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Koen Devriendt

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Chromosomes, Human, Pair 22

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Thienpont Bernard; Dimitriadou Eftychia; Theodoropoulos Katerina; Breckpot Jeroen; Fryssira Helen; Kitsiou-Tzeli Sophia; Tzoufi Meropi; Vermeesch Joris R; Syrrou Maria; Devriendt Koen
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.
Breckpot Jeroen; Thienpont Bernard; Vanhole Christine; Van Rossem Els; Van Schoubroeck Dominique; Fryns Jean-Pierre; Lagae Lieven; Buyse Gunnar; Devriendt Koen
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
Hannes F D; Sharp A J; Mefford H C; de Ravel T; Ruivenkamp C A; Breuning M H; Fryns J-P; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam R C; Cooper G M; Regan R; Knight S J L; Eichler E E; Vermeesch J R
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

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All Publications

2009: Thienpont Bernard; Dimitriadou Eftychia; Theodoropoulos Katerina; Breckpot Jeroen; Fryssira Helen; Kitsiou-Tzeli Sophia; Tzoufi Meropi; Vermeesch Joris R; Syrrou Maria; Devriendt Koen
Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.
European journal of medical genetics 2009;52(6):393-7.
2009: Breckpot Jeroen; Thienpont Bernard; Vanhole Christine; Van Rossem Els; Van Schoubroeck Dominique; Fryns Jean-Pierre; Lagae Lieven; Buyse Gunnar; Devriendt Koen
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
Clinical dysmorphology 2009;18(4):195-200.
2009: Hannes F D; Sharp A J; Mefford H C; de Ravel T; Ruivenkamp C A; Breuning M H; Fryns J-P; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam R C; Cooper G M; Regan R; Knight S J L; Eichler E E; Vermeesch J R
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Journal of medical genetics 2009;46(4):223-32.
2009: Backx Liesbeth; Ceulemans Berten; Vermeesch Joris Robert; Devriendt Koen; Van Esch Hilde
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.
European journal of human genetics : EJHG 2009;17(3):378-82.
2008: Castermans Dries; Thienpont Bernard; Volders Karolien; Crepel An; Vermeesch Joris R; Schrander-Stumpel Connie T; Van de Ven Wim Jm; Steyaert Jean G; Creemers John Wm; Devriendt Koen
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
European journal of human genetics : EJHG 2008;16(10):1187-92.
2008: Breckpot Jeroen; Takiyama Yoshihisa; Thienpont Bernard; Van Vooren Steven; Vermeesch Joris Robert; Ortibus Els; Devriendt Koenraad
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
European journal of human genetics : EJHG 2008;16(9):1050-4.
2008: Thienpont Bernard; Breckpot Jeroen; Vermeesch Joris R; Gewillig Marc; Devriendt Koen
A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications.
European journal of medical genetics 2008;51(3):219-25.
2008: Denayer Ellen; Parret Annabel; Chmara Magdalena; Schubbert Suzanne; Vogels Annick; Devriendt Koen; Frijns Jean-Pierre; Rybin Vladimir; de Ravel Thomy J; Shannon Kevin; Cools Jan; Scheffzek Klaus; Legius Eric
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
Human mutation 2008;29(2):232-9.
2008: Maas N M C; Van Buggenhout G; Hannes F; Thienpont B; Sanlaville D; Kok K; Midro A; Andrieux J; Anderlid B-M; Schoumans J; Hordijk R; Devriendt K; Fryns J-P; Vermeesch J R
Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).
Journal of medical genetics 2008;45(2):71-80.
2008: Balikova Irina; Martens Kevin; Melotte Cindy; Amyere Mustapha; Van Vooren Steven; Moreau Yves; Vetrie David; Fiegler Heike; Carter Nigel P; Liehr Thomas; Vikkula Miikka; Matthijs Gert; Fryns Jean-Pierre; Casteels Ingele; Devriendt Koen; Vermeesch Joris Robert
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
American journal of human genetics 2008;82(1):181-7.
2008: Callewaert B L; Willaert A; Kerstjens-Frederikse W S; De Backer J; Devriendt K; Albrecht B; Ramos-Arroyo M A; Doco-Fenzy M; Hennekam R C M; Pyeritz R E; Krogmann O N; Gillessen-kaesbach G; Wakeling E L; Nik-zainal S; Francannet C; Mauran P; Booth C; Barrow M; Dekens R; Loeys B L; Coucke P J; De Paepe A M
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Human mutation 2008;29(1):150-8.
2008: De Smedt B; Swillen A; Devriendt K; Fryns J P; Verschaffel L; Boets B; Ghesquière P
Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2008;19(1):71-94.
2007: Van de Laar Ingrid; Dooijes Dennis; Hoefsloot Lies; Simon Marleen; Hoogeboom Jeanette; Devriendt Koenraad
Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.
American journal of medical genetics. Part A 2007;143A(22):2712-5.
2007: Vermeesch Joris Robert; Fiegler Heike; de Leeuw Nicole; Szuhai Karoly; Schoumans Jacqueline; Ciccone Roberto; Speleman Frank; Rauch Anita; Clayton-Smith Jill; Van Ravenswaaij Conny; Sanlaville Damien; Patsalis Philippos C; Firth Helen; Devriendt Koen; Zuffardi Orsetta
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
European journal of human genetics : EJHG 2007;15(11):1105-14.
2007: Thienpont Bernard; Mertens Luc; de Ravel Thomy; Eyskens Benedicte; Boshoff Derize; Maas Nicole; Fryns Jean-Pierre; Gewillig Marc; Vermeesch Joris R; Devriendt Koen
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.
European heart journal 2007;28(22):2778-84.
2007: Thienpont Bernard; de Ravel Thomy; Van Esch Hilde; Van Schoubroeck Dominique; Moerman Philippe; Vermeesch Joris Robert; Fryns Jean-Pierre; Froyen Guy; Lacoste Caroline; Badens Catherine; Devriendt Koen
Partial duplications of the ATRX gene cause the ATR-X syndrome.
European journal of human genetics : EJHG 2007;15(10):1094-7.
2007: Froyen Guy; Van Esch Hilde; Bauters Marijke; Hollanders Karen; Frints Suzanna G M; Vermeesch Joris R; Devriendt Koen; Fryns Jean-Pierre; Marynen Peter
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.
Human mutation 2007;28(10):1034-42.
2007: Balikova Irina; Menten Björn; de Ravel Thomy; Le Caignec Cédric; Thienpont Bernard; Urbina Montse; Doco-Fenzy Martine; de Rademaeker Marjan; Mortier Geert; Kooy Frank; van den Ende Janneke; Devriendt Koen; Fryns Jean-Pierre; Speleman Frank; Vermeesch Joris Robert
Subtelomeric imbalances in phenotypically normal individuals.
Human mutation 2007;28(10):958-67.
