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Maurice van Steensel

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M Vreeburg; Maurice A M van Steensel
Genodermatoses caused by genetic mosaicism.
Jennifer A Easton; Rudolf Happle; René Janssens; Miriam A F Kamps; Patricia E Martin; Peter M Steijlen; Gianluca Tadini; Michel van Geel; Steven Donnelly; Maurice A M van Steensel
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
Steven Donnelly; Grant English; Sue Lang; Eugene A de Zwart-Storm; Maurice A M van Steensel; Patricia E Martin
Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis.

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2012: M Vreeburg; Maurice A M van Steensel
Genodermatoses caused by genetic mosaicism.
European journal of pediatrics 2012;171(12):1725-35.
2012: Jennifer A Easton; Rudolf Happle; René Janssens; Miriam A F Kamps; Patricia E Martin; Peter M Steijlen; Gianluca Tadini; Michel van Geel; Steven Donnelly; Maurice A M van Steensel
Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.
The Journal of investigative dermatology 2012;132(9):2184-91.
2012: Steven Donnelly; Grant English; Sue Lang; Eugene A de Zwart-Storm; Maurice A M van Steensel; Patricia E Martin
Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis.
Experimental dermatology 2012;21(8):592-8.
2012: Karin van den Hurk; Joost J van den Oord; Manon van Engeland; Maurice A M van Steensel; Jürgen Veeck; Hanneke E C Niessen; Axel Zur Hausen; Véronique J L Winnepenninckx
Genetics and epigenetics of cutaneous malignant melanoma: a concert out of tune.
Biochimica et biophysica acta 2012;1826(1):89-102.
2012: M Klaassens; Deborah Krakow; Fransiska Malfait; G Pals; E Reinstein; H C J Roggeveen; J J P Schrander; J Blaauw; A De Paepe; J M Graham; Y Hilhorst-Hofstee; H Staal; L C ten Have; Maurice A M van Steensel; C T R M Schrander-Stumpel
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.
Clinical genetics 2012;82(2):121-30.
2012: Dana Fuchs-Telem; Ofer Isakov; Shirli Israeli; Janna Nousbeck; Gabriele Richard; Katharina Richard; Ofer Sarig; Noam Shomron; Jouni Uitto; Maurice A M van Steensel; Marigje Vernooij; Veronique Winnepenninckx; Philip Fleckman; Eli Sprecher
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
American journal of human genetics 2012;91(1):163-70.
2012: I F Nagtzaam; A P A Stegmann; P M Steijlen; Michel van Geel; J A Van Lent-Albrechts; Jos Herbergs; Maurice A M van Steensel
Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31.
The British journal of dermatology 2012;166(4):905-7.
2012: Elke C Sattler; Josef J Schneider; Michel van Geel; Maurice A M van Steensel; Walter Burgdorf; Michael J Flaig; Martin U Lang; Thomas Ruzicka; Ortrud K Steinlein
Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X.
Acta dermato-venereologica 2012;92(2):187-8.
2012: Tjinta Brinkhuizen; Joep P de Hoon; Karin van den Hurk; Manon van Engeland; Ariënne M van Marion; Jürgen Veeck; Véronique J L Winnepenninckx; Maurice A M van Steensel
Epigenetic changes in Basal Cell Carcinoma affect SHH and WNT signaling components.
PloS one 2012;7(12):e51710.
2012: Stephanie F F W Bukkems; Wim J Ijspeert; Jaap J P Schrander; Lodewijk W van Rhijn; Maaike Vreenurg; Maurice A M van Steensel
[Conradi-Hünermann-Happle syndrome].
Nederlands tijdschrift voor geneeskunde 2012;156(10):A4105.
2012: J J A J van der Velden; P M Steijlen; H Hamm; W H I McLean; Maurice A M van Steensel; M F Jonkman; M van Geel
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.
Journal of dermatological science 2012;65(1):74-6.
2011: A C Houweling; Elisabeth H Jaspars; P C Johannesma; M A Jonker; E M Leter; E M H F Bongers; M M de Jong; L M Gijezen; J J P Gille; Rogier A Oldenburg; Pieter E Postmus; Theo M Starink; M B A van Doorn; N C T van Grieken; R Jeroen A Van Moorselaar; Theo A M van Os; K Y van Spaendonck-Zwarts; Maurice A M van Steensel; J-Htm van Waesberghe; Fred H Menko
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
British journal of cancer 2011;105(12):1912-9.
