Publications by authors named "Maureen Holvoet"

13Publications

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

Authors:
Mio Aerden Marijke Bauters Kris Van Den Bogaert Joris R Vermeesch Maureen Holvoet Frank Plasschaert Koenraad Devriendt

Eur J Med Genet 2020 Nov 3;63(11):104009. Epub 2020 Aug 3.

Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium. Electronic address:

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November 2020

mutation in three siblings with familial hereditary spastic paraplegia.

Authors:
Leila Dardour Filip Roelens Valerie Race Erika Souche Maureen Holvoet Koen Devriendt

Cold Spring Harb Mol Case Stud 2017 07 5;3(4). Epub 2017 Jul 5.

Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.

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July 2017

Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.

Authors:
Leila Dardour Pieter Verleyen Karl Lesage Maureen Holvoet Koen Devriendt

Eur J Med Genet 2016 Oct 12;59(10):499-501. Epub 2016 Sep 12.

Center for Human Genetics, KU Leuven, Leuven, Belgium. Electronic address:

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October 2016

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Authors:
Nathalie Fieremans Hilde Van Esch Maureen Holvoet Gert Van Goethem Koenraad Devriendt Monica Rosello Sonia Mayo Francisco Martinez Shalini Jhangiani Donna M Muzny Richard A Gibbs James R Lupski Joris R Vermeesch Peter Marynen Guy Froyen

Hum Mutat 2016 08 25;37(8):804-11. Epub 2016 May 25.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Belgium.

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August 2016

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Authors:
Raman Kumar Mark A Corbett Bregje W M Van Bon Alison Gardner Joshua A Woenig Lachlan A Jolly Evelyn Douglas Kathryn Friend Chuan Tan Hilde Van Esch Maureen Holvoet Martine Raynaud Michael Field Melanie Leffler Bartłomiej Budny Marzena Wisniewska Magdalena Badura-Stronka Anna Latos-Bieleńska Jacqueline Batanian Jill A Rosenfeld Lina Basel-Vanagaite Corinna Jensen Melanie Bienek Guy Froyen Reinhard Ullmann Hao Hu Michael I Love Stefan A Haas Pawel Stankiewicz Sau Wai Cheung Anne Baxendale Jillian Nicholl Elizabeth M Thompson Eric Haan Vera M Kalscheuer Jozef Gecz

Hum Mol Genet 2015 Dec 6;24(25):7171-81. Epub 2015 Oct 6.

School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia,

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December 2015

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

Authors:
Joke Vandewalle Marijke Bauters Hilde Van Esch Stefanie Belet Jelle Verbeeck Nathalie Fieremans Maureen Holvoet Jodie Vento Ana Spreiz Dieter Kotzot Edda Haberlandt Jill Rosenfeld Joris Andrieux Bruno Delobel Marie-Bertille Dehouck Koen Devriendt Jean-Pierre Fryns Peter Marynen Amy Goldstein Guy Froyen

Hum Genet 2013 Oct 20;132(10):1177-85. Epub 2013 Jun 20.

Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.

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October 2013

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Authors:
Mala Isrie Vera M Kalscheuer Maureen Holvoet Nathalie Fieremans Hilde Van Esch Koenraad Devriendt

Eur J Med Genet 2013 Jul 27;56(7):379-82. Epub 2013 May 27.

Center for Human Genetics, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000 Leuven, Belgium.

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July 2013

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Authors:
Janneke H M Schuurs-Hoeijmakers Edwin C Oh Lisenka E L M Vissers Mariëlle E M Swinkels Christian Gilissen Michèl A Willemsen Maureen Holvoet Marloes Steehouwer Joris A Veltman Bert B A de Vries Hans van Bokhoven Arjan P M de Brouwer Nicholas Katsanis Koenraad Devriendt Han G Brunner

Am J Hum Genet 2012 Dec 15;91(6):1122-7. Epub 2012 Nov 15.

Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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December 2012

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.

Authors:
Gijs W E Santen Yu Sun Antoinet C J Gijsbers Aurore Carré Maureen Holvoet Arie van Haeringen Saskia A J Lesnik Oberstein Akemi Tomoda Hiroyo Mabe Michel Polak Koenraad Devriendt Claudia A L Ruivenkamp Emilia K Bijlsma

J Med Genet 2012 Jun 25;49(6):366-72. Epub 2012 May 25.

Center for Human and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, Postbus 9600, Leiden 2300 RC, The Netherlands.

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June 2012

A microduplication of CBP in a patient with mental retardation and a congenital heart defect.

Authors:
Bernard Thienpont Jeroen Breckpot Maureen Holvoet Joris R Vermeesch Koen Devriendt

Am J Med Genet A 2007 Sep;143A(18):2160-4

Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

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September 2007

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

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

Eur J Med Genet 2005 Apr-Jun;48(2):145-52. Epub 2005 Feb 12.

Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium.

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September 2005

Atypical presentation of the Prader-Willi syndrome. Mosaic trisomy 15?

Authors:
Annick Vogels Maureen Holvoet Mie-Jef Descheemaeker Jean-Pierre Fryns Koen Devriendt

Ann Genet 2002 Jan-Mar;45(1):1-3

Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium

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October 2002

Glypican 1 gene: good candidate for brachydactyly type E.

Authors:
Maria Syrrou Katelÿne Keymolen Koen Devriendt Maureen Holvoet Reinhilde Thoelen K Verhofstadt Jean-Pierre Fryns

Am J Med Genet 2002 Apr;108(4):310-4

Center for Human Genetics, University of Leuven, Leuven, Belgium.

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April 2002