Maurice A M van Steensel

Maurice A M van Steensel

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Maurice A M van Steensel

Maurice A M van Steensel

Publications by authors named "Maurice A M van Steensel"

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A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.

Exp Dermatol 2019 Oct 10;28(10):1106-1113. Epub 2018 May 10.

Department of Life Sciences, School of Health and Life Sciences, Glasgow Caledonian University, Glasgow, UK.

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http://dx.doi.org/10.1111/exd.13542DOI Listing
October 2019

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.

Am J Med Genet A 2019 Aug 19;179(8):1652-1664. Epub 2019 Jun 19.

Skin Research Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.61264DOI Listing
August 2019

On the TRAIL to truth, or on a road to nowhere?

Exp Dermatol 2017 03;26(3):225-226

Genetic Dermatology, School of Medicine and School of Life Sciences, University of Dundee, Dundee, UK.

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http://dx.doi.org/10.1111/exd.13231DOI Listing
March 2017

Review of familial cerebral cavernous malformations and report of seven additional families.

Am J Med Genet A 2017 Feb 28;173(2):338-351. Epub 2016 Oct 28.

Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.38028DOI Listing
February 2017

Do shoot the messenger: Taking aim at RNA to treat genetic skin disorders.

Exp Dermatol 2017 01;26(1):22-23

School of Medicine and School of Life Sciences, University of Dundee, Dundee, UK.

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http://dx.doi.org/10.1111/exd.13218DOI Listing
January 2017

The effect of topical diclofenac 3% and calcitriol 3 μg/g on superficial basal cell carcinoma (sBCC) and nodular basal cell carcinoma (nBCC): A phase II, randomized controlled trial.

J Am Acad Dermatol 2016 Jul 7;75(1):126-34. Epub 2016 Apr 7.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; GROW Research Institute for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.jaad.2016.01.050DOI Listing
July 2016

Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.

BMC Dev Biol 2016 07 8;16(1):23. Epub 2016 Jul 8.

School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.

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http://dx.doi.org/10.1186/s12861-016-0119-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939010PMC
July 2016

Locally advanced basal cell carcinoma has a distinct methylation and transcriptomic profile.

Exp Dermatol 2016 Apr 11;25(4):316-8. Epub 2016 Feb 11.

Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/exd.12905DOI Listing
April 2016

Making the invisible visible.

Semin Cell Dev Biol 2016 Apr 10;52:58-65. Epub 2016 Feb 10.

Institute of Medical Biology, Singapore; Division of Cancer Research, School of Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2016.02.013DOI Listing
April 2016

The Growing Spectrum of Cutaneous RASopathy.

J Invest Dermatol 2016 Feb;136(2):359-360

School of Medicine and School of Life Sciences, University of Dundee, Dundee, UK; Institute of Medical Biology, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2015.10.059DOI Listing
February 2016

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.

Exp Dermatol 2015 Nov 21;24(11):883-5. Epub 2015 Aug 21.

Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/exd.12786DOI Listing
November 2015

Comment on Zhao et al. "Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda".

Acta Derm Venereol 2015 Nov;95(8):1034-5

Department of Dermatology, IJsselland Ziekenhuis, 2906ZC Capelle aan den IJssel, The Netherlands.

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http://dx.doi.org/10.2340/00015555-2196DOI Listing
November 2015

Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.

PLoS One 2014 9;9(6):e99071. Epub 2014 Jun 9.

Department of Dermatology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands; Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, The Netherlands; Institute of Medical Biology, Singapore, Singapore.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0099071PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049818PMC
October 2015

Neurocutaneous Manifestations of Genetic Mosaicism.

J Pediatr Genet 2015 Sep 30;4(3):144-53. Epub 2015 Nov 30.

Division of Cancer Science, School of Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, United Kingdom; Institute of Medical Biology, ASTAR, Singapore.

