Publications by authors named "Ben Hamel"

83Publications

Paroxysmal Kinesigenic Dyskinesia: First Molecularly Confirmed Case from Africa.

Tremor Other Hyperkinet Mov (N Y) 2019 10;10. Epub 2020 Jan 10.

Department of Human Genetics, Radboud University Medical Center, GA Nijmegen, NL.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7916/tohm.v0.742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6982423PMC
January 2020

Ellis-van Creveld syndrome in a patient from Tanzania.

Am J Med Genet A 2019 10 26;179(10):2034-2038. Epub 2019 Jul 26.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61309DOI Listing
October 2019

Camurati-Engelmann disease: a case report from sub-Saharan Africa.

Oxf Med Case Reports 2018 Jul 17;2018(7):omy036. Epub 2018 Jul 17.

Postgraduate Office, Kilimanjaro Christian Medical University College, Moshi, Tanzania.

View Article

Download full-text PDF

Source
https://academic.oup.com/omcr/article/doi/10.1093/omcr/omy03
Publisher Site
http://dx.doi.org/10.1093/omcr/omy036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6049015PMC
July 2018

Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation.

Pan Afr Med J 2015 24;22:299. Epub 2015 Nov 24.

Department of Human Genetics, Radboud university medical center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11604/pamj.2015.22.299.8032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769042PMC
December 2016

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.

J Clin Endocrinol Metab 2014 Oct 17;99(10):E2067-75. Epub 2014 Jul 17.

Division of Pediatric Endocrinology (A.K.T., E.M., F.G., N.O.M., B.Y.) and Department of Neurology (A.F.K.), Faculty of Medicine, and Department of Biotechnology (A.K.T., L.D.K., M.B.K.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Division of Neuroscience (A.L., G.A.D., S.R.O.), Oregon National Primate Research Centre, Beaverton, Oregon 97006; Oregon Institute of Occupational Health Sciences (D.K., M.C.), Oregon Health and Science University, Portland, Oregon 97239; Laboratories for Integrative Neuroscience and Endocrinology (C.A.M.), School of Clinical Sciences, University of Bristol, Bristol, United Kingdom BS1 3NY; Department of Human Genetics (B.C.H.), Nijmegen Medical Centre, Radboud University, Nijmegen, The Netherlands 6525 GA; Departments of Endocrinology and Metabolism (M.G.) and Pediatric Endocrinology and Metabolism (E.D.P., E.E.), School of Medicine, Uludag University, Bursa, Turkey 16110; and Department of Cell Biology, Physiology, and Immunology (J.M.C.), University of Cordoba, Cordoba, Spain 14071.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-1836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393493PMC
October 2014

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

Indian J Hum Genet 2013 Apr;19(2):171-8

Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University, Semarang, Indonesia ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758723PMC
http://dx.doi.org/10.4103/0971-6866.116118DOI Listing
April 2013

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Eur J Hum Genet 2014 Apr 31;22(4):480-5. Epub 2013 Jul 31.

1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953899PMC
April 2014

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.

Singapore Med J 2013 Mar;54(3):e72-5

Centre for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Dr Sutomo 14, Semarang, Indonesia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11622/smedj.2013055DOI Listing
March 2013

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.

Case Rep Genet 2012 10;2012:247683. Epub 2012 Dec 10.

Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 2240, Moshi, Tanzania ; Department of Paediatrics and Child Health, Kilimanjaro Christian Medical University College, P.O. Box 2240, Moshi, Tanzania.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2012/247683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529426PMC
January 2013

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient.

Case Rep Genet 2012 1;2012:949507. Epub 2012 Dec 1.

Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University GSG, 2nd Floor Jl. Dr. Sutomo 14, Semarang, Indonesia ; Department of Human Genetics, 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/10.1155/2012/949507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822PMC
December 2012

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.

Gene 2012 Dec 17;511(2):451-4. Epub 2012 Sep 17.

Department of Human Genetics, 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/10.1016/j.gene.2012.09.018DOI Listing
December 2012

A cytogenetic study in a large population of intellectually disabled Indonesians.

Genet Test Mol Biomarkers 2012 May 22;16(5):412-7. Epub 2011 Dec 22.

Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University GSG, Semarang, Indonesia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2011.0157DOI Listing
May 2012

Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.

Clin Dysmorphol 2012 Jan;21(1):15-8

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32834c4bb7DOI Listing
January 2012

The clinical spectrum of complete FBN1 allele deletions.

Eur J Hum Genet 2011 Mar 10;19(3):247-52. Epub 2010 Nov 10.

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2010.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061999PMC
March 2011

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome.

Semin Arthritis Rheum 2010 Dec 30;40(3):267-74. Epub 2009 Oct 30.

Neuromuscular Centre Nijmegen, Department of Neurology, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semarthrit.2009.08.003DOI Listing
December 2010

Neuromuscular involvement in various types of Ehlers-Danlos syndrome.

Ann Neurol 2009 Jun;65(6):687-97

Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ana.21643
Publisher Site
http://dx.doi.org/10.1002/ana.21643DOI Listing
June 2009

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Am J Med Genet A 2009 Feb;149A(4):760-6

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32742DOI Listing
February 2009

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.

Eur J Hum Genet 2007 Sep 13;15(9):930-5. Epub 2007 Jun 13.

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

View Article

Download full-text PDF

Source
http://www.nature.com/articles/5201865
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201865DOI Listing
September 2007

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.

Am J Med Genet A 2006 Nov;140(22):2387-93

Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31495DOI Listing
November 2006

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.

Am J Med Genet A 2006 Oct;140(20):2248-50

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31452
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31452DOI Listing
October 2006

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

Eur J Hum Genet 2007 Jan 13;15(1):68-75. Epub 2006 Sep 13.

Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201714DOI Listing
January 2007

Pattern of p63 mutations and their phenotypes--update.

Am J Med Genet A 2006 Jul;140(13):1396-406

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31271
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31271DOI Listing
July 2006

Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution.

Eur J Med Genet 2006 Mar-Apr;49(2):135-9. Epub 2005 Aug 11.

Department of Medical Genetics, Rikshospitalet, Forskningsveien 2B, 0407 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2005.06.005DOI Listing
April 2009

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Otol Neurotol 2005 Jan;26(1):52-8

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00129492-200501000-00009DOI Listing
January 2005

X-linked mental retardation.

Nat Rev Genet 2005 Jan;6(1):46-57

Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrg1501DOI Listing
January 2005

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

Nat Genet 2004 Sep 8;36(9):955-7. Epub 2004 Aug 8.

Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1407DOI Listing
September 2004

Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis.

Eur J Pediatr 2004 Oct;163(10):612-8

Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00431-004-1502-1
Publisher Site
http://dx.doi.org/10.1007/s00431-004-1502-1DOI Listing
October 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

Novel mutations in three patients with LGMD2C with phenotypic differences.

Pediatr Neurol 2004 Apr;30(4):291-4

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2003.11.006DOI Listing
April 2004

Genetic variants in ZIC1, ZIC2, and ZIC3 are not major risk factors for neural tube defects in humans.

Am J Med Genet A 2004 Jan;124A(1):40-7

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.20402
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.20402DOI Listing
January 2004

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Eur J Hum Genet 2004 Jan;12(1):24-8

Department of Human Genetics, University Medical Centre St Radboud, PO Box 9101, Nijmegen 6500 HB, The Netherlands.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/5201080
Publisher Site
http://dx.doi.org/10.1038/sj.ejhg.5201080DOI Listing
January 2004

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Trends Genet 2003 Jun;19(6):316-20

Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73, D-14195 Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S0168-9525(03)00113-6DOI Listing
June 2003

P63 gene mutations and human developmental syndromes.

Am J Med Genet 2002 Oct;112(3):284-90

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10778DOI Listing
October 2002

FGFs, their receptors, and human limb malformations: clinical and molecular correlations.

Am J Med Genet 2002 Oct;112(3):266-78

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10775DOI Listing
October 2002

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Am J Med Genet 2002 Jul;110(3):243-7

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10446DOI Listing
July 2002

Low frequency of MECP2 mutations in mentally retarded males.

Eur J Hum Genet 2002 Aug;10(8):487-90

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5200836DOI Listing
August 2002