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Joris Vermeesch
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71
Fryns, Jean-Pierre
37
Devriendt, Koen
25
Marynen, Peter
19
Thienpont, Bernard
15
Melotte, Cindy
14
de Ravel, T J L
11
Maas, Nicole
10
Matthijs, Gert
9
Thoelen, Reinhilde
9
Speleman, Frank
8
Moreau, Yves
8
Balikova, Irina
7
Van Buggenhout, Griet
7
Van Vooren, Steven
7
Van Esch, Hilde
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All Publications
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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.
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2009: Vanneste Evelyne; Voet Thierry; Melotte Cindy; Debrock Sophie; Sermon Karen; Staessen Catherine; Liebaers Inge; Fryns Jean-Pierre; D'Hooghe Thomas; Vermeesch Joris R
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate.
Human reproduction (Oxford, England) 2009;24(11):2679-82.
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2009: Robberecht Caroline; Schuddinck Vicky; Fryns Jean-Pierre; Vermeesch Joris Robert
Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(9):646-54.
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2009: Balikova I; Lehesjoki A-E; de Ravel T J L; Thienpont B; Chandler K E; Clayton-Smith J; Träskelin A-L; Fryns J-P; Vermeesch J R
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
Human mutation 2009;30(9):E845-54.
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2009: Witters Ingrid; Chabchoub Elyes; Vermeesch Joris R; Fryns Jean-Pierre
Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis.
American journal of medical genetics. Part A 2009;149A(8):1834-6.
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2009: Balikova Irina; Vermeesch Joris Robert; Fryns Jean-Pierre; Van Esch Hilde
Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).
European journal of medical genetics 2009;52(4):260-1.
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2009: de Ravel Thomy; Balikova Irina; Van Driessche Jozef; Vermeesch Joris; Fryns Jean-Pierre
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.
American journal of medical genetics. Part A 2009;149A(6):1315-6.
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2009: Vanneste E; Melotte C; Debrock S; D'Hooghe T; Brems H; Fryns J P; Legius E; Vermeesch J R
Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions.
Human reproduction (Oxford, England) 2009;24(6):1522-8.
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2009: Vanneste Evelyne; Voet Thierry; Le Caignec Cédric; Ampe Michèle; Konings Peter; Melotte Cindy; Debrock Sophie; Amyere Mustapha; Vikkula Miikka; Schuit Frans; Fryns Jean-Pierre; Verbeke Geert; D'Hooghe Thomas; Moreau Yves; Vermeesch Joris R
Chromosome instability is common in human cleavage-stage embryos.
Nature medicine 2009;15(5):577-83.
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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.
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2009: de Ravel Thomy J; Balikova Irina; Thiry Paul; Vermeesch Joris R; Frijns Jean-Pierre
Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.
European journal of medical genetics 2009;52(2-3):120-2.
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2009: de Ravel Thomy J L; Ameye Liliane; Ballon Katleen; Borghgraef Martine; Vermeesch Joris R; Devriendt Koen
Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
European journal of medical genetics 2009;52(2-3):145-7.
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2009: Melo J B; Matoso E; Polityko A; Saraiva J; Backx L; Vermeesch J R; Kosyakova N; Ewers E; Liehr T; Carreira I M
Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.
Cytogenetic and genome research 2009;125(2):109-14.
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2009: Carreira Isabel M; Melo Joana B; Rodrigues Carlos; Backx Liesbeth; Vermeesch Joris; Weise Anja; Kosyakova Nadezda; Oliveira Guiomar; Matoso Eunice
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.
Molecular Cytogenetics 2009;2():16.
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2008: Stoeva Radka E; Grozdanova Liliana I; Vermeesch Joris R; Kirchhoff Maria; Fryns Jean-Pierre; Ivanov Ivan S; Patcheva Iliana H; Dimitrov Boyan I; Krastev Tsanyu B; Linev Alexander J; Stefanova Margarita T
Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations.