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http://dx.doi.org/10.1055/s-0035-1564441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918718PMC
September 2015

Immunohistochemical analysis of the mechanistic target of rapamycin and hypoxia signalling pathways in basal cell carcinoma and trichoepithelioma.

PLoS One 2014 2;9(9):e106427. Epub 2014 Sep 2.

Department of Dermatology, Maastricht University Medical Centre, Maastricht, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands; GROW, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, the Netherlands; Institute of Medical Biology, Immunos, Singapore, Singapore.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0106427PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152244PMC
May 2015

Novel TGM5 mutations in acral peeling skin syndrome.

Exp Dermatol 2015 Apr;24(4):285-9

Department of Dermatology, Maastricht University Medical Center+, Maastricht, The Netherlands; GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Center+, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/exd.12650DOI Listing
April 2015

Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.

Mol Genet Metab 2015 Jan 4;114(1):51-4. Epub 2014 Nov 4.

Department of Paediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Geert Grooteplein zuid 10, route 801, 6525 GA Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.10.016DOI Listing
January 2015

Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma.

J Am Acad Dermatol 2014 Nov 4;71(5):1005-8. Epub 2014 Sep 4.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.jaad.2014.08.001DOI Listing
November 2014

Birt-Hogg-Dubé syndrome and the skin.

Fam Cancer 2013 Sep;12(3):381-5

Department of Dermatology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1007/s10689-013-9600-8DOI Listing
September 2013

The persistent embryonic vein in Klippel-Trenaunay syndrome.

Vasc Med 2013 Aug;18(4):185-91

Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1177/1358863X13498463DOI Listing
August 2013

Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.

J Invest Dermatol 2012 Sep 17;132(9):2184-91. Epub 2012 May 17.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/jid.2012.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422696PMC
September 2012

Genetics and epigenetics of cutaneous malignant melanoma: a concert out of tune.

Biochim Biophys Acta 2012 Aug 31;1826(1):89-102. Epub 2012 Mar 31.

Department of Pathology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.bbcan.2012.03.011DOI Listing
August 2012

Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis.

Exp Dermatol 2012 Aug 30;21(8):592-8. Epub 2012 May 30.

Department of Life Sciences, School of Health and Life Sciences, Glasgow Caledonian University, Scotland, UK.

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http://dx.doi.org/10.1111/j.1600-0625.2012.01521.xDOI Listing
August 2012

[Conradi-Hünermann-Happle syndrome].

Ned Tijdschr Geneeskd 2012 ;156(10):A4105

VieCuri Medisch Centrum voor Noord-Limburg, afd. Kinderrevalidatie, Venlo, the Netherlands.

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April 2012

A proposal for classification of entities combining vascular malformations and deregulated growth.

Eur J Med Genet 2011 May-Jun;54(3):262-71. Epub 2011 Feb 26.

Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2011.02.007DOI Listing
September 2011

Reorganization of the nuclear lamina and cytoskeleton in adipogenesis.

Histochem Cell Biol 2011 Mar 25;135(3):251-61. Epub 2011 Feb 25.

Department of Dermatology, Maastricht University Medical Centre, P. Debyelaan 25, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

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http://dx.doi.org/10.1007/s00418-011-0792-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3052499PMC
March 2011

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Am J Med Genet A 2010 Oct;152A(10):2612-7

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.33620
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33620DOI Listing
October 2010

Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome.

Nat Rev Urol 2010 Oct 14;7(10):583-7. Epub 2010 Sep 14.

Department of Dermatology, Research Institute Growth and Development (GROW), School for Oncology and Developmental Biology, University of Maastricht, P. O. Box 616, 6200 MD Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/nrurol.2010.140DOI Listing
October 2010

[Birt-Hogg-Dubé syndrome].

Ugeskr Laeger 2010 Jul;172(29):2085-90

Rigshospitalet, Klinisk Biokemisk Afdeling KB 3011, og University Medical Centre Maastricht, Department of Dermatology, Holland.

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July 2010

Monozygotic twins discordant for vascular malformations and dysregulated growth.

