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Edwin Reyniers

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Nathalie Van der Aa; Geert Vandeweyer; Lina Dom; Sandra Kenis; Geert Mortier; Edwin Reyniers; Liesbeth Rooms; R Frank Kooy
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
Geert Vandeweyer; Edwin Reyniers; Nathalie Van der Aa; R Frank Kooy
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
Liesbeth Rooms; Geert Vandeweyer; Edwin Reyniers; Kurt van Mol; Ilse de Canck; Nathalie Van der Aa; Rudi Rossau; R Frank Kooy
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.

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2012: Nathalie Van der Aa; Geert Vandeweyer; Lina Dom; Sandra Kenis; Geert Mortier; Edwin Reyniers; Liesbeth Rooms; R Frank Kooy
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
Autism research : official journal of the International Society for Autism Research 2012;5(4):277-81.
2012: Geert Vandeweyer; Edwin Reyniers; Nathalie Van der Aa; R Frank Kooy
The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
American journal of human genetics 2012;90(6):1071-8.
2011: Liesbeth Rooms; Geert Vandeweyer; Edwin Reyniers; Kurt van Mol; Ilse de Canck; Nathalie Van der Aa; Rudi Rossau; R Frank Kooy
Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.
American journal of medical genetics. Part A 2011;155A(2):343-8.
2011: Geert Vandeweyer; Edwin Reyniers; Wim Wuyts; Liesbeth Rooms; R Frank Kooy
CNV-WebStore: online CNV analysis, storage and interpretation.
BMC bioinformatics 2011;12():4.
2010: Damien L Bruno; Britt-Marie Anderlid; Anna Lindstrand; Conny van Ravenswaaij-Arts; Devika Ganesamoorthy; Johanna Lundin; Christa Lese Martin; Jessica Douglas; Catherine Nowak; Margaret P Adam; R Frank Kooy; Nathalie Van der Aa; Edwin Reyniers; Geert Vandeweyer; Irene Stolte-Dijkstra; Trijnie Dijkhuizen; Alison Yeung; Martin B Delatycki; Birgit Borgström; Lena Thelin; Carlos Cardoso; Bregje van Bon; Rolph Pfundt; Bert B A de Vries; Anders Wallin; David J Amor; Paul A James; Howard R Slater; Jacqueline Schoumans
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Journal of medical genetics 2010;47(5):299-311.
2009: Nathalie Van der Aa; Liesbeth Rooms; Geert Vandeweyer; Jenneke van den Ende; Edwin Reyniers; Marco Fichera; Corrado Romano; Barbara Delle Chiaie; Geert R Mortier; Björn Menten; Anne Destrée; Isabelle Maystadt; Katrin Männik; Ants Kurg; Tiia Reimand; Dom McMullan; Christine Oley; Louise Brueton; Ernie M H F Bongers; Bregje W M van Bon; Rolph Pfund; Sebastien Jacquemont; Alessandra Ferrarini; Danielle Martinet; Connie Schrander-Stumpel; Alexander P A Stegmann; Suzanna G M Frints; Bert B A de Vries; Berten Ceulemans; R Frank Kooy
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
European journal of medical genetics 2009;52(2-3):94-100.
2008: Yousef Shafeghati; Nima Momenin; Taher Esfahani; Edwin Reyniers; Wim Wuyts
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene.
Archives of Iranian medicine 2008;11(3):330-4.
2008: Berten Ceulemans; Katrien Storm; Edwin Reyniers; Luc Callewaert; Jean-Jacques Martin
Muscle pain as the only presenting symptom in a girl with dystrophinopathy.
Pediatric neurology 2008;38(1):64-6.
2007: Winnie Courtens; Jan Wauters; Marek Wojciechowski; Edwin Reyniers; Stefaan Scheers; Rob van Luijk; Liesbeth Rooms; Frank Kooy; Wim Wuyts
A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
Clinical dysmorphology 2007;16(4):231-9.
2007: Claus Lenski; R Frank Kooy; Edwin Reyniers; Daniela Loessner; Ronald J A Wanders; Birgitta Winnepenninckx; Heide Hellebrand; Stefanie Engert; Charles E Schwartz; Alfons Meindl; Juliane Ramser
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.
American journal of human genetics 2007;80(2):372-7.
2007: Liesbeth Rooms; Edwin Reyniers; R Frank Kooy
Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.