Folia medica 2008;50(4):55-62.
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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.
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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.
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2008: Utine Eda G; Alanay Yasemin; Aktas Dilek; Alikasifoglu Mehmet; Boduroglu Koray; Vermeesch Joris; Tuncbilek Ergul; Fryns Jean-Pierre
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.
European journal of medical genetics 2008;51(4):343-50.
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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.
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2008: Petrov Victor V; van Pelt Jos F; Vermeesch Joris R; Van Duppen Viktor J; Vekemans Katrien; Fagard Robert H; Lijnen Paul J
TGF-beta1-induced cardiac myofibroblasts are nonproliferating functional cells carrying DNA damages.
Experimental cell research 2008;314(7):1480-94.
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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.
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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.
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2008: Hannes F; Vermeesch J R
Benign and pathogenic copy number variation on the short arm of chromosome 4.
Cytogenetic and genome research 2008;123(1-4):88-93.
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2008: Peeters H; Vermeesch J; Fryns J P
A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
Genetic counseling (Geneva, Switzerland) 2008;19(4):365-71.
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2008: Liehr Thomas; Mrasek Kristin; Kosyakova Nadezda; Ogilvie Caroline Mackie; Vermeesch Joris; Trifonov Vladimir; Rubtsov Nikolai
Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them.
Molecular Cytogenetics 2008;1(1):12.
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2008: Backx Liesbeth; Thoelen Reinhilde; Van Esch Hilde; Vermeesch Joris R
Direct fluorescent labelling of clones by DOP PCR.
Molecular Cytogenetics 2008;1(1):3.
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2007: Le Caignec Cedric; Delnatte Capucine; Vermeesch Joris R; Boceno Michelle; Joubert Madeleine; Lavenant Francoise; David Albert; Rival Jean-Marie
Complete sex reversal in a WAGR syndrome patient.
American journal of medical genetics. Part A 2007;143A(22):2692-5.
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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.
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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.
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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.
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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.
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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.
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2007: Van Vooren Steven; Coessens Bert; De Moor Bart; Moreau Yves; Vermeesch Joris R
Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):642-9.
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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.
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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.
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2007: Jehee Fernanda S; Bertola Débora R; Yelavarthi Krishna K; Krepischi-Santos Ana C V; Kim Chong; Vianna-Morgante Angela M; Vermeesch Joris R; Passos-Bueno Maria Rita
An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.
American journal of medical genetics. Part A 2007;143A(16):1912-8.
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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.
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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.
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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.
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2007: Chabchoub Elyes; Rodríguez Laura; Galán Enrique; Mansilla Elena; Martínez-Fernandez Maria Luisa; Martínez-Frías Maria Luisa; Fryns Jean-Pierre; Vermeesch Joris Robert
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
Journal of medical genetics 2007;44(4):250-6.
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2007: Wozniak Agnieszka; Sciot Raf; Guillou Louis; Pauwels Patrick; Wasag Bartosz; Stul Michel; Vermeesch Joris Robert; Vandenberghe Peter; Limon Janusz; Debiec-Rychter Maria
Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status.
Genes, chromosomes & cancer 2007;46(3):261-76.
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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.
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2007: Van Vooren Steven; Thienpont Bernard; Menten Björn; Speleman Frank; De Moor Bart; Vermeesch Joris; Moreau Yves
Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations.
Nucleic acids research 2007;35(8):2533-43.
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2007: Backx L; Van Esch H; Melotte C; Kosyakova N; Starke H; Frijns J-P; Liehr T; Vermeesch J R
Array painting using microdissected chromosomes to map chromosomal breakpoints.
Cytogenetic and genome research 2007;116(3):158-66.
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2006: Chabchoub E; de Ravel T; Thoelen R; Vermeesch J R; Fryns J-P; Van Esch H
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.
Clinical genetics 2006;70(6):535-7.
