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Maureen Holvoet

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Bernard Thienpont; Jeroen Breckpot; Maureen Holvoet; Joris R Vermeesch; koenraad devriendt
A microduplication of CBP in a patient with mental retardation and a congenital heart defect.
Hilde Van Esch; Ginevra Zanni; Maureen Holvoet; Martine Borghgraef; Jamel Chelly; Jean-Pierre Fryns; koenraad devriendt
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
Hilde Van Esch; Karine Poirier; F de Zegher; Maureen Holvoet; Thierry Bienvenu; Jamel Chelly; koenraad devriendt; J-P Fryns
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.

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All Publications

2007: Bernard Thienpont; Jeroen Breckpot; Maureen Holvoet; Joris R Vermeesch; koenraad devriendt
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.
2005: Hilde Van Esch; Ginevra Zanni; Maureen Holvoet; Martine Borghgraef; Jamel Chelly; Jean-Pierre Fryns; koenraad devriendt
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.
2004: Hilde Van Esch; Karine Poirier; F de Zegher; Maureen Holvoet; Thierry Bienvenu; Jamel Chelly; koenraad devriendt; J-P Fryns
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
Clinical genetics 2004;65(6):503-5.
2004: T Lukusa; Joris R Vermeesch; Maureen Holvoet; Jean-Pierre Fryns; koenraad devriendt
Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder.
Genetic counseling (Geneva, Switzerland) 2004;15(3):293-301.
2003: T Lukusa; Maureen Holvoet; Joris R Vermeesch; koenraad devriendt; Jean-Pierre Fryns
Partial monosomy 11q and trisomy 12q: variable expression in two siblings.
Genetic counseling (Geneva, Switzerland) 2003;14(2):155-64.
2002: Maria Syrrou; Kathelijn Keymolen; koenraad devriendt; Maureen Holvoet; Reinhilde Thoelen; K Verhofstadt; Jean-Pierre Fryns
Glypican 1 gene: good candidate for brachydactyly type E.
American journal of medical genetics 2002;108(4):310-4.
2002: Annick Vogels; Maureen Holvoet; Mie-Jef Descheemaeker; Jean-Pierre Fryns; koenraad devriendt
Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?
Annales de génétique 2002;45(1):1-3.
2000: Philippe Debeer; Eric F P M Schoenmakers; Reinhilde Thoelen; Maureen Holvoet; T Kuittinen; Guy Fabry; Jean-Pierre Fryns; Frances R Goodman; Wim J M Van De Ven
Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint.
European journal of human genetics : EJHG 2000;8(8):561-70.
2000: Annick Vogels; koenraad devriendt; Joris R Vermeesch; R Van Dael; Peter Marynen; P Dewaele; J Hageman; Maureen Holvoet; Jean-Pierre Fryns
Cryptic translocation t(5;18) in familial mental retardation.
Annales de génétique 2000;43(3-4):117-23.
2000: T Lukusa; koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
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: Stephan J Claes; P Volcke; koenraad devriendt; Maureen Holvoet; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
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: koenraad devriendt; Maureen Holvoet; J P Fryns
Follow-up of an adult with Keutel syndrome.
American journal of medical genetics 1999;85(1):82-3.
1999: Hilde Van Esch; Peter Groenen; S Daw; A Poffyn; Maureen Holvoet; P Scambler; Jean-Pierre Fryns; Wim Van de Ven; koenraad devriendt
Partial DiGeorge syndrome in two patients with a 10p rearrangement.
Clinical genetics 1999;55(4):269-76.
1999: koenraad devriendt; Gert Matthijs; Maureen Holvoet; Eric F P M Schoenmakers; Jean-Pierre Fryns
Triplication of distal chromosome 10q.
Journal of medical genetics 1999;36(3):242-5.
1998: T Lukusa; koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
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: koenraad devriendt; Maureen Holvoet; Jean-Pierre Fryns
Further delineation of the KBG syndrome.
Genetic counseling (Geneva, Switzerland) 1998;9(3):191-4.
1997: Stephan J Claes; Annick Vogels; Maureen Holvoet; koenraad devriendt; Petra Raeymaekers; Jean-Jacques Cassiman; Jean-Pierre Fryns
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: I Claeys; Maureen Holvoet; Benedicte Eyskens; P Adriaensens; Marc Gewillig; Jean-Pierre Fryns; koenraad devriendt
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: koenraad devriendt; Patrice X. PETIT; Gert Matthijs; Joris R Vermeesch; Maureen Holvoet; A De Muelenaere; Peter Marynen; Jean-Jacques Cassiman; Jean-Pierre Fryns
Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.
Journal of medical genetics 1997;34(5):395-9.
1996: D Soekarman; P Volcke; Eric Legius; Maureen Holvoet; J P Fryns
Marden-Walker phenotype: a diagnostic dilemma.
Genetic counseling (Geneva, Switzerland) 1996;7(1):31-9.
1991: M Haspeslagh; J P Fryns; Maureen Holvoet; G Collen; G Dierck; J Baeke; Herman Van Den Berghe
A clinical, cytogenetic and familial study of 307 mentally retarded, institutionalized, adult male patients with special interest for fra(X) negative X-linked mental retardation.
Clinical genetics 1991;39(6):434-41.