Research Topics
Genomes and GenesSpecies | M A M van SteenselSummaryAffiliation: University Hospital Maastricht Country: The Netherlands Publications
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Detail Information
Publications
Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndromeM A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 143:2448-51. 2007..Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema...- Two Dutch brothers with Borrone dermato-cardio-skeletal syndromeM A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 143:1223-6. 2007..Since then, no further cases have been reported. Here, we report on two Dutch brothers with many features suggestive of this rare syndrome... - A case of Lelis syndrome with hystrix-like ichthyosisM A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 146:2155-8. 2008 - Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patientsMaurice A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
J Invest Dermatol 127:588-93. 2007..Renal microscopic oncocytosis in BHD is considered as a precursor to malignant kidney tumors and may likewise be the result of haplo-insufficiency, with somatic second-hit mutations or LOH giving rise to malignancy later in life... - Recurring HRAS mutation G12S in Dutch patients with Costello syndromeM A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Exp Dermatol 15:731-4. 2006..To our knowledge, our patients are the first Dutch to be analysed. The syndrome seems to be genetically homogeneous. We discuss the pertinent nosology of the syndrome... - Further delineation of the hypotrichosis-deafness syndromeMaurice A M van Steensel
Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Eur J Dermatol 15:437-8. 2005.... - Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotypeM A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 139:127-30. 2005..Here, we report on a 16-year-old female with Myhre syndrome. She has vertebral defects, hypertrophic scar formation, and a stiff skin in addition to the features that have previously been reported in association with Myhre syndrome... 
Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?Maurice A M van Steensel
Department of Dermatology, University Medical Centre Maastricht, University Hospital Maastricht, Maastricht, The Netherlands
Exp Dermatol 18:185-91. 2009..Here, we delineate how mTOR can link the various signalling pathways, thereby proposing a unifying model for hair follicle tumor formation...
A missense mutation in the type II hair keratin hHb3 is associated with monilethrixM A M van Steensel
Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
J Med Genet 42:e19. 2005- A new type of erythrokeratodermaM A M van Steensel
Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Br J Dermatol 152:155-8. 2005..Hence we propose that we have delineated a novel type of keratoderma... - A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratodermaM A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 132:171-4. 2005..This is predicted to lead to the production of a slightly truncated protein with 46 incorrect amino acids in the C-terminal cytoplasmic loop (C260fsX307). This novel mutation may explain the presence of skin symptoms... - Gap junction diseases of the skinM A M van Steensel
Dermatology Department, University Hospital Maastricht, The Netherlands
Am J Med Genet C Semin Med Genet 131:12-9. 2004..What is known about the pathogenesis of these disorders is discussed and related to gap junction physiology... - Molecular genetics of hereditary hair and nail diseaseM A M van Steensel
Dermatology Department, University Hospital Maastricht, The Netherlands
Am J Med Genet C Semin Med Genet 131:52-60. 2004..In this review, recent results from studies of syndrome affecting hair and nail development will be discussed... - A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutationMaurice A M van Steensel
Department of Dermatology, University Medical Centre Nijmegen, The Netherlands
J Invest Dermatol 123:291-3. 2004..Our finding suggest that careful audiological evaluation of patients suffering from Clouston-syndrome-like phenotypes is warranted and expand the spectrum of connexin26-associated disease... - Why minocycline can cause systemic lupus - a hypothesis and suggestions for therapeutic interventions based on itM A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Med Hypotheses 63:31-4. 2004..Such treatments can be tested in apoptosis-deficient mice that develop autoimmune disease... - Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2Maurice A M van Steensel
Department of Dermatology, University of Maastricht, Maastricht, The Netherlands
Exp Dermatol 17:362-5. 2008..It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF-beta signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS... - Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43M Vreeburg
Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 143:360-3. 2007..Thus, our findings support the notion that such mutations are associated with the occurrence of skin symptoms in ODDD and provide the first evidence for the existence of a genotype-phenotype correlation... - A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosisM C Bolling
Department of Dermatology, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands
Br J Dermatol 162:875-9. 2010..A novel heterozygous missense mutation in the linker L12 domain of KRT1:c.1019A>G, p.Asp340Gly was found associated with this phenotype in these families... - HID and KID syndromes are associated with the same connexin 26 mutationM van Geel
Department of Dermatology, University Hospital Nijmegen, The Netherlands
Br J Dermatol 146:938-42. 2002..These disorders are distinguished mainly on the basis of electron microscopic findings. We hypothesized that KID and HID syndromes may be genetically related... - The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of GottronM A M van Steensel
Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
Am J Med Genet A 149:657-61. 2009..Apparently, the same GJB4 mutation may cause either an EKV or a PSEK phenotype. A single ancestral founder might have introduced EKV in the Netherlands... - Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotypeI F Nagtzaam