2011: Winnok De Vos; Frederik Houben; Miriam Kamps; Ashraf N Malhas; Erik M M Manders; Carlo L M Marcelis; Frans C S Ramaekers; Arthur van den Wijngaard; Maurice A M van Steensel; David J Vaux; Fons Verheyen; Valerie L R M Verstraeten; Juliën Cox; Jos L V Broers
Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.
Human molecular genetics 2011;20(21):4175-86.
2011: Amy S Paller; Marina Rodriguez-Martín; Jennifer Sorrell; Michel van Geel; Maurice A M van Steensel; Antonio Noda Cabrera; Debra Crumrine; Candrice Heath; Peter M Elias
Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism.
The Journal of investigative dermatology 2011;131(11):2242-8.
2011: Martin Glatz; Peter M Steijlen; Michel van Geel; Maurice A M van Steensel; Peter Wolf
An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.
Acta dermato-venereologica 2011;91(6):714-5.
2011: L J M T Parren; Peter M Steijlen; Michel van Geel; Maurice A M van Steensel; T Wagenvoort; Faris Abuzahra; F Koene; Jorge Frank
Linkage refinement of Bazex-Dupré-Christol syndrome to an 11·4-Mb interval on chromosome Xq25-27.1.
The British journal of dermatology 2011;165(1):201-3.
2011: Eugene A de Zwart-Storm; Rafael F M Rosa; Patricia E Martin; Regina Foelster-Holst; Jorge Frank; Ana E K Bau; Paulo R G Zen; Carla Graziadio; Giorgio A Paskulin; Miriam A Kamps; Michel van Geel; Maurice A M van Steensel
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
Experimental dermatology 2011;20(5):408-12.
2011: Charlène E U Oduber; Chantal M A M van der Horst; J Henk Sillevis Smitt; Mark J C Smeulders; Vibhu Mendiratta; John I Harper; Maurice A M van Steensel; Raoul C M Hennekam
A proposal for classification of entities combining vascular malformations and deregulated growth.
European journal of medical genetics 2011;54(3):262-71.
2011: M Vreeburg; M van Geel; L G T van den Heuij; P M Steijlen; Maurice A M van Steensel
Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.
Journal of the European Academy of Dermatology and Venereology : JEADV 2011;25(5):592-5.
2011: R S Preston; A Philp; T Claessens; L Gijezen; A B Dydensborg; E A Dunlop; K T Harper; T Brinkhuizen; F H Menko; D M Davies; S C Land; A Pause; Keith Baar; Maurice A M van Steensel; A R Tee
Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility.
Oncogene 2011;30(10):1159-73.
2011: Valerie L R M Verstraeten; Johan Renes; Frans C S Ramaekers; Miriam Kamps; Helma J Kuijpers; Fons Verheyen; Martin Wabitsch; Peter M Steijlen; Maurice A M van Steensel; Jos L V Broers
Reorganization of the nuclear lamina and cytoskeleton in adipogenesis.
Histochemistry and cell biology 2011;135(3):251-61.
2011: E A de Zwart-Storm; M van Geel; E Veysey; Susan Burge; S Cooper; Peter M Steijlen; P E Martin; Maurice A M van Steensel
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.
The British journal of dermatology 2011;164(1):197-9.
2011: D L Smit; A R Mensenkamp; S Badeloe; M H Breuning; M E H Simon; K Y van Spaendonck; C M Aalfs; J G Post; S Shanley; I P C Krapels; Lies Hoefsloot; R J A van Moorselaar; T M Starink; J-P Bayley; J Frank; Maurice A M van Steensel; Fred H Menko
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Clinical genetics 2011;79(1):49-59.
2010: Maurice A M van Steensel
Recessive palmoplantar keratodermas: a tale of wings, hands, hair and cancer.
Giornale italiano di dermatologia e venereologia : organo ufficiale, Società italiana di dermatologia e sifilografia 2010;145(6):763-70.
2010: Tijs Claessens; Sherry A Weppler; Michel van Geel; David Creytens; Maaike Vreeburg; Bradley Wouters; Maurice A M van Steensel
Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome.
Nature reviews. Urology 2010;7(10):583-7.
2010: Hiram Larangeira de Almeida; Patrícia Caspary; Rodrigo Pereira Duquia; Rowdy Meijer; Maurice A M van Steensel
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome.