2007: De Smedt B; Devriendt K; Fryns J-P; Vogels A; Gewillig M; Swillen A
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update.
Journal of intellectual disability research : JIDR 2007;51(Pt 9):666-70.
2007: Thienpont Bernard; Breckpot Jeroen; Holvoet Maureen; Vermeesch Joris R; Devriendt Koen
A microduplication of CBP in a patient with mental retardation and a congenital heart defect.
American journal of medical genetics. Part A 2007;143A(18):2160-4.
2007: Maas Nicole M C; Van de Putte Tom; Melotte Cindy; Francis Annick; Schrander-Stumpel Constance T R M; Sanlaville Damien; Genevieve David; Lyonnet Stanislas; Dimitrov Boyan; Devriendt Koenraad; Fryns Jean-Pierre; Vermeesch Joris R
The C20orf133 gene is disrupted in a patient with Kabuki syndrome.
Journal of medical genetics 2007;44(9):562-9.
2007: Debeer Philippe; Race Valerie; Gewillig Marc; Devriendt Koen; Frijns Jean-Pierre
Novel TBX5 mutations in patients with Holt-Oram syndrome.
Clinical orthopaedics and related research 2007;462():20-6.
2007: Kantarci Sibel; Al-Gazali Lihadh; Hill R Sean; Donnai Dian; Black Graeme C M; Bieth Eric; Chassaing Nicolas; Lacombe Didier; Devriendt Koen; Teebi Ahmad; Loscertales Maria; Robson Caroline; Liu Tianming; MacLaughlin David T; Noonan Kristin M; Russell Meaghan K; Walsh Christopher A; Donahoe Patricia K; Pober Barbara R
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nature genetics 2007;39(8):957-9.
2007: de Ravel Thomy J L; Devriendt Koen; Fryns Jean-Pierre; Vermeesch Joris R
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).
European journal of pediatrics 2007;166(7):637-43.
2007: Lu Weining; Quintero-Rivera Fabiola; Fan Yanli; Alkuraya Fowzan S; Donovan Diana J; Xi Qiongchao; Turbe-Doan Annick; Li Qing-Gang; Campbell Craig G; Shanske Alan L; Sherr Elliott H; Ahmad Ayesha; Peters Roxana; Rilliet Benedict; Parvex Paloma; Bassuk Alexander G; Harris David J; Ferguson Heather; Kelly Chantal; Walsh Christopher A; Gronostajski Richard M; Devriendt Koenraad; Higgins Anne; Ligon Azra H; Quade Bradley J; Morton Cynthia C; Gusella James F; Maas Richard L
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PLoS genetics 2007;3(5):e80.
2007: Zweier Christiane; Peippo Maarit M; Hoyer Juliane; Sousa Sergio; Bottani Armand; Clayton-Smith Jill; Reardon William; Saraiva Jorge; Cabral Alexandra; Gohring Ina; Devriendt Koen; de Ravel Thomy; Bijlsma Emilia K; Hennekam Raoul C M; Orrico Alfredo; Cohen Monika; Dreweke Alexander; Reis Andre; Nurnberg Peter; Rauch Anita
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
American journal of human genetics 2007;80(5):994-1001.
2007: Thienpont Bernard; Mertens Luc; Buyse Gunnar; Vermeesch Joris R; Devriendt Koen
Left-ventricular non-compaction in a patient with monosomy 1p36.
European journal of medical genetics 2007;50(3):233-6.
2007: Castermans Dries; Vermeesch Joris R; Fryns Jean-Pierre; Steyaert Jean G; Van de Ven Wim J M; Creemers John W M; Devriendt Koen
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
European journal of human genetics : EJHG 2007;15(4):422-31.
2007: Van Aken Katrijn; De Smedt Bert; Van Roie Annelies; Gewillig Marc; Devriendt Koen; Fryns Jean-Pierre; Simons Johan; Swillen Ann
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).
Developmental medicine and child neurology 2007;49(3):210-3.
2007: De Smedt B; Swillen A; Devriendt K; Fryns J P; Verschaffel L; Ghesquière P
Mathematical disabilities in children with velo-cardio-facial syndrome.
Neuropsychologia 2007;45(5):885-95.
2007: Majava Marja; Hoornaert Kristien P; Bartholdi Deborah; Bouma Mieke C; Bouman Katelijne; Carrera Marta; Devriendt Koenraad; Hurst Jane; Kitsos George; Niedrist Dunja; Petersen Michael B; Shears Debbie; Stolte-Dijkstra Irene; Van Hagen J M; Ala-Kokko Leena; Männikkö Minna; Mortier Geert R
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
American journal of medical genetics. Part A 2007;143(3):258-64.
2007: Dodé Catherine; Fouveaut Corinne; Mortier Geert; Janssens Sandra; Bertherat Jérôme; Mahoudeau Jacques; Kottler Marie-Laure; Chabrolle Christine; Gancel Antoine; François Inge; Devriendt Koen; Wolczynski Slawomir; Pugeat Michel; Pineiro-Garcia Alfons; Murat Arnaud; Bouchard Philippe; Young Jacques; Delpech Marc; Hardelin Jean-Pierre
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.
Human mutation 2007;28(1):97-8.
2007: Maas N M C; Van Vooren S; Hannes F; Van Buggenhout G; Mysliwiec M; Moreau Y; Fagan K; Midro A; Engiz O; Balci S; Parker M J; Sznajer Y; Devriendt K; Fryns J P; Vermeesch J R
The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.
Genetic counseling (Geneva, Switzerland) 2007;18(4):357-65.
2006: Gutierrez-Roelens Ilse; De Roy Luc; Ovaert Caroline; Sluysmans Thierry; Devriendt Koen; Brunner Han G; Vikkula Miikka
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
European journal of human genetics : EJHG 2006;14(12):1313-6.
2006: Peeters Hilde; Voz Marianne L; Verschueren Kristin; De Cat Bart; Pendeville Hélène; Thienpont Bernard; Schellens Ann; Belmont John W; David Guido; Van De Ven Wim J M; Fryns Jean-Pierre; Gewillig Marc; Huylebroeck Danny; Peers Bernard; Devriendt Koen
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling.
Human molecular genetics 2006;15(22):3369-77.
2006: Peeters Hilde; Devriendt Koen
Human laterality disorders.
European journal of medical genetics 2006;49(5):349-62.
2006: Menten B; Maas N; Thienpont B; Buysse K; Vandesompele J; Melotte C; de Ravel T; Van Vooren S; Balikova I; Backx L; Janssens S; De Paepe A; De Moor B; Moreau Y; Marynen P; Fryns J-P; Mortier G; Devriendt K; Speleman F; Vermeesch J R
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
Journal of medical genetics 2006;43(8):625-33.
2006: Thienpont Bernard; Vermeesch Joris; Devriendt Koen
Anterior cervical hypertrichosis and mental retardation.