Human mutation 2007;28(2):177-82.
2006: Liesbeth Rooms; Edwin Reyniers; Stefaan Scheers; Rob van Luijk; Jan Wauters; Leen Van Aerschot; Zsuzsanna Callaerts-Vegh; Rudi D'Hooge; Mengus Gabrielle; Irwin Davidson; Winnie Courtens; R Frank Kooy
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
European journal of human genetics : EJHG 2006;14(10):1090-6.
2006: David A Koolen; Lisenka E L M Vissers; Rolph Pfundt; Nicole de Leeuw; Samantha J L Knight; Regina Regan; R Frank Kooy; Edwin Reyniers; Corrado Romano; Marco Fichera; Albert Schinzel; Alessandra Baumer; Britt-Marie Anderlid; Jacqueline Schoumans; Nine V A M Knoers; Ad Geurts van Kessel; Erik A Sistermans; Joris Veltman; Han G Brunner; Bert B A de Vries
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Nature genetics 2006;38(9):999-1001.
2006: Winnie Courtens; Wim Wuyts; Stefaan Scheers; Rob van Luijk; Edwin Reyniers; Liesbeth Rooms; Berten Ceulemans; Frank Kooy; Jan Wauters
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
European journal of medical genetics 2006;49(5):402-13.
2006: Winnie Courtens; Wim Wuyts; Martin Poot; Karoly Szuhai; Jan Wauters; Edwin Reyniers; Marc J Eleveld; George Diaz; Markus M Nöthen; Ruti Parvari
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.
American journal of medical genetics. Part A 2006;140(6):611-7.
2006: Ilse Gantois; Jo Vandesompele; Frank Speleman; Edwin Reyniers; Rudi D'Hooge; Lies-Anne Severijnen; Rob Willemsen; Flora Tassone; R Frank Kooy
Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model.
Neurobiology of disease 2006;21(2):346-57.
2006: Liesbeth Rooms; Edwin Reyniers; Wim Wuyts; Katrien Storm; Rob van Luijk; Stefaan Scheers; Jan Wauters; Jenneke van den Ende; Martine Biervliet; F Eyskens; Gert Van Goethem; Annick Laridon; Berten Ceulemans; Winnie Courtens; R Frank Kooy
Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.
Clinical genetics 2006;69(1):58-64.
2005: Liesbeth Rooms; Edwin Reyniers; R Frank Kooy
Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.
Human mutation 2005;25(6):513-24.
2005: Yolande van Bever; Liesbeth Rooms; Annick Laridon; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; R Frank Kooy
Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.
American journal of medical genetics. Part A 2005;135(1):91-5.
2005: Wim Wuyts; Martine Biervliet; Edwin Reyniers; Maria Rosaria D'Apice; Giuseppe Novelli; Katrien Storm
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
American journal of medical genetics. Part A 2005;135(1):66-8.
2005: Wim Wuyts; Edwin Reyniers; Chantal Ceuterick; Katrien Storm; Thierry de Barsy; Jean-Jacques Martin
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.
American journal of medical genetics. Part A 2005;133A(1):82-4.
2004: Nigel F Clarke; David Mowat; R Frank Kooy; Edwin Reyniers; Rob Willemsen
Fragile X syndrome phenotype with normal FMR1 gene studies.
American journal of medical genetics. Part A 2004;129A(3):326-8.
2004: Liesbeth Rooms; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; R Frank Kooy
Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation.
Annales de génétique 2004;47(1):53-9.
2004: Liesbeth Rooms; Edwin Reyniers; Rob van Luijk; Stefaan Scheers; Jan Wauters; Berten Ceulemans; Jenneke van den Ende; Yolande van Bever; R Frank Kooy
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).
Human mutation 2004;23(1):17-21.
2002: Birgitta Winnepenninckx; Vanessa Errijgers; France Hayez-Delatte; Edwin Reyniers; R Frank Kooy
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
Human mutation 2002;20(4):249-52.
2002: Birgitta Winnepenninckx; Vanessa Errijgers; Edwin Reyniers; Peter Paul De Deyn; fatima abidi; Charles E Schwartz; R Frank Kooy
Family MRX9 revisited: further evidence for locus heterogeneity in MRX.
American journal of medical genetics 2002;112(1):17-22.