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2006: Severi Tamara; Ying Chunxiao; Vermeesch Joris Robert; Cassiman David; Cnops Lieselotte; Verslype Chris; Fevery Johan; Arckens Lutgarde; Neyts Johan; van Pelt Jos F
Hepatitis B virus replication causes oxidative stress in HepAD38 liver cells.
Molecular and cellular biochemistry 2006;290(1-2):79-85.
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2006: De Raedt Thomas; Maertens Ophélia; Chmara Magdalena; Brems Hilde; Heyns Ine; Sciot Raf; Majounie Elisa; Upadhyaya Meena; De Schepper Sofie; Speleman Frank; Messiaen Ludwine; Vermeesch Joris Robert; Legius Eric
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.
Genes, chromosomes & cancer 2006;45(10):893-904.
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2006: Vermeesch Joris Robert; Rauch Anita
Reply to Hochstenbach et al. 'Molecular karyotyping'.
European journal of human genetics : EJHG 2006;14(10):1063-4.
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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.
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2006: Thienpont Bernard; Vermeesch Joris; Devriendt Koen
Anterior cervical hypertrichosis and mental retardation.
Clinical dysmorphology 2006;15(3):189-90.
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2006: Delnatte Capucine; Sanlaville Damien; Mougenot Jean-Francois; Vermeesch Joris-Robert; Houdayer Claude; Blois Marie-Christine de; Genevieve David; Goulet Olivier; Fryns Jean-Pierre; Jaubert Francis; Vekemans Michel; Lyonnet Stanislas; Romana Serge; Eng Charis; Stoppa-Lyonnet Dominique
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
American journal of human genetics 2006;78(6):1066-74.
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2006: Balci Sevim; Engiz Ozlem; Aktas Dilek; Vargel Ibrahim; Beksaç M S; Mrasek Kristin; Vermeesch Joris; Liehr Thomas
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies.
American journal of medical genetics. Part A 2006;140(6):628-32.
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2006: Maertens Ophélia; Prenen Hans; Debiec-Rychter Maria; Wozniak Agnieszka; Sciot Raf; Pauwels Patrick; De Wever Ivo; Vermeesch Joris R; de Raedt Thomas; De Paepe Anne; Speleman Frank; van Oosterom Allan; Messiaen Ludwine; Legius Eric
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.
Human molecular genetics 2006;15(6):1015-23.
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2006: Liehr Thomas; Starke Heike; Senger Gabriele; Melotte Cindy; Weise Anja; Vermeesch Joris Robert
Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC.
American journal of medical genetics. Part A 2006;140(1):46-51.
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2006: Maas N; Thienpont B; Vermeesch J R; Fryns J P
Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q.
Genetic counseling (Geneva, Switzerland) 2006;17(4):477-9.
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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.
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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.
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2006: Le Caignec Cedric; Spits Claudia; Sermon Karen; De Rycke Martine; Thienpont Bernard; Debrock Sophie; Staessen Catherine; Moreau Yves; Fryns Jean-Pierre; Van Steirteghem Andre; Liebaers Inge; Vermeesch Joris R
Single-cell chromosomal imbalances detection by array CGH.
Nucleic acids research 2006;34(9):e68.
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2006: Liehr T; Mrasek K; Weise A; Dufke A; Rodríguez L; Martínez Guardia N; Sanchís A; Vermeesch J R; Ramel C; Polityko A; Haas O A; Anderson J; Claussen U; von Eggeling F; Starke H
Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.
Cytogenetic and genome research 2006;112(1-2):23-34.
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2005: Maas Nicole M C; Vermeesch Joris R; Fryns Jean-Pierre
A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome.
American journal of medical genetics. Part A 2005;138A(3):294-6.
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2005: Thienpont Bernard; Vermeesch Joris R; Fryns Jean-Pierre
25 Mb deletion of 13q13.3-->q21.31 in a patient without retinoblastoma.
European journal of medical genetics 2005;48(3):363-6.
