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1

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fi

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

2

A complex Xp11.22 deletion in a patient with syndromic autism: Exploration of FAM120C as a positional candidate gene for autism

De Wolf, Veerle, Crepel, An, Schuit, Frans, van Lommel, Leentje, Ceulemans, Berten, Steyaert, Jean, Seuntjens, Eve, Peeters, Hilde, Devriendt, Koen

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 3.22 MB

english, 2014

3

Iris heterochromia: A variable feature in Verloes–Koulischer-oral-acral syndrome

Inge B. Mathijssen, Jean-Pierre Fryns, Koen Devriendt, Yves Sznajer, Maurice Van Eygen

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 100 KB

english, 2005

4

Left-ventricular non-compaction in a patient with monosomy 1p36

Bernard Thienpont, Luc Mertens, Gunnar Buyse, Joris R. Vermeesch, Koen Devriendt

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

5

Does the get up and go test improve predictive accuracy of the Triage Risk Screening Tool or Rowland questionnaire in older patients admitted to the emergency department?

Devriendt, Els, Deschodt, Mieke, Delaere, Maarten, Flamaing, Johan, Sabbe, Marc, Milisen, Koen

Journal:

European Journal of Emergency Medicine

Year:

2016

Language:

english

File:

PDF, 222 KB

english, 2016

6

Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations

Adant, Isabelle, Declercq, Mathias, Bird, Matthew, Bauters, Marijke, Boeckx, Nancy, Devriendt, Koen, Cassiman, David, Witters, Peter

Journal:

Journal of Hepatology

Year:

2020

File:

PDF, 588 KB

2020

7

Glypican 1 gene: Good candidate for brachydactyly type E

Maria Syrrou, Katelÿne Keymolen, Koen Devriendt, Maureen Holvoet, Reinhilde Thoelen, K. Verhofstadt, Jean-Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 218 KB

english, 2002

8

Partial DiGeorge syndrome in two patients with a 10p rearrangement

Hilde Van Esch, Peter Groenen, Sarah Daw, Ann Poffyn, Maureen Holvoet, Peter Scambler, Jean-Pierre Fryns, Wim Van de Ven, Koen Devriendt

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 364 KB

english, 1999

9

Deletion in chromosome region 22q11 in a child with CHARGE association

Koen Devriendt, Ann Swillen, Jean-Pierre Fryns

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.38 MB

english, 1998

10

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

11

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

12

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

13

De ontwikkeling en validering van een transferdocument voor de zorgoverdracht tussen de residentiële en de acute zorgsector: een voorbeeld uit de regio Leuven, Vlaams Brabant

Wils, Maartje, Devriendt, Els, Milisen, Koen, Flamaing, Johan

Journal:

Tijdschrift voor Gerontologie en Geriatrie

Year:

2015

File:

PDF, 376 KB

2015

14

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Mlynarski, Elisabeth E., Xie, Michael, Taylor, Deanne, Sheridan, Molly B., Guo, Tingwei, Racedo, Silvia E., McDonald-McGinn, Donna M., Chow, Eva W. C., Vorstman, Jacob, Swillen, Ann, Devriendt, Koen,

Journal:

Year:

2016

Language:

english

File:

PDF, 924 KB

english, 2016

15

Novel TBX5 Mutations in Patients with Holt-Oram Syndrome

Debeer, Philippe, Race, Valerie, Gewillig, Marc, Devriendt, Koen, Frijns, Jean-Pierre

Journal:

Clinical Orthopaedics and Related Research®

Year:

2007

Language:

english

File:

PDF, 244 KB

english, 2007

16

Unplanned readmission prevention by a geriatric emergency network for transitional care (URGENT): a prospective before-after study

Heeren, Pieter, Devriendt, Els, Fieuws, Steffen, Wellens, Nathalie I. H., Deschodt, Mieke, Flamaing, Johan, Sabbe, Marc, Milisen, Koen

Journal:

Year:

2019

Language:

english

File:

PDF, 1.14 MB

english, 2019

17

The prenatal diagnosis of spinal muscular atrophy

Gert Matthijs, Koen Devriendt, Jean-Pierre Fryns

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 67 KB

english, 1998

18

Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: A new constellation or deletion in chromosome 22q11.2?

Koen Devriendt, Ann Swillen, Ingeborg Stalmans, Ingele Casteels

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 52 KB

english, 2005

19

Characteristics of older adults admitted to the emergency department (ED) and their risk factors for ED readmission based on comprehensive geriatric assessment: a prospective cohort study

Deschodt, Mieke, Devriendt, Els, Sabbe, Marc, Knockaert, Daniel, Deboutte, Peter, Boonen, Steven, Flamaing, Johan, Milisen, Koen

Journal:

Year:

2015

Language:

english

File:

PDF, 611 KB

english, 2015

20

Congenital sternoclavicular dermoid sinus

Willaert, Annelore, Bruninx, Liesje, Hens, Greet, Hauben, Esther, Devriendt, Koen, Vander Poorten, Vincent

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2016

Language:

english

File:

PDF, 434 KB

english, 2016

21

The impact of frailty on postoperative outcomes in individuals aged 65 and over undergoing elective surgery for colorectal cancer: A systematic review