Clinical dysmorphology 2006;15(3):189-90.
2006: Moog Ute; Van Roozendaal Kees; Smeets Eric; Tserpelis Demis; Devriendt Koen; Buggenhout Griet Van; Frijns Jean-Pierre; Schrander-Stumpel Connie
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
Brain & development 2006;28(5):305-10.
2006: Goossens Linde; Janssens Sandra; Meersschaut Valerie; Peeters Hilde; Devlieger Hugo; Devriendt Koen
Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?
Clinical dysmorphology 2006;15(2):71-4.
2006: Prescott Trine; Devriendt Koen; Hamel Ben; Pasch Marcel C; Peeters Hilde; Vander Poorten Vincent; Tallerås Ola
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.
European journal of medical genetics 2006;49(2):135-9.
2006: Borozdin Wiktor; Steinmann Katharina; Albrecht Beate; Bottani Armand; Devriendt Koenraad; Leipoldt Michael; Kohlhase Jürgen
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.
Human mutation 2006;27(2):211-2.
2006: de Ravel T J L; Balikova I; Thienpont B; Hannes F; Maas N; Fryns J-P; Devriendt K; Vermeesch J R
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.
Cytogenetic and genome research 2006;115(3-4):225-30.
2006: De Smedt B; Swillen A; Devriendt K; Fryns J P; Verschaffel L; Ghesquiere P
Mathematical disabilities in young primary school children with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2006;17(3):259-80.
2006: Thienpont B; Gewillig M; Fryns J-P; Devriendt K; Vermeesch J
Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies.
Cytogenetic and genome research 2006;114(3-4):338-41.
2005: Swillen Ann; Feys Hilde; Adriaens Tamara; Nelissen Loes; Mertens Luc; Gewillig Marc; Devriendt Koen; Fryns Jean-Pierre
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.
Developmental medicine and child neurology 2005;47(12):797-802.
2005: Debeer Ph; Van Esch H; Huysmans C; Pijkels E; De Smet L; Van de Ven W; Devriendt K; Fryns J-P
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
European journal of medical genetics 2005;48(4):377-87.
2005: Debeer A; Steenkiste E; Devriendt K; Morren M
Scalp skin lesion in Turner syndrome: more than lymphoedema?
Clinical dysmorphology 2005;14(3):149-50.
2005: Van Esch Hilde; Hollanders Karen; Badisco Liesbeth; Melotte Cindy; Van Hummelen Paul; Vermeesch Joris Robert; Devriendt Koen; Fryns Jean-Pierre; Marynen Peter; Froyen Guy
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.
Human molecular genetics 2005;14(13):1795-803.
2005: Rossenbacker T; Schollen E; Kuipéri C; de Ravel T J L; Devriendt K; Matthijs G; Collen D; Heidbüchel H; Carmeliet P
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
Journal of medical genetics 2005;42(5):e29.
2005: Kamnasaran Deepak; Chen Chih-Ping; Devriendt Koenraad; Mehta Lakshmi; Cox Diane W
Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.
Genomics 2005;85(5):608-21.
2005: Sevenants Lieve; Wouters Carine; De Sandre-Giovannoli Annachiara; Devlieger Hugo; Devriendt Koen; van den Oord Joost J; Marien Karel; Lévy Nicolas; Morren Marie-Anne
Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.
European journal of pediatrics 2005;164(5):283-6.
2005: Van Esch Hilde; Zanni Ginevra; Holvoet Maureen; Borghgraef Martine; Chelly Jamel; Fryns Jean-Pierre; Devriendt Koenraad
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
European journal of medical genetics 2005;48(2):145-52.
2005: Debeer Philippe; Huysmans Christel; Van de Ven Wim J M; Fryns Jean-Pierre; Devriendt Koen
Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.
American journal of medical genetics. Part A 2005;134(3):318-20.
2005: Vermeesch Joris R; Melotte Cindy; Froyen Guy; Van Vooren Steven; Dutta Binita; Maas Nicole; Vermeulen Stefan; Menten Björn; Speleman Frank; De Moor Bart; Van Hummelen Paul; Marynen Peter; Fryns Jean-Pierre; Devriendt Koen
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2005;53(3):413-22.
2005: Rossenbacker Tom; Mubagwa Kanigula; Jongbloed Roselie J; Vereecke Johan; Devriendt Koen; Gewillig Marc; Carmeliet Edward; Collen Désiré; Heidbüchel Hein; Carmeliet Peter
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.
Circulation 2005;111(8):961-8.
2005: Devriendt Koen
Hydatidiform mole and triploidy: the role of genomic imprinting in placental development.
Human reproduction update 2005;11(2):137-42.
2005: Stiers Peter; Swillen Ann; De Smedt Bert; Lagae Lieven; Devriendt Koen; D'Agostino Emiliano; Sunaert Stefan; Fryns Andjean-Pierre
Atypical neuropsychological profile in a boy with 22q11.2 Deletion Syndrome.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2005;11(1):87-108.
2005: Devriendt Koen; Swillen Ann; Stalmans Ingeborg; Casteels Ingele
Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation or deletion in chromosome 22q11.2?
American journal of medical genetics. Part A 2005;132A(3):340-1.
2005: Mathijssen Inge B; Fryns Jean-Pierre; Devriendt Koen; Sznajer Yves; Van Eygen Maurice
Iris heterochromia: a variable feature in Verloes-Koulischer-oral-acral syndrome.
American journal of medical genetics. Part A 2005;132A(3):338-9.
2005: So Joyce; Suckow Vanessa; Kijas Zofia; Kalscheuer Vera; Moser Bettina; Winter Jennifer; Baars Marieke; Firth Helen; Lunt Peter; Hamel Ben; Meinecke Peter; Moraine Claude; Odent Sylvie; Schinzel Albert; van der Smagt J J; Devriendt Koen; Albrecht Beate; Gillessen-Kaesbach Gabriele; van der Burgt Ineke; Petrij Fred; Faivre Laurence; McGaughran Julie; McKenzie Fiona; Opitz John M; Cox Timothy; Schweiger Susann
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
American journal of medical genetics. Part A 2005;132A(1):1-7.
2005: Dimitrov B; Balikova I; Bradinova I; Zahariev D; Popova A; Simeonov E; De Smet L; Devriendt K; Fryns J P
The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
Genetic counseling (Geneva, Switzerland) 2005;16(2):181-6.
2005: Claes Erna; Denayer Lieve; Evers-Kiebooms Gerry; Boogaerts Andrea; Philippe Kristien; Tejpar Sabine; Devriendt Koen; Legius Eric
Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test.
Genetic testing 2005;9(1):54-65.
2004: Devriendt Koenraad; Swillen Ann; Schatteman Isabelle; Lemmerling Marc; Dhooge Ingeborg
Middle and inner ear malformations in velocardiofacial syndrome.
