Lies H Hoefsloot

Lies H Hoefsloot

UNVERIFIED PROFILE

Are you Lies H Hoefsloot?   Register this Author

Register author
Lies H Hoefsloot

Lies H Hoefsloot

Publications by authors named "Lies H Hoefsloot"

Are you Lies H Hoefsloot?   Register this Author

90Publications

2574Reads

27Profile Views

Mucolipidosis type III, a series of adult patients.

J Inherit Metab Dis 2018 09 27;41(5):839-848. Epub 2018 Apr 27.

Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-018-0186-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133174PMC
September 2018

The Immune Phenotype of Patients with CHARGE Syndrome.

J Allergy Clin Immunol Pract 2016 Jan-Feb;4(1):96-103.e2. Epub 2015 Nov 7.

Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2015.09.004DOI Listing
October 2016

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.

Mol Vis 2015 15;21:285-92. Epub 2015 Mar 15.

Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360166PMC
September 2015

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Eur J Hum Genet 2015 Feb 30;23(2):189-94. Epub 2014 Apr 30.

1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297911PMC
February 2015

Early-onset stargardt disease: phenotypic and genotypic characteristics.

Ophthalmology 2015 Feb 17;122(2):335-44. Epub 2014 Oct 17.

Department of Ophthalmology, Radboud university medical center, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2014.08.032DOI Listing
February 2015

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.

Am J Med Genet A 2014 Dec 24;164A(12):3003-9. Epub 2014 Sep 24.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36747DOI Listing
December 2014

Foveal sparing in Stargardt disease.

Invest Ophthalmol Vis Sci 2014 Oct 16;55(11):7467-78. Epub 2014 Oct 16.

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://iovs.arvojournals.org/data/Journals/IOVS/933042/i1552
Web Search
http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
Publisher Site
http://dx.doi.org/10.1167/iovs.13-13825DOI Listing
October 2014

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023223PMC
June 2014

Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause.

J Clin Endocrinol Metab 2014 Apr 13;99(4):1107-11. Epub 2014 Jan 13.

Department of Internal Medicine (N.C.-O., L.O., M.C.Z.), Erasmus MC, 3015 CE Rotterdam, The Netherlands; Department of Human Genetics (L.H.H.), Radboud Medical Center, 6500 HC Nijmegen, The Netherlands; Department of Internal Medicine (R.M.K.), Albert Schweitzer Hospital, 3318 AT Dordrecht, The Netherlands; and Departments of Ophthalmology (C.C.W.K.) and Clinical Genetics (M.E.H.S.), Erasmus MC, 3015 CE Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2013-3238DOI Listing
April 2014

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Ophthalmology 2013 Dec 29;120(12):2697-2705. Epub 2013 Sep 29.

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2013.07.052DOI Listing
December 2013

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Eur J Hum Genet 2013 Nov 22;21(11):1325-9. Epub 2013 May 22.

Department of Human Genetics, Radboud University MC, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798855PMC
November 2013

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

Gene 2013 Apr 9;519(1):177-81. Epub 2013 Feb 9.

Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.01.047DOI Listing
April 2013

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Hum Mutat 2012 Aug 16;33(8):1149-60. Epub 2012 Apr 16.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22086DOI Listing
August 2012

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Hum Mutat 2012 Aug 11;33(8):1251-60. Epub 2012 May 11.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22106DOI Listing
August 2012

Clinical and genetic characteristics of late-onset Stargardt's disease.

Ophthalmology 2012 Jun 24;119(6):1199-210. Epub 2012 Mar 24.

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2012.01.005DOI Listing
June 2012

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

J Clin Endocrinol Metab 2012 May 7;97(5):E858-62. Epub 2012 Mar 7.

Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2011-2652DOI Listing
May 2012

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Eur J Hum Genet 2012 Mar 19;20(3):263-70. Epub 2011 Oct 19.

Department of Physiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2011.189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283182PMC
March 2012

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Mol Cytogenet 2012 Jan 27;5(1). Epub 2012 Jan 27.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8166-5-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293020PMC
January 2012

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

J Assoc Res Otolaryngol 2011 Dec 23;12(6):753-66. Epub 2011 Jul 23.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10162-011-0282-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214237PMC
December 2011

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

J Pediatr 2011 Mar;158(3):474-9

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2010.08.032DOI Listing
March 2011

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

Ann Otol Rhinol Laryngol 2011 Mar;120(3):191-7

Department of Otorhinolaryngology, Donders Center for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/000348941112000308DOI Listing
March 2011

SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma.

