Publications by authors named "Jan M Cobben"

25Publications

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

Eur J Med Genet 2017 Oct 27;60(10):536-540. Epub 2017 Jul 27.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands; Department of Medical Genetics, St George's University of London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.07.011DOI Listing
October 2017

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

J Child Neurol 2016 12 12;31(14):1598-1601. Epub 2016 Sep 12.

Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073816666474DOI Listing
December 2016

A de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension.

J Hepatol 2016 Apr 30;64(4):974-7. Epub 2015 Nov 30.

Department of Pediatric Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jhep.2015.11.027DOI Listing
April 2016

Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.

JAMA Dermatol 2015 Jun;151(6):675-7

Department of Pediatrics, Academic Medical Center (AMC) University Hospital, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamadermatol.2014.4900DOI Listing
June 2015

Pectus excavatum and carinatum.

Eur J Med Genet 2014 Aug 10;57(8):414-7. Epub 2014 May 10.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.04.017DOI Listing
August 2014

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

Mol Genet Metab 2014 Mar 26;111(3):404-407. Epub 2013 Sep 26.

Department of Pediatric Neurology, Clinical Genetics, Metabolic Disorders, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.09.014DOI Listing
March 2014

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3).

Clin Dysmorphol 2013 Jul;22(3):106-8

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e328363025cDOI Listing
July 2013

[Osteogenesis imperfecta: clinical and genetic heterogeneity].

Ned Tijdschr Geneeskd 2012 ;156(21):A4585

VU medisch centrum, afd. Klinische Genetica, Amsterdam.

View Article

Download full-text PDF

Source
July 2012

Complete COL1A1 allele deletions in osteogenesis imperfecta.

Genet Med 2010 Nov;12(11):736-41

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e3181f01617DOI Listing
November 2010

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

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings.

Pediatr Dev Pathol 2011 May-Jun;14(3):228-34. Epub 2010 Oct 14.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2350/10-03-0806-CR.1DOI Listing
October 2011

Osteogenesis imperfecta, normal collagen folding, and lack of cyclophilin B.

N Engl J Med 2010 May;362(20):1940-1; author reply 1941-2

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1002797DOI Listing
May 2010

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Am J Med Genet A 2008 Dec;146A(23):3058-61

Department of Pediatrics, Emma Children's Hospital, AMC Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32566DOI Listing
December 2008

Cross talk of respiratory muscles It is possible to distinguish different muscle activity?

Respir Physiol Neurobiol 2007 Aug 7;158(1):1-2;author reply 3-4. Epub 2007 Apr 7.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.resp.2007.03.014DOI Listing
August 2007

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.

Hum Genet 2004 Feb 6;114(3):284-90. Epub 2003 Nov 6.

Centre for Medical Genetics, Ghent University Hospital, De Pintelaan 185-0K5, 9000 Ghent, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-003-1047-9DOI Listing
February 2004