Fagard, Katleen, Leonard, Silke, Deschodt, Mieke, Devriendt, Els, Wolthuis, Albert, Prenen, Hans, Flamaing, Johan, Milisen, Koen, Wildiers, Hans, Kenis, Cindy

Journal:

Journal of Geriatric Oncology

Year:

2016

Language:

english

File:

PDF, 633 KB

english, 2016

22

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

Catherine Dodé, Corinne Fouveaut, Geert Mortier, Sandra Janssens, Jérôme Bertherat, Jacques Mahoudeau, Marie-Laure Kottler, Christine Chabrolle, Antoine Gancel, Inge François, Koen Devriendt, Slawomir

Journal:

Year:

2007

Language:

english

File:

PDF, 84 KB

english, 2007

23

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

24

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

25

Follow-up of an adult with Keutel syndrome

Devriendt, Koen, Holvoet, Maureen, Fryns, Jean-Pierre

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 109 KB

english, 1999

26

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

27

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

28

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

29

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

30

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

31

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

32

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

Van Damme, Tim, Colige, Alain, Syx, Delfien, Giunta, Cecilia, Lindert, Uschi, Rohrbach, Marianne, Aryani, Omid, Alanay, Yasemin, Simsek-Kiper, Pelin Özlem, Kroes, Hester Y., Devriendt, Koen, Thiry, Ma

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 1.87 MB

english, 2016

33

SPG20 mutation in three siblings with familial hereditary spastic paraplegia

Dardour, Leila, Roelens, Filip, Race, Valerie, Souche, Erika, Holvoet, Maureen, Devriendt, Koen

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 926 KB

english, 2017

34

Velocardiofacial Syndrome Patients with a Heterozygous Chromosome 22q11 Deletion Have Giant Platelets

Van Geet, Chris, Devriendt, Koen, Eyskens, Benedicte, Vermylen, Jos, Hoylaerts, Marc F

Journal:

Pediatric Research

Year:

1998

File:

PDF, 70 KB

1998

35

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction

Izzi, Benedetta, Francois, Inge, Labarque, Veerle, Thys, Chantal, Wittevrongel, Christine, Devriendt, Koen, Legius, Eric, Van den Bruel, Annick, D'Hooghe, Marc, Lambrechts, Diether, de Zegher, Francis

Journal:

Year:

2012

Language:

english

File:

PDF, 580 KB

english, 2012

36

Mosaic trisomy 8 as a cause of velopharyngeal insufficiency

Greet Vantrappen, Nathalie Rommel, Cor W.R.J. Cremers, Jean-Pierre Fryns, Koen Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 86 KB

english, 2002

37

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene

Suzanna G.M. Frints, Lin Jun, Jean-Pierre Fryns, Koen Devriendt, Rudi Teulingkx, Lut Van den Berghe, Bernice De Vos, Martine Borghgraef, Jamel Chelly, Vincent Des Portes, Hans Van Bokhoven, Ben Hamel,

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 209 KB

english, 2003

38

Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation

Ellen Denayer, Annabel Parret, Magdalena Chmara, Suzanne Schubbert, Annick Vogels, Koen Devriendt, Jean-Pierre Frijns, Vladimir Rybin, Thomy J. de Ravel, Kevin Shannon, Jan Cools, Klaus Scheffzek, Eri

Journal:

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

39

Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect

Ann Swillen, Hilde Feys, Tamara Adriaens, Loes Nelissen, Luc Mertens, Marc Gewillig, Koen Devriendt, Jean-Pierre Fryns

Journal:

Developmental Medicine & Child Neurology

Year:

2005

Language:

english

File:

PDF, 117 KB

english, 2005

40

Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

Vogels, Annick, Van Den Ende, Jenneke, Keymolen, Kathelijne, Mortier, Geert, Devriendt, Koen, Legius, E, Fryns, J P

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 75 KB

english, 2003

41

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

42

Familial deletions of chromosome 22q11: The Leuven experience

Swillen, Ann, Devriendt, Koen, Vantrappen, Greet, Vogels, Annick, Rommel, Nathalie, Fryns, Jean-Pierre, Eyskens, Benedicte, Gewillig, Marc, Dumoulin, Monique

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 30 KB

english, 1998

43

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity

Philip B. Daniel, Tim Morgan, Yasemin Alanay, Emilia Bijlsma, Tae-Joon Cho, Trevor Cole, Felicity Collins, Albert David, Koen Devriendt, Laurence Faivre, Shiro Ikegawa, Sebastien Jacquemont, Milos Jes

Journal:

Year:

2012

Language:

english

File:

PDF, 399 KB

english, 2012

44

Editorial

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 63 KB

english, 2005

45

Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?

Goossens, Linde, Janssens, Sandra, Meersschaut, Valerie, Peeters, Hilde, Devlieger, Hugo, Devriendt, Koen

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 327 KB

english, 2006

46

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

47

Second trimester miscarriage of a male fetus with incontinentia pigmenti

Devriendt, Koen, Matthijs, Gert, Fryns, Jean-Pierre, Ballegeer, Veronique

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 240 KB

english, 1998

48

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Kantarci, Sibel, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Black, Graeme C M, Bieth, Eric, Chassaing, Nicolas, Lacombe, Didier, Devriendt, Koen, Teebi, Ahmad

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 236 KB

english, 2007

49

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

50

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

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