Eur J Med Genet 2010 Jan-Feb;53(1):14-8. Epub 2009 Aug 28.

Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2009.08.004DOI Listing
April 2010

Connexin mimetic peptides improve cell migration rates of human epidermal keratinocytes and dermal fibroblasts in vitro.

Wound Repair Regen 2009 Mar-Apr;17(2):240-9

Department of Biological and Biomedical Sciences, Glasgow Caledonian University, UK.

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http://dx.doi.org/10.1111/j.1524-475X.2009.00471.xDOI Listing
August 2009

Pachyonychia congenita type 1 with skeletal abnormalities.

Eur J Dermatol 2009 May-Jun;19(3):274-5. Epub 2009 Feb 27.

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http://dx.doi.org/10.1684/ejd.2009.0643DOI Listing
July 2009

A case of juvenile bullous pemphigoid--successful treatment with diaminodiphenylsulfone and prednisone.

Pediatr Dermatol 2009 Jan-Feb;26(1):55-8

Department of Paediatrics, Máxima Medical Centre Veldhoven, The Netherlands.

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http://dx.doi.org/10.1111/j.1525-1470.2008.00822.xDOI Listing
May 2009

T-cell large granular lymphocytic leukaemia with an uncommon clinical and immunological phenotype.

Acta Derm Venereol 2009 ;89(2):172-4

Department of Dermatology, Maastricht University Medical Center, the Netherlands.

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http://dx.doi.org/10.2340/00015555-0589DOI Listing
May 2009

Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?

Exp Dermatol 2009 Feb;18(2):185-91

Department of Dermatology, University Medical Centre Maastricht, University Hospital Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1600-0625.2008.00808.xDOI Listing
February 2009

UV addiction: a form of opiate dependency.

Arch Dermatol 2009 Feb;145(2):211; author reply 211

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http://dx.doi.org/10.1001/archdermatol.2008.564DOI Listing
February 2009

Infantile hemangiomas: how to know when they grow.

Arch Dermatol 2008 Dec;144(12):1650

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http://dx.doi.org/10.1001/archderm.144.12.1650DOI Listing
December 2008

Neonatal Langerhans' cell histiocytosis: a rare and potentially life-threatening disease.

Int J Dermatol 2008 Nov;47 Suppl 1:10-2

Department of Dermatology, University Hospital Maastricht, and GROW Research Institute for Oncology and Developmental Biology, University of Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-4632.2008.03950.xDOI Listing
November 2008

Lymphedema in Prader-Willi syndrome.

Int J Dermatol 2008 Nov;47 Suppl 1:42-4

Department of Dermatology, Maastricht University Center for Molecular Dermatology, GROW-School for Oncology and Developmental Biology, and Governor Kremers Center, University Medical Center Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-4632.2008.03959.xDOI Listing
November 2008

Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.

Int J Dermatol 2008 Nov;47 Suppl 1:45-8

Department of Dermatology, Maastricht University Medical Center, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-4632.2008.03960.xDOI Listing
November 2008

Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.

Int J Dermatol 2008 Nov;47 Suppl 1:52-5

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

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http://doi.wiley.com/10.1111/j.1365-4632.2008.03962.x
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http://dx.doi.org/10.1111/j.1365-4632.2008.03962.xDOI Listing
November 2008

Retinoic acid metabolism blocking agents (RAMBAs): a new paradigm in the treatment of hyperkeratotic disorders.

J Dtsch Dermatol Ges 2008 May 16;6(5):355-64. Epub 2007 Oct 16.

Barrier Therapeutics NV, Geel, Belgium, and Department of Dermatology, University Hospital Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1610-0387.2007.06541.xDOI Listing
May 2008

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.

Exp Dermatol 2008 Apr 2;17(4):362-5. Epub 2007 Nov 2.

Department of Dermatology, University of Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1600-0625.2007.00648.xDOI Listing
April 2008

Bullous congenital ichthyosiform erythroderma of Brocq.

