Geert R Mortier

Geert R Mortier

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Geert R Mortier

Geert R Mortier

Publications by authors named "Geert R Mortier"

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36Publications

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Regulation of body and brain size: role of MAP4 and other centrosomal proteins.

Authors:
Geert R Mortier

Hum Mutat 2015 Jan;36(1)

Antwerp University Hospital, University of Antwerp and Ghent University, Belgium.

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http://dx.doi.org/10.1002/humu.22639DOI Listing
January 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Am J Med Genet A 2014 Apr 29;164A(4):898-906. Epub 2014 Jan 29.

Division of Medical Genetics, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.

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http://doi.wiley.com/10.1002/ajmg.a.36367
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http://dx.doi.org/10.1002/ajmg.a.36367DOI Listing
April 2014

Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome.

Am J Med Genet A 2008 May;146A(10):1330-4

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.32267DOI Listing
May 2008

Czech dysplasia metatarsal type: another type II collagen disorder.

Eur J Hum Genet 2007 Dec 29;15(12):1269-75. Epub 2007 Aug 29.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201913DOI Listing
December 2007

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

Am J Med Genet A 2007 Dec;143A(24):2973-80

Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.31957DOI Listing
December 2007

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

Am J Med Genet A 2007 Dec;143A(24):3144-9

Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.31966DOI Listing
December 2007

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Eur J Hum Genet 2007 Jul 18;15(7):743-51. Epub 2007 Apr 18.

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

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http://dx.doi.org/10.1038/sj.ejhg.5201833DOI Listing
July 2007

Stickler syndrome type I and Stapes ankylosis.

Int J Pediatr Otorhinolaryngol 2004 Dec;68(12):1573-80

Department of Otorhinolaryngology Head and Neck Surgery, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2004.07.015DOI Listing
December 2004

Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome.

Pediatr Pathol Mol Med 2003 Jan-Feb;22(1):23-35

Departments of Pediatrics & Medical Genetics, Ghent University Hospital, 185 De Pintelaan, B-9000 Ghent, Belgium.

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June 2003

Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.

Pediatr Pathol Mol Med 2003 Jan-Feb;22(1):53-75

Wellcome Trust Centre for Cell-Matrix Research, School of Biological Sciences, University of Manchester, 2.205 Stopford Building, Oxford Road, Manchester, M13 9PT, UK.

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June 2003

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

Hum Mol Genet 2002 Apr;11(7):853-60

Department of Psychological Medicine and Department of Medical Genetics, University of Wales College of Medicine, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/hmg/11.7.853DOI Listing
April 2002