American journal of medical genetics. Part A 2004;131(2):225-6.
2004: Devriendt Koen; Fryns J P; Vanhole C; Bogaert G
Multiple circumferential skin creases: another sign of genetic mosaicism?
American journal of medical genetics. Part A 2004;131(2):219-20.
2004: Rossenbacker Tom; Carroll Sheila J; Liu Huajun; Kuipéri Cuno; de Ravel Thomy J L; Devriendt Koen; Carmeliet Peter; Kass Robert S; Heidbüchel Hein
Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.
Heart rhythm : the official journal of the Heart Rhythm Society 2004;1(5):610-5.
2004: Dunø Morten; Hove Hanne; Kirchhoff Maria; Devriendt Koenraad; Schwartz Marianne
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.
Human genetics 2004;115(6):459-67.
2004: Devriendt Koen; Fryns Jean-Pierre
Diagnostic evaluation for asymmetry: consider genetic mosaicism.
European journal of pediatrics 2004;163(10):634-5.
2004: Van Buggenhout G; Melotte C; Dutta B; Froyen G; Van Hummelen P; Marynen P; Matthijs G; de Ravel T; Devriendt K; Fryns J P; Vermeesch J R
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.
Journal of medical genetics 2004;41(9):691-8.
2004: Debeer P; Fryns J-P; Devriendt K; Baten E; Huysmans C; Van de Ven W J M
A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses.
American journal of medical genetics. Part A 2004;128A(4):439-40.
2004: Verri Annapia; Maraschio Paola; Devriendt Koen; Uggetti Carla; Spadoni Emanuela; Haeusler Edward; Federico Antonio
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.
Annales de génétique 2004;47(3):281-7.
2004: Devriendt Koen; Swillen Ann; Gewillig Marc; Fryns Jean-Pierre; Moens Pierre; De Smet Luc
Velocardiofacial syndrome presenting as distal arthrogryposis.
European journal of pediatrics 2004;163(6):329-30.
2004: Castermans Dries; Wilquet Valérie; Steyaert Jean; Van de Ven Wim; Fryns Jean-Pierre; Devriendt Koen
Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.
Autism : the international journal of research and practice 2004;8(2):141-61.
2004: Van Esch H; Poirier K; de Zegher F; Holvoet M; Bienvenu T; Chelly J; Devriendt K; Fryns J-P
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
Clinical genetics 2004;65(6):503-5.
2004: Vogels A; De Hert M; Descheemaeker M J; Govers V; Devriendt K; Legius E; Prinzie P; Fryns J P
Psychotic disorders in Prader-Willi syndrome.
American journal of medical genetics. Part A 2004;127A(3):238-43.
2004: Vogels Annick; Van Den Ende Jenneke; Keymolen Kathelijne; Mortier Geert; Devriendt Koen; Legius E; Fryns J P
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders.
European journal of human genetics : EJHG 2004;12(3):238-40.
2004: Skapenko Alla; Leipe Jan; Niesner Uwe; Devriendt Koen; Beetz Rolf; Radbruch Andreas; Kalden Joachim R; Lipsky Peter E; Schulze-Koops Hendrik
GATA-3 in human T cell helper type 2 development.
The Journal of experimental medicine 2004;199(3):423-8.
2004: Devriendt Koen; Vermeesch Joris R
Chromosomal phenotypes and submicroscopic abnormalities.
Human genomics 2004;1(2):126-33.
2004: Lukusa T; Vermeesch J R; Holvoet M; Fryns J P; Devriendt K
Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
Genetic counseling (Geneva, Switzerland) 2004;15(3):293-301.
2004: Dimitrov B; Devriendt K; Maas N M C; Vermeesch J R; Zahariev D; Avdjieva D; Popova A; Fryns J P; Simeonov E
Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).
Genetic counseling (Geneva, Switzerland) 2004;15(2):191-7.
2004: Prinzie P; Swillen A; Maes B; Onghena P; Vogels A; Van Hooste A; Devriendt K; Van Lieshout C F M; Fryns J P
Parenting, family contexts, and personality characteristics in youngsters with VCFS.
Genetic counseling (Geneva, Switzerland) 2004;15(2):141-57.
2003: Lemaire Francois X; Feenstra Louw; Huygen Patrick L M; Fransen Erik; Devriendt Koen; Van Camp Guy; Vantrappen Greet; Cremers Cor W R J; Wackym Phillip A; Koss John C
Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2003;24(5):743-8.
2003: Debeer Philippe; Peeters H; Driess S; De Smet L; Freese K; Matthijs G; Bornholdt D; Devriendt K; Grzeschik K-H; Fryns J-P; Kalff-Suske M
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
American journal of medical genetics. Part A 2003;120A(1):49-58.
2003: Frints Suzanna G M; Jun Lin; Fryns Jean-Pierre; Devriendt Koen; Teulingkx Rudi; Van den Berghe Lut; De Vos Bernice; Borghgraef Martine; Chelly Jamel; Des Portes Vincent; Van Bokhoven Hans; Hamel Ben; Ropers Hans-Hilger; Kalscheuer Vera; Raynaud Martine; Moraine Claude; Marynen Peter; Froyen Guy
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.
American journal of medical genetics. Part A 2003;119A(3):367-74.
2003: Debeer Philippe; Pykels E; Lammens J; Devriendt K; Fryns J-P
Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third family.
American journal of medical genetics. Part A 2003;119A(2):188-93.
2003: Irrthum Alexandre; Devriendt Koenraad; Chitayat David; Matthijs Gert; Glade Conrad; Steijlen Peter M; Fryns Jean-Pierre; Van Steensel Maurice A M; Vikkula Miikka
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
American journal of human genetics 2003;72(6):1470-8.
2003: Castermans D; Wilquet V; Parthoens E; Huysmans C; Steyaert J; Swinnen L; Fryns J-P; Van de Ven W; Devriendt K
The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism.
Journal of medical genetics 2003;40(5):352-6.
2003: Peeters H; Debeer P; Bairoch A; Wilquet V; Huysmans C; Parthoens E; Fryns J P; Gewillig M; Nakamura Y; Niikawa N; Van de Ven W; Devriendt K
PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse.
Human genetics 2003;112(5-6):573-80.
2003: Winter Jennifer; Lehmann Tanja; Suckow Vanessa; Kijas Zofia; Kulozik Andreas; Kalscheuer Vera; Hamel Ben; Devriendt Koen; Opitz John; Lenzner Steffen; Ropers Hans-Hilger; Schweiger Susann
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Human genetics 2003;112(3):249-54.
2003: Gebhardt Gabriel Stefan; Devriendt Koenraad; Thoelen Reinhilde; Swillen Ann; Pijkels Elly; Fryns Jean-Pierre; Vermeesch Joris R; Gewillig Marc
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.
European journal of human genetics : EJHG 2003;11(2):109-11.
