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1

Elements of morphology: Standard terminology for the lips, mouth, and oral region

John C. Carey, M. Michael Cohen Jr., Cynthia J.R. Curry, Koenraad Devriendt, Lewis B. Holmes, Alain Verloes

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 744 KB

english, 2009

2

Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia

Chih-Ping Chen, Koenraad Devriendt, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang, Tao-Yeuan Wang

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 228 KB

english, 1999

3

High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations

Irina Balikova, Thomy de Ravel, Carmen Ayuso, Bernard Thienpont, Ingele Casteels, Cristina Villaverde, Koenraad Devriendt, Jean-Pierre Fryns, Joris Robert Vermeesch

Journal:

American Journal of Ophthalmology

Year:

2011

Language:

english

File:

PDF, 2.92 MB

english, 2011

4

Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt, Isabelle Meyts

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 500 KB

english, 2010

5

Platelet studies in autism spectrum disorder patients and first-degree relatives

Bijl, Nora, Thys, Chantal, Wittevrongel, Christine, De la Marche, Wouter, Devriendt, Koenraad, Peeters, Hilde, Van Geet, Chris, Freson, Kathleen

Journal:

Molecular Autism

Year:

2015

Language:

english

File:

PDF, 2.53 MB

english, 2015

6

ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder

Cosemans, Nele, Vandenhove, Laura, Maljaars, Jarymke, Van Esch, Hilde, Devriendt, Koenraad, Baldwin, Amanda, Fryns, Jean-Pierre, Noens, Ilse, Peeters, Hilde

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.93 MB

english, 2018

7

Non-syndromic cleft lip and/or cleft palate: Epidemiology and risk factors in Lubumbashi (DR Congo), a case-control study

Mbuyi-musanzayi, Sébastien, Kayembe, Tony J., Kashal, Marc K., Lukusa, Prosper T., Kalenga, Prosper M., Tshilombo, François K., Devriendt, Koenraad, Reychler, Hervé

Journal:

Journal of Cranio-Maxillofacial Surgery

Year:

2018

Language:

english

File:

PDF, 678 KB

english, 2018

8

First trimester cystic hygroma colli: retrospective analysis in a tertiary center

Schreurs, Lore, Lannoo, Lore, De Catte, Luc, Van Schoubroeck, Dominique, Devriendt, Koenraad, Richter, Jute

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2018

Language:

english

File:

PDF, 555 KB

english, 2018

9

Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities

Devriendt, Koenraad, van den Oord, Joost, De Vos, Rita, Van den Berghe, Herman, Fryns, Jean-Pierre

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 612 KB

1996

10

Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: A new syndrome?

Devriendt, Koenraad, Legius, Eric, Fryns, Jean Pierre

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 407 KB

english, 1996

11

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8

Claeys, Ingrid, Holvoet, Maureen, Eyskens, Benedicte, Adriaensens, Peter, Gewillig, Marc, Fryns, Jean-Pierre, Devriendt, Koenraad

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 260 KB

english, 1997

12

Precocious puberty in Klinefelter syndrome: Non-specific result of neurological deficit?

Fryns, Jean-Pierre, Devriendt, Koenraad

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 12 KB

english, 1997

13

Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1

Claes, Stephan, Volcke, Philippe, Devriendt, Koenraad, Holvoet, Maureen, Raeymaekers, Peter, Cassiman, Jean-Jacques, Fryns, Jean-Pierre

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 121 KB

english, 1999

14

ELEVATED MATERNAL SERUM AND AMNIOTIC FLUID ALPHA-FETOPROTEIN LEVELS IN THE DENYS–DRASH SYNDROME

KOENRAAD DEVRIENDT, KAMIEL VAN DEN BERGHE, PHILIPPE MOERMAN, JEAN-PIERRE FRYNS

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 237 KB

english, 1996

15

Polyhydramnios as a prenatal symptom of the DiGeorge/velo-cardio-facial syndrome

Koenraad Devriendt, Dominique Van Schoubroeck, Benedicte Eyskens, Greet Vantrappen, Ann Swillen, Marc Gewillig, Monique Dumoulin, Philippe Moerman, Kamiel Vandenberghe, Jean-Pierre Fryns