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2005: de Ravel Thomy; Aerssens Peter; Vermeesch Joris R; Fryns Jean-Pierre
Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.
European journal of medical genetics 2005;48(3):355-9.
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2005: Le Caignec Cédric; Swillen Ann; Van Asche Elvire; Fryns Jean-Pierre; Vermeesch Joris R
Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
European journal of medical genetics 2005;48(3):339-45.
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2005: Vermeesch Joris Robert; Melotte Cindy; Salden Ivo; Riegel Mariluce; Trifnov Vladimir; Polityko Anna; Rumyantseva Natalia; Naumchik Irina; Starke Heike; Matthijs Gert; Schinzel Albert; Fryns Jean-Pierre; Liehr Thomas
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
European journal of medical genetics 2005;48(3):319-27.
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2005: Van Buggenhout G; Van Ravenswaaij-Arts C; Mc Maas N; Thoelen R; Vogels A; Smeets Dominique; Salden I; Matthijs G; Fryns J-P; Vermeesch J R
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.
European journal of medical genetics 2005;48(3):276-89.
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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.
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2005: Dhami Pawandeep; Coffey Alison J; Abbs Stephen; Vermeesch Joris R; Dumanski Jan P; Woodward Karen J; Andrews Robert M; Langford Cordelia; Vetrie David
Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.
American journal of human genetics 2005;76(5):750-62.
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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.
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2005: Michils Geneviève; Tejpar Sabine; Thoelen Reinhilde; van Cutsem Eric; Vermeesch Joris Robert; Fryns Jean-Pierre; Legius Eric; Matthijs Gert
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.
Human mutation 2005;25(2):125-34.
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2005: Utine G E; Melotte C; Vermeesch J R; Fryns J P
Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1.
Genetic counseling (Geneva, Switzerland) 2005;16(4):407-12.
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2005: Utine G E; Thoelen R; Peeters H; Vermeesch J; Fryns J P
Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisation.
Genetic counseling (Geneva, Switzerland) 2005;16(3):291-5.
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2005: Lukusa T; Smeets E; Vogels A; Vermeesch J R; Fryns J P
Terminal 2q37 deletion and autistic behaviour.
Genetic counseling (Geneva, Switzerland) 2005;16(2):179-80.
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2005: Menten Björn; Pattyn Filip; De Preter Katleen; Robbrecht Piet; Michels Evi; Buysse Karen; Mortier Geert; De Paepe Anne; van Vooren Steven; Vermeesch Joris; Moreau Yves; De Moor Bart; Vermeulen Stefan; Speleman Frank; Vandesompele Jo
arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays.
BMC bioinformatics 2005;6():124.
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2005: Lukusa T; Vermeesch J R; Fryns J P
De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature.
Genetic counseling (Geneva, Switzerland) 2005;16(1):1-15.
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2004: de Ravel Thomy J L; Keymolen Kathelijn; van Assche Elvire; Wittevronghel Ingrid; Moerman Philippe; Salden Ivo; Matthijs Gert; Fryns Jean-Pierre; Vermeesch Joris R
Post-zygotic origin of isochromosome 12p.
Prenatal diagnosis 2004;24(12):984-8.
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2004: Van Buggenhout Griet; Maas Nicole M C; Fryns Jean-Pierre; Vermeesch Joris R
A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings.
American journal of medical genetics. Part A 2004;131(2):186-9.
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2004: Melotte C; Debrock S; D'Hooghe T; Fryns J P; Vermeesch J R
Preimplantation genetic diagnosis for an insertional translocation carrier.
Human reproduction (Oxford, England) 2004;19(12):2777-83.