Int J Dermatol 2007 Nov;46 Suppl 3:36-8

Department of Dermatology, Maastricht University Center for Molecular Dermatology (MUCMD), University Hospital Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-4632.2007.03510.xDOI Listing
November 2007

Monoclonal origin of anatomically distinct basal cell carcinomas: is there really hard evidence at hand?

J Invest Dermatol 2006 Dec 27;126(12):2727-9; author reply 2729-30. Epub 2006 Jul 27.

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http://dx.doi.org/10.1038/sj.jid.5700471DOI Listing
December 2006

Further delineation of the hypotrichosis-deafness syndrome.

Eur J Dermatol 2005 Nov-Dec;15(6):437-8

Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands.

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May 2006

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.

J Invest Dermatol 2006 Mar;126(3):607-13

Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, Ninewells Hospital and Medical School, University of Dundee, Dundee, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1532824
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http://dx.doi.org/10.1038/sj.jid.5700152DOI Listing
March 2006

The pathogenesis of hemangiomas: a review.

Plast Reconstr Surg 2006 Feb;117(2):29e-35e

Department of Plastic Surgery, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/01.prs.0000197134.72984.cbDOI Listing
February 2006

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

Am J Hum Genet 2005 Dec 11;77(6):909-17. Epub 2005 Oct 11.

Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, DD1 9SY, United Kingdom.

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http://dx.doi.org/10.1086/497707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1285176PMC
December 2005

Lamin processing comes of age.

J Invest Dermatol 2005 Nov;125(5):xii-xiii

Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.0022-202X.2005.23871.xDOI Listing
November 2005

Clinical and pathological features of pachyonychia congenita.

J Investig Dermatol Symp Proc 2005 Oct;10(1):3-17

Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, Utah 84112-5550, USA.

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http://dx.doi.org/10.1111/j.1087-0024.2005.10202.xDOI Listing
October 2005

Treatment of pachyonychia congenita.

J Investig Dermatol Symp Proc 2005 Oct;10(1):18-20

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 06520-8059, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X155255
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http://dx.doi.org/10.1111/j.1087-0024.2005.10203.xDOI Listing
October 2005

The genetic basis of pachyonychia congenita.

J Investig Dermatol Symp Proc 2005 Oct;10(1):21-30

Epithelial Genetics Group, Human Genetics Unit, Ninewells Hospital and Medical School, University of Dundee, Dundee DD1 9SY, UK.

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http://dx.doi.org/10.1111/j.1087-0024.2005.10204.xDOI Listing
October 2005

Some twin spots may not be twins.

Am J Med Genet A 2005 Feb;133A(1):113

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http://dx.doi.org/10.1002/ajmg.a.30488DOI Listing
February 2005

Does recessive EKV exist?

J Invest Dermatol 2005 Jan;124(1):268-9; author reply 270-1

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http://dx.doi.org/10.1111/j.0022-202X.2004.23517.xDOI Listing
January 2005

Poland anomaly: not unilateral or bilateral but mosaic.

Am J Med Genet A 2004 Mar;125A(2):211-2; author reply 213

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http://dx.doi.org/10.1002/ajmg.a.20392DOI Listing
March 2004

Clouston syndrome can mimic pachyonychia congenita.

J Invest Dermatol 2003 Nov;121(5):1035-8

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

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http://dx.doi.org/10.1046/j.1523-1747.2003.12527.xDOI Listing
November 2003

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Am J Hum Genet 2003 Jun 8;72(6):1470-8. Epub 2003 May 8.

Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels, Belgium.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180307PMC
http://dx.doi.org/10.1086/375614DOI Listing
June 2003

Mal de Meleda without mutations in the ARS coding sequence.

Eur J Dermatol 2002 Mar-Apr;12(2):129-32

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

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April 2002

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

J Invest Dermatol 2002 Apr;118(4):724-7

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

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http://dx.doi.org/10.1046/j.1523-1747.2002.01735.xDOI Listing
April 2002