Clin Cancer Res 2011 Jan 11;17(2):247-54. Epub 2011 Jan 11.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/1078-0432.CCR-10-0420DOI Listing
January 2011

Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

Am J Med Genet A 2010 Oct;152A(10):2666-9

Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33650
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33650DOI Listing
October 2010

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Hum Mol Genet 2010 Jul 7;19(14):2858-66. Epub 2010 May 7.

Institute of Human Genetics, University of Göttingen, 37073 Göttingen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq189DOI Listing
July 2010

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

Am J Hum Genet 2010 Apr 25;86(4):604-10. Epub 2010 Mar 25.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2010.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850434PMC
April 2010

Distal femoral duplication and fibular agenesis associated with congenital cardiac defect.

Indian J Pediatr 2010 Feb 11;77(2):210-1. Epub 2009 Dec 11.

Faculty of Medicine, Department of Pediatrics, Karadeniz Technical University, Trabzon, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-009-0228-5DOI Listing
February 2010

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Am J Hum Genet 2010 Feb 4;86(2):138-47. Epub 2010 Feb 4.

Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820176PMC
February 2010

Outcome of ABCA4 microarray screening in routine clinical practice.

Mol Vis 2009 Dec 20;15:2841-7. Epub 2009 Dec 20.

1Department of Ophthalmology, University Hospital Maastricht, Maastricht, The Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2796636PMC
December 2009

Congenital T cell deficiency in a patient with CHARGE syndrome.

J Pediatr 2009 Jan;154(1):140-2

McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2008.07.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4293037PMC
January 2009

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):417-25. Epub 2008 Apr 4.

Department of Genetics, University Medical Center Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2008.03.003DOI Listing
November 2008

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.

Eur J Hum Genet 2008 Oct 16;16(10):1240-4. Epub 2008 Apr 16.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg200883
Publisher Site
http://dx.doi.org/10.1038/ejhg.2008.83DOI Listing
October 2008

L1 retrotransposition can occur early in human embryonic development.

Hum Mol Genet 2007 Jul 4;16(13):1587-92. Epub 2007 May 4.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddm108DOI Listing
July 2007

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Ann Otol Rhinol Laryngol 2007 May;116(5):349-57

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/000348940711600506DOI Listing
May 2007

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.

Audiol Neurootol 2007 6;12(2):77-84. Epub 2006 Dec 6.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000097794DOI Listing
February 2007

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.

Int J Pediatr Otorhinolaryngol 2005 Feb;69(2):165-74

Department of Epidemiology and Biostatistics, Genetic Epidemiology Unit, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2004.08.015DOI Listing
February 2005

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.

Ann Otol Rhinol Laryngol 2004 Jul;113(7):587-93

Department of Otorhinolaryngology, University Hospitals Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/000348940411300714DOI Listing
July 2004

Mutations in the human TBX4 gene cause small patella syndrome.

Am J Hum Genet 2004 Jun 21;74(6):1239-48. Epub 2004 Apr 21.

Department of Human Genetics, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/421331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182087PMC
June 2004

Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint.

J Neurol 2003 Nov;250(11):1307-12

Neuromuscular Centre Nijmegen, Dept. of Neurology, University Medical Centre Nijmegen, 9101, 6500 HB, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-003-0201-6
Publisher Site
http://dx.doi.org/10.1007/s00415-003-0201-6DOI Listing
November 2003

Chromosomal region 11p15 is associated with male factor subfertility.

Mol Hum Reprod 2003 Oct;9(10):587-92

Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/molehr/gag081DOI Listing
October 2003

CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

J Clin Endocrinol Metab 2003 Aug;88(8):3852-9

Department of Pediatric Endocrinology, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2002-021681DOI Listing
August 2003

Molecular diagnosis of hereditary hearing impairment.

Adv Otorhinolaryngol 2002 ;61:11-27

Department of Otorhinolaryngology, University Medical Center Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
February 2003

Hearing loss and connexin 26.

J R Soc Med 2002 Apr;95(4):171-7

Department of Otorhinolaryngology, University Medical Centre St Radboud, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1279509PMC
http://dx.doi.org/10.1258/jrsm.95.4.171DOI Listing
April 2002