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2004: Graux C; Cools J; Melotte C; Quentmeier H; Ferrando A; Levine R; Vermeesch J R; Stul M; Dutta B; Boeckx N; Bosly A; Heimann P; Uyttebroeck A; Mentens N; Somers R; MacLeod R A F; Drexler H G; Look A T; Gilliland D G; Michaux L; Vandenberghe P; Wlodarska I; Marynen Peter; Hagemeijer Anne
Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia.
Nature genetics 2004;36(10):1084-9.
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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.
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2004: De Raedt Thomas; Brems Hilde; Lopez-Correa Catalina; Vermeesch Joris Robert; Marynen Peter; Legius Eric
Genomic organization and evolution of the NF1 microdeletion region.
Genomics 2004;84(2):346-60.
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2004: Vermeesch J R; Thoelen R; Fryns Jean Pierre
A familial complex chromosome translocation resulting in duplication of 6p25.
Annales de génétique 2004;47(3):275-80.
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2004: Martens Ellen; Stevens Ilse; Janssens Veerle; Vermeesch Joris; Götz Jürgen; Goris Jozef; Van Hoof Christine
Genomic organisation, chromosomal localisation tissue distribution and developmental regulation of the PR61/B' regulatory subunits of protein phosphatase 2A in mice.
Journal of molecular biology 2004;336(4):971-86.
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2004: Debeer Ph; Vandenbossche L; de Ravel T J L; Desloovere C; De Smet L; Huysmans C; Thoelen R; Vermeesch J; Van de Ven W J M; Fryns J P
Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.
Clinical genetics 2004;65(2):153-5.
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2004: Devriendt Koen; Vermeesch Joris R
Chromosomal phenotypes and submicroscopic abnormalities.
Human genomics 2004;1(2):126-33.
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2004: de Ravel T J L; Fryns J P; Van Driessche J; Vermeesch J R
Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation.
American journal of medical genetics. Part A 2004;124A(3):259-62.
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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.
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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.
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2003: Vermeesch J R; Thoelen R; Salden I; Raes M; Matthijs G; Fryns J-P
Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event.
Journal of medical genetics 2003;40(8):e93.
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2003: Vermeesch Joris R; Fryns Jean-Pierre
Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27).
American journal of medical genetics. Part A 2003;120A(2):299-300.
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2003: Veltman Joris A; Jonkers Yvonne; Nuijten Inge; Janssen Irene; van der Vliet Walter; Huys Erik; Vermeesch Joris; Van Buggenhout Griet; Fryns Jean-Pierre; Admiraal Ronald; Terhal Paulien; Lacombe Didier; van Kessel Ad Geurts; Smeets Dominique; Schoenmakers Eric F P M; van Ravenswaaij-Arts Conny M
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.
American journal of human genetics 2003;72(6):1578-84.
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2003: De Bari Cosimo; Dell'Accio Francesco; Vandenabeele Frank; Vermeesch Joris R; Raymackers Jean-Marc; Luyten Frank P
Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane.
The Journal of cell biology 2003;160(6):909-18.
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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.
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2003: de Ravel T J L; Vermeesch J R; Fryns J-P
De novo interstitial tandem duplication of chromosome 20p12.1p13.
American journal of medical genetics. Part A 2003;117A(1):76-9.
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2003: Vermeesch J R; Duhamel H; Raeymaekers P; Van Zand K; Verhasselt P; Fryns J P; Marynen P
A physical map of the chromosome 12 centromere.
Cytogenetic and genome research 2003;103(1-2):63-73.
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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.
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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.
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2002: Vermeesch J R; Syrrou M; Salden I; Dhondt F; Matthijs G; Fryns J-P
Mosaicism for duplication 12q (12q13-->12q21.2) accompanied by a pericentric inversion in a dysmorphic female infant.
Journal of medical genetics 2002;39(11):e72.
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2002: Lukusa T; Smeets E; Vermeesch J R; Fryns J P
Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis.
Genetic counseling (Geneva, Switzerland) 2002;13(4):417-25.