2001: Ilse Gantois; Cathy E Bakker; Edwin Reyniers; Rob Willemsen; Rudi D'Hooge; Peter Paul De Deyn; Ben A Oostra; R Frank Kooy
Restoring the phenotype of fragile X syndrome: insight from the mouse model.
Current molecular medicine 2001;1(4):447-55.
2000: Debby Van Dam; Rudi D'Hooge; Esther I Hauben; Edwin Reyniers; Ilse Gantois; Cathy E Bakker; Ben A Oostra; R Frank Kooy; Peter Paul De Deyn
Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice.
Behavioural brain research 2000;117(1-2):127-36.
2000: Elke Holinski-Feder; Edwin Reyniers; Sabine Uhrig; Astrid Golla; Jan Wauters; Peter M Kroisel; P Bossuyt; Imma Rost; Kerry Baldwin Jedele; H Zierler; S Schwab; D Wildenauer; Michael R Speicher; Patrick J Willems; Thomas Meitinger; R Frank Kooy
Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).
American journal of human genetics 2000;66(1):16-25.
1999: Edwin Reyniers; Patrick Van Bogaert; N Peeters; Lieve Vits; F Pauly; Erik Fransen; Nicole Van Regemorter; R Frank Kooy
A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.
American journal of human genetics 1999;65(5):1406-12.
1999: R Frank Kooy; Edwin Reyniers; Katrien Storm; Lieve Vits; D Van Velzen; Petra E de Ruiter; A O Brinkmann; A de Paepe; Patrick J Willems
CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.
American journal of medical genetics 1999;85(3):209-13.
1999: R Frank Kooy; Edwin Reyniers; Marleen Verhoye; Jan Sijbers; Cathy E Bakker; Ben A Oostra; Patrick J Willems; Annemie Van der Linden
Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging.
European journal of human genetics : EJHG 1999;7(5):526-32.
1999: Edwin Reyniers; J J Martin; Patrick cras; E Van Marck; I Handig; H Z Jorens; Ben A Oostra; R Frank Kooy; Patrick J Willems
Postmortem examination of two fragile X brothers with an FMR1 full mutation.
American journal of medical genetics 1999;84(3):245-9.
1998: Erik Fransen; Rudi D'Hooge; Guy Van Camp; Marleen Verhoye; Jan Sijbers; Edwin Reyniers; P Soriano; Hiroyuki Kamiguchi; Rob Willemsen; S K E Koekkoek; Chris I De Zeeuw; Peter Paul De Deyn; Annemie Van der Linden; Vance Lemmon; R Frank Kooy; Patrick J Willems
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.
Human molecular genetics 1998;7(6):999-1009.
1998: Katrien Storm; I Handig; Edwin Reyniers; Ben A Oostra; R Frank Kooy; Patrick J Willems
Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome.
Human genetics 1998;102(1):54-6.
1997: Rudi D'Hooge; Guy Nagels; Frieda Franck; Cathy E Bakker; Edwin Reyniers; Katrien Storm; R Frank Kooy; Ben A Oostra; Patrick J Willems; Peter Paul De Deyn
Mildly impaired water maze performance in male Fmr1 knockout mice.
Neuroscience 1997;76(2):367-76.
1996: Wim Wuyts; Wim Van Hul; J Wauters; M Nemtsova; Edwin Reyniers; Els Van Hul; K De Boulle; Bert B A de Vries; Jan Hendrickx; I Herrygers; PJ Bossuyt; Wendy Balemans; Erik Fransen; Lieve Vits; P Coucke; N J Nowak; T B Shows; L Mallet; Ans M W van den Ouweland; J McGaughran; D J J Halley; Patrick J Willems
Positional cloning of a gene involved in hereditary multiple exostoses.
Human molecular genetics 1996;5(10):1547-57.
1996: Edwin Reyniers; G Wolff; G Tariverdian; K De Boulle; Katrien Storm; R Frank Kooy; Patrick J Willems
Severe mental retardation and macroorchidism without mutation in the FMR1 gene.
American journal of medical genetics 1996;64(2):408-12.
1996: J M Godfraind; Edwin Reyniers; K De Boulle; Rudi D'Hooge; Peter Paul De Deyn; Cathy E Bakker; Ben A Oostra; R Frank Kooy; Patrick J Willems
Long-term potentiation in the hippocampus of fragile X knockout mice.
American journal of medical genetics 1996;64(2):246-51.