2003: Wauters Anne; Dejagere Tom; Devriendt Koen; Vanrenterghem Yves; Maes Bart
Triangular face and vascular malformation. The links to renal failure.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2003;18(2):436-9.
2003: De Baere Elfride; Beysen Diane; Oley Christine; Lorenz Birgit; Cocquet Julie; De Sutter Paul; Devriendt Koen; Dixon Michael; Fellous Marc; Fryns Jean-Pierre; Garza Arturo; Jonsrud Christoffer; Koivisto Pasi A; Krause Amanda; Leroy Bart P; Meire Françoise; Plomp Astrid; Van Maldergem Lionel; De Paepe Anne; Veitia Reiner; Messiaen Ludwine
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
American journal of human genetics 2003;72(2):478-87.
2003: Lukusa T; Holvoet M; Vermeesch J R; Devriendt K; Fryns J P
Partial monosomy 11q and trisomy 12q: variable expression in two siblings.
Genetic counseling (Geneva, Switzerland) 2003;14(2):155-64.
2003: Vantrappen G; Rommel N; Swillen A; Cremers C W; Fryns J P; Devriendt K
Velo-cardio-facial syndrome: guidelines for diagnosis, treatment and follow-up of ent manifestations.
Acta oto-rhino-laryngologica Belgica 2003;57(2):101-6.
2003: De Smedt B; Swillen A; Ghesquière P; Devriendt K; Fryns J P
Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q11.2) of borderline or normal intelligence.
Genetic counseling (Geneva, Switzerland) 2003;14(1):15-29.
2002: Vermeesch J R; Baten E; Fryns J-P; Devriendt K
Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences.
Clinical genetics 2002;62(5):415-7.
2002: Debeer P; Mols R; Huysmans C; Devriendt K; Van de Ven W J M; Fryns J-P
Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t(X; 22)(q27;q11).
Clinical genetics 2002;62(5):410-4.
2002: Spruijt Liesbeth; Devriendt Koen; Offermans Jos; Bulstra Sjoerd; Schrander-Stumpel Connie
VATER--tibia aplasia association: report on two patients.
Clinical dysmorphology 2002;11(4):283-7.
2002: Debeer Ph; de Ravel T J L; Devriendt K; Fryns J-P; Huysmans C; Van de Ven W J M
Human homologues of Osr1 and Osr2 are not involved in a syndrome with distal limb deficiencies, oral abnormalities, and renal defects.
American journal of medical genetics 2002;111(4):455-6.
2002: Syrris Petros; Heathcote Kirsten; Carrozzo Romeo; Devriendt Koen; Elçioglu Nursel; Garrett Christine; McEntagart Meriel; Carter Nicholas D
Human piebaldism: six novel mutations of the proto-oncogene KIT.
Human mutation 2002;20(3):234.
2002: Devriendt Koen; Fryns Jean-Pierre; Lemmens Francis; Kohlhase Jürgen; Liebers Manuela
Somatic mosaicism and variable expression of Townes-Brocks syndrome.
American journal of medical genetics 2002;111(2):230-1.
2002: Witters I; Spitz B; Van Hole C; Devriendt K; Fryns J P; Verbek K
Resolution of non-immune hydrops in Noonan syndrome with favorable outcome.
American journal of medical genetics 2002;110(4):408-9.
2002: Gutierrez-Roelens Ilse; Sluysmans Thierry; Gewillig Marc; Devriendt Koen; Vikkula Miikka
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene.
Human mutation 2002;20(1):75-6.
2002: Bi Weimin; Yan Jiong; Stankiewicz Pawe; Park Sung-Sup; Walz Katherina; Boerkoel Cornelius F; Potocki Lorraine; Shaffer Lisa G; Devriendt Koen; Nowaczyk Magorzata J M; Inoue Ken; Lupski James R
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Genome research 2002;12(5):713-28.
2002: Vogels A; Verhoeven W M A; Tuinier S; DeVriendt K; Swillen A; Curfs L M G; Frijns J P
The psychopathological phenotype of velo-cardio-facial syndrome.
Annales de génétique 2002;45(2):89-95.
2002: Vantrappen Greet; Rommel Nathalie; Cremers Cor W R J; Fryns Jean-Pierre; Devriendt Koen
Mosaic trisomy 8 as a cause of velopharyngeal insufficiency.
American journal of medical genetics 2002;108(4):337-8.
2002: Syrrou Maria; Keymolen Katelÿne; Devriendt Koen; Holvoet Maureen; Thoelen Reinhilde; Verhofstadt K; Fryns Jean-Pierre
Glypican 1 gene: good candidate for brachydactyly type E.
American journal of medical genetics 2002;108(4):310-4.
2002: Witters I; Moerman Ph; Devriendt K; Braet P; Van Schoubroeck D; Van Assche F A; Fryns J P
Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type.
American journal of medical genetics 2002;108(1):41-4.
2002: Vogels Annick; Holvoet Maureen; Descheemaeker Mie-Jef; Fryns Jean-Pierre; Devriendt Koen
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
Annales de génétique 2002;45(1):1-3.
2002: Vantrappen G; Rommel N; Wellens W; Cremers C W R J; Fryns J-P; Devriendt K
Autosomal dominant isolated velopharyngeal insufficiency.
Clinical genetics 2002;61(1):74-6.
2002: Witters Ingrid; Devriendt K; Legius E; Matthijs G; Van Schoubroeck D; Van Assche F A; Fryns Jean-Pierre
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH).
Prenatal diagnosis 2002;22(1):29-33.
2002: Witters I; Devriendt K; Spinnewijn D; Moerman P; Van Assche F A; Fryns J P
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Müllerian duct anomalies.
American journal of medical genetics 2002;107(3):233-6.
2002: Prinzie P; Swillen A; Vogels A; Kockuyt V; Curfs L; Haselager G; Hellinckx W; Devriendt K; Onghena P; Van Lieshout C F M; Fryns J P
Personality profiles of youngsters with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 2002;13(3):265-80.
2002: Lukusa T; Van Buggenhout G; Devriendt K; Fryns J P
Pericentric inversion with partial 7(q35-->qter) duplication and 7pter deletion: diagnosis by cytogenetic and fish analysis in a 29-year-old male patient.
Genetic counseling (Geneva, Switzerland) 2002;13(1):1-10.
2001: Witters I; Devriendt K; Moerman P; Caudron J; Van Hole C; Fryns J P
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance.
American journal of medical genetics 2001;104(3):209-13.
2001: Witters I; Moerman P; Muenke M; Van Assche F A; Devriendt K; Legius E; Van Schoubroeck D; Fryns J P
Semilobar holoprosencephaly in a 46,XY female fetus.
Prenatal diagnosis 2001;21(10):839-41.
