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1

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

2

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

3

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

4

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

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

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

8

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

9

Heterogeneity in Omphalocoele With Absent Radial Ray Complex

Devriendt, Koen, Fryns, Jean-Pierre, Moerman, Philippe, Vanhole, Christine, Devlieger, Hugo

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 202 KB

english, 1999

10

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

11

Neuroblastoma in a mother and congenital central hypoventilation in her daughter: Variable expression of the same genetic disorder?

Devriendt, Koen, Fryns, Jean-Pierre, Naulaers, Gunnar, Devlieger, Hugo, Alliet, Philippe

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

12

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

13

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

14

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

15

Somatic mosaicism and variable expression of Townes-Brocks syndrome

Koen Devriendt, Jean-Pierre Fryns, Francis Lemmens, Jürgen Kohlhase, Manuela Liebers

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 100 KB

english, 2002

16

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

17

Multiple circumferential skin creases: Another sign of genetic mosaicism?

Koen Devriendt, J.P. Fryns, C. Vanhole, G. Bogaert

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 75 KB

english, 2004

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

Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation

Philippe Debeer, Christel Huysmans, Wim J.M. Van de Ven, Jean-Pierre Fryns, Koen Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 172 KB

english, 2005

20

A microduplication of CBP in a patient with mental retardation and a congenital heart defect

Bernard Thienpont, Jeroen Breckpot, Maureen Holvoet, Joris R. Vermeesch, Koen Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 219 KB

english, 2007

21

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

Liesbeth Backx, Jean-Pierre Fryns, Carlo Marcelis, Koen Devriendt, Joris Vermeesch, Hilde Van Esch

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 189 KB

english, 2010

22

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2

An Crepel, Jean Steyaert, Wouter De la Marche, Veerle De Wolf, Jean-Pierre Fryns, Ilse Noens, Koen Devriendt, Hilde Peeters

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 83 KB

english, 2011

23

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations

Ellen Denayer, Koen Devriendt, Thomy de Ravel, Griet Van Buggenhout, Eric Smeets, Inge Francois, Yves Sznajer, Margarita Craen, George Leventopoulos, Léon Mutesa, Willy Vandecasseye, Guy Massa, Hulya

Journal:

Genes, Chromosomes and Cancer

Year:

2010

Language:

english

File:

PDF, 185 KB

english, 2010

24

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

25

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

26

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Br

Journal:

Year:

2011

Language:

english

File:

PDF, 611 KB

english, 2011

27

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

28

Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 Gene

Ilse Gutierrez-Roelens, Thierry Sluysmans, Marc Gewillig, Koen Devriendt, Miikka Vikkula

Journal:

Year:

2002

Language:

english

File:

PDF, 569 KB

english, 2002

29

Human piebaldism: six novel mutations of the proto-oncogene KIT

Petros Syrris, Kirsten Heathcote, Romeo Carrozzo, Koen Devriendt, Nursel Elçioglu, Christine Garrett, Meriel McEntagart, Nicholas D. Carter

Journal:

Year:

2002

Language:

english

File:

PDF, 127 KB

english, 2002

30

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

31

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

32

Semilobar holoprosencephaly in a 46,XY female fetus

Ingrid Witters, Philippe Moerman, Maximilian Muenke, Frans-André Van Assche, Koen Devriendt, Eric Legius, Dominique Van Schoubroeck, Jean-Pierre Fryns

Journal:

Prenatal Diagnosis

Year:

2001

Language:

english

File:

PDF, 86 KB

english, 2001

33

Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome

Ji Zhang, Peter Marynen, Koen Devriendt, Jean-Pierre Fryns, Herman Berghe, Jean-Jacques Cassiman

Journal:

Year:

1989

Language:

english

File:

PDF, 1.22 MB

english, 1989

34

Velocardiofacial syndrome presenting as distal arthrogryposis

Koen Devriendt, Ann Swillen, Marc Gewillig, Jean-Pierre Fryns, Pierre Moens, Luc Smet

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 219 KB

english, 2004

35

Diagnostic evaluation for asymmetry: consider genetic mosaicism

Koen Devriendt, Jean-Pierre Fryns

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 162 KB

english, 2004

36

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant

Lieve Sevenants, Carine Wouters, Annachiara De Sandre-Giovannoli, Hugo Devlieger, Koen Devriendt, Joost J. van den Oord, Karel Marien, Nicolas Lévy, Marie-Anne Morren

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 352 KB

english, 2005

37

What’s new in karyotyping? The move towards array comparative genomic hybridisation (CGH)

Thomy J. L. de Ravel, Koen Devriendt, Jean-Pierre Fryns, Joris R. Vermeesch

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 301 KB

english, 2007

38

Hydrops fetalis and pulmonary lymphangiectasia due toFOXC2mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression

Gwendolyn de Bruyn, Alexandra Casaer, Katrien Devolder, Geert Van Acker, Hilde Logghe, Koen Devriendt, Luc Cornette

Journal:

European Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 304 KB

english, 2012

39

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

Zsolt Urbán, Virginia V. Michels, Stephen N. Thibodeau, Elaine C. Davis, Jean-Paul Bonnefont, Arnold Munnich, Benedicte Eyskens, Marc Gewillig, Koen Devriendt, Charles D. Boyd

Journal:

Year:

2000

Language:

english

File:

PDF, 276 KB

english, 2000

40

Interstitial telomeric sequences at the junction site of a jumping translocation

Joris Robert Vermeesch, Paul Petit, Frank Speleman, Koen Devriendt, Jean-Pierre Fryns, P. Marynen

Journal:

Year:

1997

Language:

english

File:

PDF, 244 KB

english, 1997

41

Identification of novelDKC1mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

Stuart Knight, Tom Vulliamy, Ben Morgan, Koen Devriendt, Philip Mason, Inderjeet Dokal

Journal:

Year:

2001

Language:

english

File:

PDF, 66 KB

english, 2001

42

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

Philippe Debeer, Koen Devriendt, Luc De Smet, Thomy deRavel, Antonio Gonzalez-Meneses, Karl-Heinz Grzeschik, Jean-Pierre Fryns

Journal:

Journal of Children's Orthopaedics

Year:

2007

Language:

english

File:

PDF, 339 KB

english, 2007

43

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

44

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

45

Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome)

Katrijn Van Aken, Bert De Smedt, Annelies Van Roie, Marc Gewillig, Koen Devriendt, Jean-Pierre Fryns, Johan Simons, Ann Swillen

Journal:

Developmental Medicine & Child Neurology

Year:

2007

Language:

english

File:

PDF, 97 KB

english, 2007

46

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

Backx, Liesbeth, Ceulemans, Berten, Vermeesch, Joris Robert, Devriendt, Koen, Van Esch, Hilde

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 241 KB

english, 2008

47

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

Castermans, Dries, Thienpont, Bernard, Volders, Karolien, Crepel, An, Vermeesch, Joris R, Schrander-Stumpel, Connie T, Van de Ven, Wim J M, Steyaert, Jean G, Creemers, John W M, Devriendt, Koen

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 266 KB

english, 2008

48

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)

Schwinger, Eberhard, Devriendt, Koen, Rauch, Anita, Philip, Nicole

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 149 KB

english, 2010

49

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

50

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