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

16

Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect

Koenraad Devriendt, Dominique Van Schoubroeck, Benedicte Eyskens, Marc Gewillig, Kamiel Vandenberghe, Jean-Pierre Fryns

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 31 KB

english, 1998

17

Prenatal diagnosis of inherited satellited non-acrocentric chromosomes

Chih-Ping Chen, Koenraad Devriendt, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang, Shuan-Pei Lin

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 186 KB

english, 2000

18

Diaphragmatic hernia as the first echographic sign in Apert syndrome

Ingrid Witters, Koenraad Devriendt, Philippe Moerman, Chris van Hole, Jean-Pierre Fryns

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 180 KB

english, 2000

19

Diaphragmatic hernia in Denys-Drash syndrome

Dr. Koenraad Devriendt, Els Deloof, Philippe Moerman, Eric Legius, Chris Vanhole, Francis De Zegher, Willem Proesmans, Hugo Devlieger

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 647 KB

english, 1995

20

Genetic locus on chromosome 6p for multicystic renal dysplasia, pelvi-ureteral junction stenosis, and vesicoureteral reflux

Koenraad Devriendt, Jean-Pierre Fryns

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 139 KB

english, 1995

21

Velo-facio-skeletal syndrome versus Aarskog syndrome

Jean Pierre Fryns, Koenraad Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

1996

Language:

english

File:

PDF, 81 KB

english, 1996

22

Large congenital follicular ovarian cyst in a girl with Kabuki syndrome

Koenraad Devriendt, Herman Van Den Berghe, Jean Pierre Fryns, Patrick Van Reempst

Journal:

American Journal of Medical Genetics Part A

Year:

1996

Language:

english

File:

PDF, 147 KB

english, 1996

23

Middle and inner ear malformations in velocardiofacial syndrome

Koenraad Devriendt, Ann Swillen, Isabelle Schatteman, Marc Lemmerling, Ingeborg Dhooge

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 54 KB

english, 2004

24

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

Marja Majava, Kristien P. Hoornaert, Deborah Bartholdi, Mieke C. Bouma, Katelijne Bouman, Marta Carrera, Koenraad Devriendt, Jane Hurst, George Kitsos, Dunja Niedrist, Michael B. Petersen, Debbie Shea

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 260 KB

english, 2007

25

Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype

Ingrid Van de Laar, Dennis Dooijes, Lies Hoefsloot, Marleen Simon, Jeanette Hoogeboom, Koenraad Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 137 KB

english, 2007

26

A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

Gülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, Yasemin Alanay, Cemalettin Aksoy, Koray Boduroğlu, Koenraad Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

27

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

28

Clinical and molecular genetic features of congenital spinal muscular atrophy

Koenraad Devriendt, Els Schollen, Jean-Jacques Cassiman, Jean-Pierre Fryns, Gert Matthijs, Martin Lammens, Chris van Hole, Hugo Devlieger, René Dom

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 938 KB

english, 1996

29

Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome

Wiktor Borozdin, Katharina Steinmann, Beate Albrecht, Armand Bottani, Koenraad Devriendt, Michael Leipoldt, Jürgen Kohlhase

Journal:

Year:

2006

Language:

english

File:

PDF, 357 KB

english, 2006

30

The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal 6q/9p translocation

Koenraad Devriendt, Maureen Holvoet, Alain De Mûelenaere, Jean-Pierre Fryns

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 205 KB

english, 2000

31

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

Kasemsri Srisupundit, Paul D. Brady, Koenraad Devriendt, Jean-Pierre Fryns, Rogelio Cruz-Martinez, Eduard Gratacos, Jan A. Deprest, Joris R. Vermeesch

Journal:

Prenatal Diagnosis

Year:

2010

Language:

english

File:

PDF, 278 KB

english, 2010

32

Ocular findings in children with a microdeletion in chromosome 22q11.2

Ingele Casteels, Patricia Casaer, Marc Gewillig, Ann Swillen, Koenraad Devriendt

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 94 KB

english, 2008

33

X-linked adrenal hypoplasia congenita: a novelDAX1missense mutation and challenges for clinical diagnosis in Africa

