Publications by authors named "Maureen Holvoet"

13Publications

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

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.

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.

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

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

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.

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

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

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.

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?

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

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

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October 2002