Department of Dermatology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Br J Dermatol 163:205-7. 2010..Although the two conditions cannot always be easily distinguished, we would suggest that paucity of bile ducts could be a manifestation of NISCh... - Novel missense mutations in the FOXC2 gene alter transcriptional activityM A M van Steensel
Departments of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
Hum Mutat 30:E1002-9. 2009..One would expect that in this case, lymphatic hypoplasia would be the underlying abnormality. Patients with activating mutations might present with Meige disease... - A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndromeE A de Zwart-Storm
Department of Dermatology, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Br J Dermatol 164:197-9. 2011..How the different mutations in GJB2 lead to such distinctive phenotypes is poorly understood. Analysis of new GJB2 mutations can shed new light on pathogenesis and the apparently vital role of Cx26 in maintaining epidermal integrity... - New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin CM A M van Steensel
Department of Dermatology, University Medical Centre St Radboud Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Br J Dermatol 147:575-81. 2002..We propose that our patients suffer from a new syndrome possibly caused by mutations in a gene that has a functional or structural relation with CTSC... - Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletionM Vreeburg
Department of Clinical Genetics Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
J Eur Acad Dermatol Venereol 25:592-5. 2011..Approximately 90% of patients are women. A few instances of father-to-daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded... - Novel EBP gene mutations in Conradi-Hünermann-Happle syndromeP M Steijlen
Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Br J Dermatol 157:1225-9. 2007..302960] is an X-linked dominant disorder of cholesterol metabolism that causes a wide spectrum of skeletal abnormalities and linear ichthyosiform skin lesions. Mosaicism is probably responsible for the variability of the phenotype... - Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformationM A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Am J Med Genet A 146:2944-9. 2008..Interestingly, further analysis of the family revealed that the patient had inherited his deletion from his mother, who has a mos 46,X,del(X)(p22)/45,X/46, XX karyotype... - [From gene to disease; cutaneous leiomyomatosis]S Badeloe
afd Dermatologie, Academisch Ziekenhuis Maastricht, Postbus 5800, 6202 AZ Maastricht
Ned Tijdschr Geneeskd 151:300-4. 2007..This syndrome is known as hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839). Both disorders result from heterozygous germline mutations in the fumarate hydratase (FH) gene... - The nuclear envelope, a key structure in cellular integrity and gene expressionV L R M Verstraeten
Department of Dermatology, University Hospital Maastricht, P Debyelaan 25, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Curr Med Chem 14:1231-48. 2007..elegans. In this review, we elaborate on the structure and functions of nuclear lamins, the spectrum of syndromes related to mutations in nuclear envelope components and pathogenic concepts unifying these disorders... - Erysipelas as a sign of subclinical primary lymphoedema: a prospective quantitative scintigraphic study of 40 patients with unilateral erysipelas of the legR J Damstra
Department of Dermatology, Phlebology and Lymphology, Nij Smellinghe Hospital, 9202 NN Drachen, The Netherlands
Br J Dermatol 158:1210-5. 2008..The persistent swelling after erysipelas is then most likely caused by lymphoedema... - Recessive palmoplantar keratodermas: a tale of wings, hands, hair and cancerM A M van Steensel
Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
G Ital Dermatol Venereol 145:763-70. 2010..In this review, I outline how WNT signalling is involved in epidermal differentiation and skin cancer and what these new insights mean for everyday dermatology... - Genodermatoses caused by genetic mosaicismM Vreeburg
Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands
Eur J Pediatr 171:1725-35. 2012..Moreover, recent developments are now resulting in novel, targeted treatments for such disorders that promise to considerably improve patients' lives... - Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthoodM Klaassens
Department of Pediatrics, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands
Clin Genet 82:121-30. 2012..For physicians treating patients with EDS type VII, achieving mobility for the patient is the greatest challenge and it may be impossible because of recurrent dislocations of nearly all joints in severe cases... - Emerging drugs for ichthyosisM A M van Steensel
University of Maastricht, Department of Dermatology, University Hospital Maastricht and GROW Research School, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Expert Opin Emerg Drugs 12:647-56. 2007..With these drugs, retinoid effects may be obtained with less side effects and a shorter post-treatment teratogenicity period. This review discusses the RAMBAs that are now in clinical trials and outlines possible future developments... - Molecular aetiology and pathogenesis of basal cell carcinomaC M L J Tilli
Research Institute of Growth and Development, Department of Dermatology, University of Masstricht, The Netherlands
Br J Dermatol 152:1108-24. 2005..Furthermore, established and novel treatment modalities are discussed with particular attention to future biological approaches... - Factors associated with posttraumatic stress symptoms in a prospective cohort of patients after abdominal sepsis: a nomogramKimberly R Boer
Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, 1100 DE, PO Box 22700, Amsterdam, The Netherlands
Intensive Care Med 34:664-74. 2008..To determine to what extent patients who have survived abdominal sepsis suffer from symptoms of posttraumatic stress disorder (PTSD) and depression, and to identify potential risk factors for PTSD symptoms...