2001: Peeters H; Debeer P; Groenen P; Van Esch H; Vanderlinden G; Eyskens B; Mertens L; Gewillig M; Van de Ven W; Fryns J P; Devriendt K
Recurrent involvement of chromosomal region 6q21 in heterotaxy.
American journal of medical genetics 2001;103(1):44-7.
2001: Van Esch H; Devriendt K
Transcription factor GATA3 and the human HDR syndrome.
Cellular and molecular life sciences : CMLS 2001;58(9):1296-300.
2001: De Baere E; Dixon M J; Small K W; Jabs E W; Leroy B P; Devriendt K; Gillerot Y; Mortier G; Meire F; Van Maldergem L; Courtens W; Hjalgrim H; Huang S; Liebaers I; Van Regemorter N; Touraine P; Praphanphoj V; Verloes A; Udar N; Yellore V; Chalukya M; Yelchits S; De Paepe A; Kuttenn F; Fellous M; Veitia R; Messiaen L
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
Human molecular genetics 2001;10(15):1591-600.
2001: Frints S G; Fryns J; Lagae L; Syrrou M; Marynen P; Devriendt K
Xp22.3; Yq11.2 chromosome translocation and its clinical manifestations.
Annales de génétique 2001;44(2):71-6.
2001: Devriendt K; Kim A S; Mathijs G; Frints S G; Schwartz M; Van Den Oord J J; Verhoef G E; Boogaerts M A; Fryns J P; You D; Rosen M K; Vandenberghe P
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
Nature genetics 2001;27(3):313-7.
2001: Swillen A; Devriendt K; Ghesquière P; Fryns J P
Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age.
Genetic counseling (Geneva, Switzerland) 2001;12(4):309-17.
2001: De Smet L; Devriendt K; Fryns J P
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father.
Genetic counseling (Geneva, Switzerland) 2001;12(3):251-4.
2001: Vantrappen G; Rommel N; Devriendt K; Cremers C W; Feenstra L; Fryns J P
Clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
Acta oto-rhino-laryngologica Belgica 2001;55(1):43-8.
2000: Devriendt K
Genetic control of intra-uterine growth.
European journal of obstetrics, gynecology, and reproductive biology 2000;92(1):29-34.
2000: Claes S; Devriendt K; Van Goethem G; Roelen L; Meireleire J; Raeymaekers P; Cassiman J J; Fryns J P
Novel syndromic form of X-linked complicated spastic paraplegia.
American journal of medical genetics 2000;94(1):1-4.
2000: Irrthum A; Karkkainen M J; Devriendt K; Alitalo K; Vikkula M
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
American journal of human genetics 2000;67(2):295-301.
2000: Vogels A; Devriendt K; Vermeesch J R; Van Dael R; Marynen P; Dewaele P; Hageman J; Holvoet M; Fryns J P
Cryptic translocation t(5;18) in familial mental retardation.
Annales de génétique 2000;43(3-4):117-23.
2000: Van Esch H; Groenen P; Nesbit M A; Schuffenhauer S; Lichtner P; Vanderlinden G; Harding B; Beetz R; Bilous R W; Holdaway I; Shaw N J; Fryns J P; Van de Ven W; Thakker R V; Devriendt K
GATA3 haplo-insufficiency causes human HDR syndrome.
Nature 2000;406(6794):419-22.
2000: Witters I; Devriendt K; Moerman P; van Hole C; Fryns J P
Diaphragmatic hernia as the first echographic sign in Apert syndrome.
Prenatal diagnosis 2000;20(5):404-6.
2000: Devriendt K; Keymolen K; Roelen L; Van Goethem G; Meireleire J; Fryns J P
Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.
Clinical dysmorphology 2000;9(2):111-4.
2000: Lukusa T; Devriendt K; Holvoet M; Fryns J P
Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant.
American journal of medical genetics 2000;91(3):192-7.
1999: Swillen A; Vandeputte L; Cracco J; Maes B; Ghesquière P; Devriendt K; Fryns J P
Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability?
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 1999;5(4):230-41.
1999: Van Buggenhout G J; Trommelen J C; Schoenmaker A; De Bal C; Verbeek J J; Smeets D F; Ropers H H; Devriendt K; Hamel B C; Fryns J P
Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care.
American journal of medical genetics 1999;85(4):376-84.
1999: De Paepe A; Loeys B; Devriendt K; Fryns J P
Occipital Horn syndrome in a 2-year-old boy.
Clinical dysmorphology 1999;8(3):179-83.
1999: Claes S; Volcke P; Devriendt K; Holvoet M; Raeymaekers P; Cassiman J J; Fryns J P
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.
American journal of medical genetics 1999;85(3):283-7.
1999: Devriendt K; Holvoet M; Fryns J P
Follow-up of an adult with Keutel syndrome.
American journal of medical genetics 1999;85(1):82-3.
1999: Van Esch H; Groenen P; Daw S; Poffyn A; Holvoet M; Scambler P; Fryns J P; Van de Ven W; Devriendt K
Partial DiGeorge syndrome in two patients with a 10p rearrangement.
Clinical genetics 1999;55(4):269-76.
1999: Devriendt K; Matthijs G; Van Dael R; Gewillig M; Eyskens B; Hjalgrim H; Dolmer B; McGaughran J; Bröndum-Nielsen K; Marynen P; Fryns J P; Vermeesch J R
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
American journal of human genetics 1999;64(4):1119-26.
1999: Devriendt K; Matthijs G; Holvoet M; Schoenmakers E; Fryns J P
Triplication of distal chromosome 10q.
Journal of medical genetics 1999;36(3):242-5.
1999: Lukusa T; Devriendt K; Jaeken J; Fryns J P
Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1-->q35 due to maternal ins(14;2) translocation.
Clinical dysmorphology 1999;8(1):47-51.
1999: Lukusa T; Devriendt K; Fryns J P
A 3p deletion syndrome in a child with both del(3)(p25-->pter) and dup(17)(q23-->qter).
Annales de génétique 1999;42(2):91-4.
1999: Swillen A; Devriendt K; Legius E; Prinzie P; Vogels A; Ghesquière P; Fryns J P
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.
Genetic counseling (Geneva, Switzerland) 1999;10(1):79-88.
1999: Rommel N; Vantrappen G; Swillen A; Devriendt K; Feenstra L; Fryns J P
Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome.
Genetic counseling (Geneva, Switzerland) 1999;10(1):71-8.
1999: Van Esch H; Groenen P; Fryns J P; Van de Ven W; Devriendt K
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
Genetic counseling (Geneva, Switzerland) 1999;10(1):59-65.
1999: Vantrappen G; Devriendt K; Swillen A; Rommel N; Vogels A; Eyskens B; Gewillig M; Feenstra L; Fryns J P
Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.
Genetic counseling (Geneva, Switzerland) 1999;10(1):3-9.
