosome 19 Localization of HumanUSF2and Its Rearrangement in a Patient with Multicystic Renal Dysplasia

Peter M.A. Groenen, Emilio Garcia, Philippe Debeer, Koen Devriendt, Jean Pierre Fryns, Wim J.M.Van de Ven

Journal:

Year:

1996

Language:

english

File:

PDF, 905 KB

english, 1996

65

Structure of the human alpha-2 macroglobulin gene and its promotor

Gert Matthijs, Koen Devriendt, Jean-Jacques Cassiman, Herman Van den Berghe, Peter Marynen

Journal:

Biochemical and Biophysical Research Communications

Year:

1992

Language:

english

File:

PDF, 1.75 MB

english, 1992

66

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system

Benedetta Izzi, Brigitte Decallonne, Koen Devriendt, Roger Bouillon, Dirk Vanderschueren, Elena Levtchenko, Francis de Zegher, Annick Van den Bruel, Diether Lambrechts, Chris Van Geet, Kathleen Freson

Journal:

Clinica Chimica Acta

Year:

2010

Language:

english

File:

PDF, 282 KB

english, 2010

67

Editorial

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 64 KB

english, 2005

68

Clinical and Mutational Spectrum of Mowat–Wilson Syndrome

Christiane Zweier, Christian T Thiel, Andreas Dufke, Yanick J Crow, Peter Meinecke, Mohnish Suri, Sirpa Ala-Mello, Frits Beemer, Sergio Bernasconi, Paolo Bianchi, Andrea Bier, Koen Devriendt, Boyan Di

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 437 KB

english, 2005

69

Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution

Trine Prescott, Koen Devriendt, Ben Hamel, Marcel C. Pasch, Hilde Peeters, Vincent Vander Poorten, Ola Tallerås

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 202 KB

english, 2006

70

Editorial

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 63 KB

english, 2005

71

O5: Characterization of subtle copy number changes on the X chromosome identified in 7% of patients with X-linked mental retardation by high-resolution array-CGH

Marijke Bauters, Hilde Van Esch, Karen Hollanders, Koen Devriendt, Jean-Pierre Fryns, Peter Marynen, Guy Froyen

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 39 KB

english, 2005

72

Human laterality disorders

Hilde Peeters, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 426 KB

english, 2006

73

Signs in dysmorphology

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 53 KB

english, 2007

74

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications

Bernard Thienpont, Jeroen Breckpot, Joris R. Vermeesch, Marc Gewillig, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 332 KB

english, 2008

75

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1

Bernard Thienpont, Eftychia Dimitriadou, Katerina Theodoropoulos, Jeroen Breckpot, Helen Fryssira, Sophia Kitsiou-Tzeli, Meropi Tzoufi, Joris R. Vermeesch, Maria Syrrou, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 166 KB

english, 2009

76

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

Thomy J.L. de Ravel, Liliane Ameye, Katleen Ballon, Martine Borghgraef, Joris R. Vermeesch, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 155 KB

english, 2009

77

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: “Circumferential skin creases Kunze type”

Leen Wouters, Celia Maria Rodriguez Rodriguez, Elena Porta Dapena, Vincent Vander Poorten, Koen Devriendt, Hilde Van Esch

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 615 KB

english, 2011

78

Genetic control of intra-uterine growth

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2000

Language:

english

File:

PDF, 120 KB

english, 2000

79

PALML, a novel paralemmin-related gene mapping on human chromosome 1p21

Nuria Andreu, Mònica Escarceller, Sally Feather, Koen Devriendt, Adrian S. Wolf, Xavier Estivill, Lauro Sumoy

Journal:

Year:

2001

Language:

english

File:

PDF, 441 KB

english, 2001

80

Primary, Nonsyndromic Vesicoureteric Reflux and Its Nephropathy Is Genetically Heterogeneous, with a Locus on Chromosome 1

Sally A. Feather, Sue Malcolm, Adrian S. Woolf, Victoria Wright, Diana Blaydon, Christopher J.D. Reid, Frances A. Flinter, Willem Proesmans, Koen Devriendt, Joan Carter, Paul Warwicker, Timothy H.J. G

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 647 KB

english, 2000

81

Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

Alexandre Irrthum, Marika J. Karkkainen, Koen Devriendt, Kari Alitalo, Miikka Vikkula

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 492 KB

english, 2000

82

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Elfride De Baere, Diane Beysen, Christine Oley, Birgit Lorenz, Julie Cocquet, Paul De Sutter, Koen Devriendt, Michael Dixon, Marc Fellous, Jean-Pierre Fryns, Arturo Garza, Christoffer Jonsrud, Pasi A.

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 849 KB

english, 2003

83

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier, Maarit M. Peippo, Juliane Hoyer, Sérgio Sousa, Armand Bottani, Jill Clayton-Smith, William Reardon, Jorge Saraiva, Alexandra Cabral, Ina Göhring, Koen Devriendt, Thomy de Ravel, Emi

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 732 KB

english, 2007

84

Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma

Genuardi, Maurizio, Klutz, Martina, Devriendt, Koen, Caruso, Daniela, Stirpe, Mario, Lohmann, Dietmar R

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 268 KB

english, 2001

85

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

Herman, Sean B., Guo, Tingwei, McGinn, Donna M. McDonald, Blonska, Anna, Shanske, Alan L., Bassett, Anne S., Chow, Eva W.C., Bowser, Mark, Sheridan, Molly, Beemer, Frits, Devriendt, Koen, Swillen, Ann

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 1009 KB

english, 2012

86

Chromosome mapping using polymerase chain reaction on somatic cell hybrids

Ji Zhang, Koen Devriendt, Peter Marynen, Herman Van Den Berghe, Jean-Jacques Cassiman

