Ben C J Hamel

Ben C J Hamel

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Ben C J Hamel

Ben C J Hamel

Publications by authors named "Ben C J Hamel"

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Ellis-van Creveld syndrome in a patient from Tanzania.

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

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

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

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.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758723PMC
April 2013

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.

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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.

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

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.

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http://dx.doi.org/10.1016/j.gene.2012.09.018DOI Listing
December 2012

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.

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http://dx.doi.org/10.1155/2012/949507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822PMC
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.

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

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

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.

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http://doi.wiley.com/10.1002/ana.21643
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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.

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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.

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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.

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http://www.nature.com/articles/5201865
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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.

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

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.

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

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.

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http://link.springer.com/10.1007/s00431-004-1502-1
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http://dx.doi.org/10.1007/s00431-004-1502-1DOI Listing
October 2004

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.

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

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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.

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

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

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.

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

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.

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

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

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