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2001: Veugelers M; De Cat B; Delande N; Esselens C; Bonk I; Vermeesch J; Marynen P; Fryns J P; David G
A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 gene cluster on chromosome 13q32.
Matrix biology : journal of the International Society for Matrix Biology 2001;20(5-6):375-85.
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2001: Voet T; Vermeesch J; Carens A; Dürr J; Labaere C; Duhamel H; David G; Marynen P
Efficient male and female germline transmission of a human chromosomal vector in mice.
Genome research 2001;11(1):124-36.
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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.
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2000: Falzetti D; Vermeesch J R; Matteucci C; Ciolli S; Martelli M F; Marynen P; Mecucci C
Microdissection and FISH investigations in acute myeloid leukemia: a step forward to full identification of complex karyotypic changes.
Cancer genetics and cytogenetics 2000;118(1):28-34.
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1999: Vermeesch J R; Duhamel H; Petit P; Falzetti D; Fryns J P; Marynen P
Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male.
Human genetics 1999;105(6):611-8.
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1999: Veugelers M; De Cat B; Ceulemans H; Bruystens A M; Coomans C; Dürr J; Vermeesch J; Marynen P; David G
Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans.
The Journal of biological chemistry 1999;274(38):26968-77.
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1999: Falzetti D; Vermeesch J R; Hood T L; Nacheva E P; Matteucci C; Martelli M F; Van den Berghe H; Marynen P; Mecucci C
Identification of multiple copies of a 20q-chromosome in a case of myelodysplastic syndrome: a FISH study.
Leukemia research 1999;23(4):407-13.
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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.
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1998: Veugelers M; Vermeesch J; Watanabe K; Yamaguchi Y; Marynen P; David G
GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.
Genomics 1998;53(1):1-11.
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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.
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1998: Vermeesch J R; Falzetti D; Van Buggenhout G; Fryns J P; Marynen P
Chromosome healing of constitutional chromosome deletions studied by microdissection.
Cytogenetics and cell genetics 1998;81(1):68-72.
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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.
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1997: Dierlamm J; Wlodarska I; Michaux L; Vermeesch J R; Meeus P; Stul M; Criel A; Verhoef G; Thomas J; Delannoy A; Louwagie A; Cassiman J J; Mecucci C; Hagemeijer A; Van den Berghe H
FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12.
Genes, chromosomes & cancer 1997;20(2):155-66.
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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.
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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.
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1997: Veugelers M; Vermeesch J; Reekmans G; Steinfeld R; Marynen P; David G
Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family.
Genomics 1997;40(1):24-30.
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1997: Vermeesch J R; Petit P; Kermouni A; Renauld J C; Van Den Berghe H; Marynen P
The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y.
Human molecular genetics 1997;6(1):1-8.
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1996: Vermeesch J R; De Meurichy W; Van Den Berghe H; Marynen P; Petit P
Differences in the distribution and nature of the interstitial telomeric (TTAGGG)n sequences in the chromosomes of the Giraffidae, okapai (Okapia johnstoni), and giraffe (Giraffa camelopardalis): evidence for ancestral telomeres at the okapi polymorphic rob(5;26) fusion site.
Cytogenetics and cell genetics 1996;72(4):310-5.
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1995: Kermouni A; Van Roost E; Arden K C; Vermeesch J R; Weiss S; Godelaine D; Flint J; Lurquin C; Szikora J P; Higgs D R
The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter.
Genomics 1995;29(2):371-82.
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1995: Vermeesch J R; Mertens G; David G; Marynen P
Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization.
Genomics 1995;25(1):327-9.
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1995: Aerssens J; Guo C; Vermeesch J; Baens M; Browne D; Litt M; Van Den Berghe H; Marynen P
A physical map of the region spanning the chromosome 12 translocation breakpoint in a mesothelioma with a t(X;12)(q22;p13).
Cytogenetics and cell genetics 1995;71(3):268-75.
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