Journal:

Cancer Genetics and Cytogenetics

Year:

1990

Language:

english

File:

PDF, 288 KB

english, 1990

87

Loss of the Y-chromosome in a malignant Sertoli tumor

Magdy S. Aly, Paola Dal Cin, Philippe Moerman, Ivo De Wever, Koen Devriendt, Penelope Brock, Maria Casteels-Van Daele, Herman Van den Berghe

Journal:

Cancer Genetics and Cytogenetics

Year:

1993

Language:

english

File:

PDF, 747 KB

english, 1993

88

Primary structure of pregnancy zone protein. Molecular cloning of a full-length PZP cDNA clone by the polymerase chain reaction

Koen Devriendt, Herman Van den Berghe, Jean-Jacques Cassiman, Peter Marynen

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1991

Language:

english

File:

PDF, 804 KB

english, 1991

89

06-P038 Great vessel development requires dizygous expression of Chd7 and Tbx1 in pharyngeal ectoderm

Karen McCue, Victoria Randall, Catherine Roberts, Vanessa Kyriakopoulou, Francesca Vitelli, Katrina Prescott, Koen Devriendt, Charles Shaw-Smith, Subreena Simrick, M. Albert Basson, Elizabeth Illingwo

Journal:

Mechanisms of Development

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

90

Fetal surgery is a clinical reality

Jan A. Deprest, Roland Devlieger, Kasemsri Srisupundit, Veronika Beck, Inga Sandaite, Silvia Rusconi, Filip Claus, Gunnar Naulaers, Marc Van de Velde, Paul Brady, Koen Devriendt, Joris Vermeesch, Jaan

Journal:

Seminars in Fetal and Neonatal Medicine

Year:

2010

Language:

english

File:

PDF, 506 KB

english, 2010

91

Predictive Testing for Hereditary Nonpolyposis Colorectal Cancer: Subjective Perception Regarding Colorectal and Endometrial Cancer, Distress, and Health-related Behavior at One Year Post-Test

Claes, Erna, Denayer, Lieve, Evers-Kiebooms, Gerry, Boogaerts, Andrea, Philippe, Kristien, Tejpar, Sabine, Devriendt, Koen, Legius, Eric

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 106 KB

english, 2005

92

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter,

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 668 KB

english, 2013

93

The interRAI Acute Care instrument incorporated in an eHealth system for standardized and web-based geriatric assessment: strengths, weaknesses, opportunities and threats in the acute hospital setting

Devriendt, Els, Wellens, Nathalie I H, Flamaing, Johan, Declercq, Anja, Moons, Philip, Boonen, Steven, Milisen, Koen

Journal:

Year:

2013

Language:

english

File:

PDF, 1.36 MB

english, 2013

94

Association of CDH11 with non-syndromic ASD

Crepel, An, De Wolf, Veerle, Brison, Nathalie, Ceulemans, Berten, Walleghem, Didier, Peuteman, Gilian, Lambrechts, Diether, Steyaert, Jean, Noens, Ilse, Devriendt, Koen, Peeters, Hilde

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2014

Language:

english

File:

PDF, 207 KB

english, 2014

95

A cluster of α2-macroglobulin-related genes (α2M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an α2M pseudogene

Devriendt, Koen, Zhang, Ji, van Leuven, Fred, van den Berghe, Herman, Cassiman, Jean-Jacques, Marynen, Peter

Journal:

Year:

1989

Language:

english

File:

PDF, 1.01 MB

english, 1989

96

Presenting symptoms in adults with the 22q11 deletion syndrome

Vogels, Annick, Schevenels, Sara, Cayenberghs, Richard, Weyts, Eddy, Van Buggenhout, Griet, Swillen, Ann, Van Esch, Hilde, de Ravel, Thomy, Corveleyn, Pieter, Devriendt, Koen

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 235 KB

english, 2014

97

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

Rossenbacker, Tom, Carroll, Sheila J., Liu, Huajun, Kuipéri, Cuno, de Ravel, Thomy J.L., Devriendt, Koen, Carmeliet, Peter, Kass, Robert S., Heidbüchel, Hein

Journal:

Year:

2004

Language:

english

File:

PDF, 213 KB

english, 2004

98

Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice

Nuytens, Kim, Gantois, Ilse, Stijnen, Pieter, Iscru, Emilia, Laeremans, Annelies, Serneels, Lutgarde, Van Eylen, Lien, Liebhaber, Stephen A., Devriendt, Koen, Balschun, Detlef, Arckens, Lutgarde, Cree

Journal:

Neurobiology of Disease

Year:

2013

Language:

english

File:

PDF, 911 KB

english, 2013

99

Atypical Neuropsychological Profile in a Boy with 22q11.2 Deletion Syndrome Keywords:

Stiers, Peter, Swillen, Ann, De Smedt, Bert, Lagae, Lieven, Devriendt, Koen, D'Agostino, Emiliano, Sunaert, Stefan, Fryns, andJean-Pierre

Journal:

Child Neuropsychology

Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

100

Neuropsychological, Learning and Psychosocial Profile of Primary School Aged Children with the Velo-Cardio-Facial Syndrome (22q11 Deletion): Evidence for a Nonverbal Learning Disability?

Vandeputte, Leen, Cracco, Joris, Maes, Bea, Ghesqui�re, Pol, Devriendt, Koen, Fryns, Jean-Pierre, Swillen, Ann

Journal:

Child Neuropsychology

Year:

1999

Language:

english

File:

PDF, 120 KB

english, 1999