1998: Swillen A; Devriendt K; Vantrappen G; Vogels A; Rommel N; Fryns J P; Eyskens B; Gewillig M; Dumoulin M
Familial deletions of chromosome 22q11: the Leuven experience.
American journal of medical genetics 1998;80(5):531-2.
1998: Vantrappen G; Rommel N; Cremers C W; Devriendt K; Frijns J P
The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications.
International journal of pediatric otorhinolaryngology 1998;45(2):133-41.
1998: Van Geet C; Devriendt K; Eyskens B; Vermylen J; Hoylaerts M F
Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets.
Pediatric research 1998;44(4):607-11.
1998: Lukusa T; Devriendt K; Holvoet M; Fryns J P
Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.
Clinical genetics 1998;54(3):224-30.
1998: Devriendt K; Fryns J P; Mortier G; van Thienen M N; Keymolen K
The annual incidence of DiGeorge/velocardiofacial syndrome.
Journal of medical genetics 1998;35(9):789-90.
1998: Devriendt K; Matthijs G; Van Damme B; Van Caesbroeck D; Eccles M; Vanrenterghem Y; Fryns J P; Leys A
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
Human genetics 1998;103(2):149-53.
1998: Matthijs G; Devriendt K; Fryns J P
The prenatal diagnosis of spinal muscular atrophy.
Prenatal diagnosis 1998;18(6):607-10.
1998: Devriendt K; Stoffelen D; Pfeiffer R; Leys A; Fryns J P
Oto-onycho-peroneal syndrome: confirmation of a syndrome.
Journal of medical genetics 1998;35(6):508-9.
1998: Devriendt K; Swillen A; Fryns J P
Deletion in chromosome region 22q11 in a child with CHARGE association.
Clinical genetics 1998;53(5):408-10.
1998: Fryns J P; Van Lingen C; Devriendt K; Legius E; Raus P
Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.
Journal of medical genetics 1998;35(4):333-5.
1998: Groenen P M; Vanderlinden G; Devriendt K; Fryns J P; Van de Ven W J
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia.
Genomics 1998;49(2):218-29.
1998: Devriendt K; Groenen P; Van Esch H; van Dijck M; Van de Ven W; Fryns J P; Proesmans W
Vesico-ureteral reflux: a genetic condition?
European journal of pediatrics 1998;157(4):265-71.
1998: Devriendt K; Vanhole C; Matthijs G; de Zegher F
Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.
The New England journal of medicine 1998;338(18):1317-8.
1998: Devriendt K; Van Schoubroeck D; Eyskens B; Vantrappen G; Swillen A; Gewillig M; Dumoulin M; Moerman P; Vandenberghe K; Fryns J P
Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.
Prenatal diagnosis 1998;18(1):68-72.
1998: Devriendt K; Van Schoubroeck D; Eyskens B; Gewillig M; Vandenberghe K; Fryns J P
Prenatal diagnosis of a terminal short arm deletion of chromosome 8 in a fetus with an atrioventricular septal defect.
Prenatal diagnosis 1998;18(1):65-7.
1998: Devriendt K; Standaert L; Van Hole C; Devlieger H; Fryns J P
Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
Journal of medical genetics 1998;35(1):70-1.
1998: Devriendt K; Matthijs G; Meireleire J; Roelen L; van Buggenhout G; Fryns J P
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
Genetic counseling (Geneva, Switzerland) 1998;9(4):283-6.
1998: Petit P; Devriendt K; Azou M; Gewillig M; Fryns J P
Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.
Genetic counseling (Geneva, Switzerland) 1998;9(4):271-5.
1998: Vogels A; Devriendt K; Legius E; Decock P; Marien J; Hendrickx G; Fryns J P
The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents.
Genetic counseling (Geneva, Switzerland) 1998;9(4):245-53.
1998: Lukusa T; Van Buggenhout G; Devriendt K; Meireleire J; Van Goethem G; Roelen L; Fryns J P
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.
Annales de génétique 1998;41(4):199-204.
1998: Petit P; Devriendt K; Vermeesch J R; Meireleire J; Fryns J P
Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p).
Genetic counseling (Geneva, Switzerland) 1998;9(3):215-21.
1998: Devriendt K; Holvoet M; Fryns J P
Further delineation of the KBG syndrome.
Genetic counseling (Geneva, Switzerland) 1998;9(3):191-4.
1998: Fryns J P; Smeets E; Devriendt K; Petit P
Wolf-Hirschhorn syndrome with cryptic 4p16.3 deletion and balanced/unbalanced mosaicism in the mother.
Annales de génétique 1998;41(2):73-6.
1998: Petit P; Devriendt K; Vermeesch J R; De Cock P; Fryns J P
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.
Annales de génétique 1998;41(1):22-6.
1998: Fryns J P; Devriendt K; Detroch C; Decock P
Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia.
Genetic counseling (Geneva, Switzerland) 1998;9(1):51-4.
1997: Claes S; Vogels A; Holvoet M; Devriendt K; Raeymaekers P; Cassiman J J; Fryns J P
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50).
American journal of medical genetics 1997;73(4):474-9.
1997: Claes S; Devriendt K; D'Adamo P; Meireleire J; Raeymaekers P; Toniolo D; Cassiman J J; Fryns J P
X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.
Clinical genetics 1997;52(3):155-61.
1997: Claeys I; Holvoet M; Eyskens B; Adriaensens P; Gewillig M; Fryns J P; Devriendt K
A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.
American journal of medical genetics 1997;74(5):515-20.
1997: Claes S; Devriendt K; Lagae L; Ceulemans B; Dom L; Casaer P; Raeymaekers P; Cassiman J J; Fryns J P
The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.
Annals of neurology 1997;42(3):360-4.
1997: Swillen A; Devriendt K; Legius E; Eyskens B; Dumoulin M; Gewillig M; Fryns J P
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.
Journal of medical genetics 1997;34(6):453-8.
1997: Vermeesch J R; Petit P; Speleman F; Devriendt K; Fryns J P; Marynen P
Interstitial telomeric sequences at the junction site of a jumping translocation.
Human genetics 1997;99(6):735-7.
1997: Devriendt K; Moerman P; Van Schoubroeck D; Vandenberghe K; Fryns J P
Chromosome 22q11 deletion presenting as the Potter sequence.
Journal of medical genetics 1997;34(5):423-5.
1997: Devriendt K; Petit P; Matthijs G; Vermeesch J R; Holvoet M; De Muelenaere A; Marynen P; Cassiman J J; Fryns J P
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.
Journal of medical genetics 1997;34(5):395-9.
1997: Devriendt K; Van Hoestenberghe R; Van Hole C; Devlieger H; Gewillig M; Moerman P; Van den Berghe H; Fryns J P
Submicroscopic deletion in chromosome 22q11 in trizygous triplet siblings and their father. Clinical variability of 22q11 deletion.
Clinical genetics 1997;51(4):246-9.