Aimé Lumaka, Gerrye Mubungu, Celestin Nsibu, Bruno-Paul Tady, Tshilobo Lukusa, Koenraad Devriendt

Journal:

European Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 130 KB

english, 2012

34

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion

Morten Dunø, Hanne Hove, Maria Kirchhoff, Koenraad Devriendt, Marianne Schwartz

Journal:

Year:

2004

Language:

english

File:

PDF, 386 KB

english, 2004

35

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies

Stephan Claes, Koenraad Devriendt, Patrizia D'Adamo, Jan Meireleire, Peter Raeymaekers, Daniela Toniolo, Jean-Jacques Cassiman, Jean-Pierre Fryns

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 1.40 MB

english, 1997

36

10.1038/85886

Devriendt, Koenraad, Kim, Annette S., Mathijs, Gert, Frints, Suzanna G.M., Schwartz, Marianne, Van den Oord, Joost J., Verhoef, Gregor E.G., Boogaerts, Marc A., Fryns, Jean-Pierre, You, Daoqi, Rosen,

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 352 KB

english, 2001

37

A novel genomic disorder: a deletion of the SACS gene leading to Spastic Ataxia of Charlevoix–Saguenay

Breckpot, Jeroen, Takiyama, Yoshihisa, Thienpont, Bernard, Van Vooren, Steven, Vermeesch, Joris Robert, Ortibus, Els, Devriendt, Koenraad

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 162 KB

english, 2008

38

The causality of de novo copy number variants is overestimated

Vermeesch, Joris R, Balikova, Irina, Schrander-Stumpel, Connie, Fryns, Jean-Pierre, Devriendt, Koenraad

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 120 KB

english, 2011

39

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

40

A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome

Femke Hannes, Peter Hammond, Oliver Quarrell, Jean-Pierre Fryns, Koenraad Devriendt, Joris R. Vermeesch

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 861 KB

english, 2012

41

Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema

Jacoba J Louw, Geert Verleden, Marc Gewillig, Koenraad Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

42

Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism

Koenraad Devriendt, Herman Van den Berghe, Jean-Pierre Fryns

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.19 MB

english, 1996

43

Cerebellar Hypoplasia in a Patient with Velo-Cardio-Facial Syndrome

Koenraad Devriendt, Marie-Noëlle Van Thienen, Ann Swillen, Jean-Pierre Fryns

Journal:

Developmental Medicine & Child Neurology

Year:

1996

Language:

english

File:

PDF, 505 KB

english, 1996

44

Atypical findings in three patients with Pai syndrome and literature review

Damien Lederer, Brian Wilson, Pierre Lefesvre, Vincent Vander Poorten, Nigel Kirkham, Dipayan Mitra, Christine Verellen-Dumoulin, Koenraad Devriendt

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 212 KB

english, 2012

45

Why genomics shouldn't get too personal: In favor of filters : Re: Invited Comment by Holly K. Tabor et al. in American Journal of Medical Genetics Part A Volume 155

Gabrielle M. Christenhusz, Koenraad Devriendt, Joris Vermeesch, Kris Dierickx

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

46

Rearrangement of the HumanCDC5LGene by a t(6;19)(p21;q13.1) in a Patient with Multicystic Renal Dysplasia

Peter M.A. Groenen, Gert Vanderlinden, Koenraad Devriendt, Jean-Pierre Fryns, Wim J.M. Van de Ven

Journal:

Year:

1998

Language:

english

File:

PDF, 813 KB

english, 1998

47

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

Hilde Van Esch, Ginevra Zanni, Maureen Holvoet, Martine Borghgraef, Jamel Chelly, Jean-Pierre Fryns, Koenraad Devriendt

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 262 KB

english, 2005

48

Medical Genetics for the MRCOG and Beyond. J. Michael Connor. ISBD 1-900364-99-9 104 pages 2005. £ 26.00.

Koenraad Devriendt

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 63 KB

english, 2006

49

Announcing “chromosomal imbalance letter”

Koenraad Devriendt

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 80 KB

english, 2005

50

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