1996: R Frank Kooy; Rudi D'Hooge; Edwin Reyniers; Cathy E Bakker; Guy Nagels; K De Boulle; Katrien Storm; G Clincke; Peter Paul De Deyn; Ben A Oostra; Patrick J Willems
Transgenic mouse model for the fragile X syndrome.
American journal of medical genetics 1996;64(2):241-5.
1996: Edwin Reyniers; D R Van Bockstaele; K De Boulle; R Frank Kooy; Cathy E Bakker; Ben A Oostra; Patrick J Willems
Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice.
Human genetics 1996;97(1):49-50.
1995: Edwin Reyniers; M N Van Thienen; Françoise Meire; K De Boulle; K Devries; P Kestelijn; Patrick J Willems
Gene conversion between red and defective green opsin gene in blue cone monochromacy.
Genomics 1995;29(2):323-8.
1995: Wim Wuyts; S Ramlakhan; Wim Van Hul; Jacqueline T Hecht; Ans M W van den Ouweland; Wendy H Raskind; F C Hofstede; Edwin Reyniers; Dan E Wells; Bert B A de Vries
Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.
American journal of human genetics 1995;57(2):382-7.
1994: Albert Beckers; Roger Abs; Edwin Reyniers; K De Boulle; Achille Stevenaert; F R Heller; G Klöppel; Michel Meurisse; P J Willems
Variable regions of chromosome 11 loss in different pathological tissues of a patient with the multiple endocrine neoplasia type I syndrome.
The Journal of clinical endocrinology and metabolism 1994;79(5):1498-502.
1994: Lieve Vits; K De Boulle; Edwin Reyniers; I Handig; J K Darby; Ben A Oostra; Patrick J Willems
Apparent regression of the CGG repeat in FMR1 to an allele of normal size.
Human genetics 1994;94(5):523-6.
1994: Lieve Vits; Guy Van Camp; P Coucke; Erik Fransen; K De Boulle; Edwin Reyniers; B Korn; Annemarie Poustka; G Wilson; C Schrander-Stumpel
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
Nature genetics 1994;7(3):408-13.
1994: Y Q Wu; Peter Heutink; Bert B A de Vries; Lodewijk A Sandkuijl; Ans M W van den Ouweland; Martinus F Niermeijer; H Galjaard; Edwin Reyniers; Patrick J Willems; D J J Halley
Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.
Human molecular genetics 1994;3(1):167-71.
1993: Edwin Reyniers; K De Boulle; D A Marchuk; L B Andersen; Francis S Collins; Patrick J Willems
An EcoRI RFLP in the 5' region of the human NF1 gene.
Human genetics 1993;92(6):631.
1993: S Buyle; Edwin Reyniers; Lieve Vits; K De Boulle; I Handig; Floris L Wuyts; Wout Deelen; D J J Halley; Ben A Oostra; Patrick J Willems
Founder effect in a Belgian-Dutch fragile X population.
Human genetics 1993;92(3):269-72.
1993: A J Verkerk; Esther de Graaff; K De Boulle; Evan E Eichler; D S Konecki; Edwin Reyniers; A Manca; Annemarie Poustka; Patrick J Willems; D L Nelson
Alternative splicing in the fragile X gene FMR1.
Human molecular genetics 1993;2(8):1348.
1993: Edwin Reyniers; Lieve Vits; K De Boulle; B Van Roy; D Van Velzen; Esther de Graaff; A J Verkerk; H Z Jorens; J K Darby; Ben A Oostra
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.
Nature genetics 1993;4(2):143-6.
1993: A J Verkerk; Esther de Graaff; K De Boulle; Evan E Eichler; D S Konecki; Edwin Reyniers; A Manca; Annemarie Poustka; Patrick J Willems; D L Nelson
Alternative splicing in the fragile X gene FMR1.
Human molecular genetics 1993;2(4):399-404.
1993: K De Boulle; A J Verkerk; Edwin Reyniers; Lieve Vits; Jan Hendrickx; B Van Roy; F Van den Bos; Esther de Graaff; Ben A Oostra; Patrick J Willems
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
Nature genetics 1993;3(1):31-5.
1992: Patrick J Willems; B Van Roy; K De Boulle; Lieve Vits; Edwin Reyniers; O Beck; J E Dumon; A Verkerk; Ben A Oostra
Segregation of the fragile X mutation from an affected male to his normal daughter.
Human molecular genetics 1992;1(7):511-5.