1997: Devriendt K; Matthijs G; Claes S; Legius E; Proesmans W; Cassiman J J; Fryns J P
Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.
Journal of medical genetics 1997;34(4):318-22.
1997: Devriendt K; Matthijs G; Legius E; Schollen E; Blockmans D; van Geet C; Degreef H; Cassiman J J; Fryns J P
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
American journal of human genetics 1997;60(3):581-7.
1997: Devriendt K; De Smet L; De Boeck K; Fryns J P
DiGeorge syndrome and unilateral symbrachydactyly.
Genetic counseling (Geneva, Switzerland) 1997;8(4):345-7.
1996: Groenen P M; Garcia E; Debeer P; Devriendt K; Fryns J P; Van de Ven W J
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia.
Genomics 1996;38(2):141-8.
1996: Devriendt K; Lammens M; Schollen E; Van Hole C; Dom R; Devlieger H; Cassiman J J; Fryns J P; Matthijs G
Clinical and molecular genetic features of congenital spinal muscular atrophy.
Annals of neurology 1996;40(5):731-8.
1996: Devriendt K; Thienen M N; Swillen A; Fryns J P
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome.
Developmental medicine and child neurology 1996;38(10):949-53.
1996: Devriendt K; Eyskens B; Swillen A; Dumoulin M; Gewillig M; Fryns J P
The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease.
European journal of pediatrics 1996;155(8):721.
1996: Matthijs G; Schollen E; Legius E; Devriendt K; Goemans N; Kayserili H; Apäk M Y; Cassiman J J
Unusual molecular findings in autosomal recessive spinal muscular atrophy.
Journal of medical genetics 1996;33(6):469-74.
1996: Devriendt K; van den Berghe K; Moerman P; Fryns J P
Elevated maternal serum and amniotic fluid alpha-fetoprotein levels in the Denys-Drash syndrome.
Prenatal diagnosis 1996;16(5):455-7.
1996: Fryns J P; Legius E; Devriendt K; Meire F; Standaert L; Baten E; Van den Berghe H
Cohen syndrome: the clinical symptoms and stigmata at a young age.
Clinical genetics 1996;49(5):237-41.
1996: Devriendt K; Swillen A; Fryns J P; Proesmans W; Gewillig M
Renal and urological tract malformations caused by a 22q11 deletion.
Journal of medical genetics 1996;33(4):349.
1996: Devriendt K; Legius E; Fryns J P
Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?
American journal of medical genetics 1996;62(1):54-7.
1996: Devriendt K; D'Espallier L; Fryns J P
Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.
Journal of medical genetics 1996;33(3):224-6.
1996: Devriendt K; Dooms L; Proesmans W; de Zegher F; Desmet V; Eggermont E
Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: atypical Alagille syndrome?
European journal of pediatrics 1996;155(2):87-90.
1996: Devriendt K; van den Oord J; De Vos R; Van den Berghe H; Fryns J P
Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histological skin abnormalities.
American journal of medical genetics 1996;61(2):127-30.
1996: Groenen P M; Garcia E; Thoelen R; Aly M; Schoenmakers E F; Devriendt K; Fryns J P; Van de Ven W J
Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia.
Cytogenetics and cell genetics 1996;75(4):210-5.
1996: Fryns J P; D'Hooghe M; Devriendt K
Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene.
Genetic counseling (Geneva, Switzerland) 1996;7(3):227-30.
1995: Devriendt K; Deloof E; Moerman P; Legius E; Vanhole C; de Zegher F; Proesmans W; Devlieger H
Diaphragmatic hernia in Denys-Drash syndrome.
American journal of medical genetics 1995;57(1):97-101.
1995: Guo C; Van Damme B; Vanrenterghem Y; Devriendt K; Cassiman J J; Marynen P
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
The Journal of clinical investigation 1995;95(4):1832-7.
1995: Devriendt K; Van Mol C; Fryns J P
Craniofrontonasal dysplasia: more severe expression in the mother than in her son.
Genetic counseling (Geneva, Switzerland) 1995;6(4):361-4.
1995: Devriendt K; De Mars K; De Cock P; Gewillig M; Fryns J P
Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome.
Annales de génétique 1995;38(4):228-30.
1994: Devriendt K; Casaer A; Van Cauter A; de Zegher F; Dumoulin M; Gewillig M; Devlieger H
Asplenia syndrome and isolated total anomalous pulmonary venous connection in siblings.
European journal of pediatrics 1994;153(10):712-4.
1993: Devriendt K; Massa G; de Zegher F; Vanderschueren-Lodeweyckx M; Cassiman J J; Van den Berghe H; Marynen P
Opposite effects of growth hormone and estrogens on the pregnancy zone protein serum levels in children and adolescents.
Acta endocrinologica 1993;128(4):334-8.
1993: Aly M S; Dal Cin P; Moerman P; De Wever I; Devriendt K; Brock P; Casteels-Van Daele M; Van den Berghe H
Loss of the Y-chromosome in a malignant Sertoli tumor.
Cancer genetics and cytogenetics 1993;65(2):104-6.
1993: Fryns J P; Kleczkowska A; Devriendt K; Devliegher H; Van den Berghe H
Wiedemann-Beckwith syndrome and chromosomal duplication 4q/deficiency 18p.
Genetic counseling (Geneva, Switzerland) 1993;4(1):37-41.
1992: Matthijs G; Devriendt K; Cassiman J J; Van den Berghe H; Marynen P
Structure of the human alpha-2 macroglobulin gene and its promotor.
Biochemical and biophysical research communications 1992;184(2):596-603.
1991: Devriendt K; Van den Berghe H; Cassiman J J; Marynen P
Primary structure of pregnancy zone protein. Molecular cloning of a full-length PZP cDNA clone by the polymerase chain reaction.
Biochimica et biophysica acta 1991;1088(1):95-103.
1990: Zhang J; Devriendt K; Marynen P; Van den Berghe H; Cassiman J J
Chromosome mapping using polymerase chain reaction on somatic cell hybrids.
Cancer genetics and cytogenetics 1990;45(2):217-21.
1990: Marynen P; Devriendt K; Van den Berghe H; Cassiman J J
A genetic polymorphism in a functional domain of human pregnancy zone protein: the bait region. Genomic structure of the bait domains of human pregnancy zone protein and alpha 2 macroglobulin.
FEBS letters 1990;262(2):349-52.
1989: Zhang J; Marynen P; Devriendt K; Fryns J P; Van den Berghe H; Cassiman J J
Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome.
Human genetics 1989;83(4):359-63.
1989: Devriendt K; Zhang J; van Leuven F; van den Berghe H; Cassiman J J; Marynen P
A cluster of alpha 2-macroglobulin-related genes (alpha 2 M) on human chromosome 12p: cloning of the pregnancy-zone protein gene and an alpha 2M pseudogene.
Gene 1989;81(2):325-34.

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