American journal of medical genetics. Part A 2010;152A(10):2656-7.
2010: Charlotte A Haaxma; Yanick J Crow; Maurice A M van Steensel; Martin M Y Lammens; Gillian I Rice; Marcel M Verbeek; Michèl A A P Willemsen
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
American journal of medical genetics. Part A 2010;152A(10):2612-7.
2010: Vinzenz Oji; Gianluca Tadini; Masashi Akiyama; Claudine Blanchet Bardon; Christine Bodemer; Emmanuelle Bourrat; Philippe Coudiere; John J DiGiovanna; Peter Elias; Judith Fischer; Philip Fleckman; Michal Gina; John Harper; Takashi Hashimoto; Ingrid Hausser; Hans Christian Hennies; Daniel Hohl; Alain Hovnanian; Akemi Ishida-Yamamoto; Witold K Jacyk; Sancy Leachman; Irene Leigh; Juliette Mazereeuw-Hautier; Leonard Milstone; Fanny Morice-Picard; Amy S Paller; Gabriele Richard; Matthias Schmuth; Hiroshi Shimizu; Eli Sprecher; Maurice A M van Steensel; Alain Taïeb; Jorge R Toro; Pierre Vabres; Anders Vahlquist; Mary Williams; Heiko Traupe
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
Journal of the American Academy of Dermatology 2010;63(4):607-41.
2010: Maurice A M van Steensel; H H Lemmink
A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.
Journal of the European Academy of Dermatology and Venereology : JEADV 2010;24(9):1116-7.
2010: Anders Rehfeld; Maurice A M van Steensel; Lennart Friis-Hansen
[Birt-Hogg-Dubé syndrome].
Ugeskrift for laeger 2010;172(29):2085-90.
2010: I F Nagtzaam; Michel van Geel; A Driessen; Peter M Steijlen; Maurice A M van Steensel
Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.
The British journal of dermatology 2010;163(1):205-7.
2010: Michael S Nahorski; Derek H K Lim; Lynn Martin; Johan J P Gille; Kirsten McKay; Pauline K Rehal; H Martijn Ploeger; Maurice A M van Steensel; Ian P Tomlinson; Farida Latif; Fred H Menko; Eamonn R Maher
Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer.
Journal of medical genetics 2010;47(6):385-90.
2010: Michel van Geel; M Gattas; Y Kesler; P Tong; H Yan; K Tran; Peter M Steijlen; Dédée F Murrell; Maurice A M van Steensel
Phenotypic variability associated with WNT10A nonsense mutations.
The British journal of dermatology 2010;162(6):1403-6.
2010: Johanna Dahlqvist; Joakim Klar; Neha Tiwari; Jens Schuster; Hans Törmä; Jitendra Badhai; Ramon Pujol; Maurice A M van Steensel; Tjinta Brinkhuizen; Tjinta Brinkhuijzen; Lieke Gijezen; Antonio Chaves; Gianluca Tadini; Anders Vahlquist; Niklas Dahl
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
American journal of human genetics 2010;86(4):596-603.
2010: M C Bolling; Reno S Bladergroen; Maurice A M van Steensel; M Willemsen; Marcel F Jonkman; Michel van Geel
A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
The British journal of dermatology 2010;162(4):875-9.
2010: M Klaassens; E W Blom; J J P Schrander; C Ris-Stalpers; A C Nieuwenhuijzen Kruseman; Maurice A M van Steensel; C T R M Schrander-Stumpel
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.
The British journal of dermatology 2010;162(3):690-4.
2010: Derek H K Lim; Pauline K Rehal; Michael S Nahorski; Fiona Macdonald; Tijs Claessens; Michel Van Geel; Lieke Gijezen; Johan J P Gille; Sophie Giraud; Stephane Richard; Maurice A M van Steensel; Fred H Menko; Eamonn R Maher
A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.
Human mutation 2010;31(1):E1043-51.
2010: Charlène E U Oduber; Jet Bliek; Chantal M A M van der Horst; Maurice A M van Steensel; Raoul Hennekam
Monozygotic twins discordant for vascular malformations and dysregulated growth.
European journal of medical genetics 2010;53(1):14-8.
2009: Klara Mosterd; Anja Sommer; Arienne van Marion; Martin Lacko; Jos Herbergs; Bert Jan de Bondt; Maurice A M van Steensel; Nicole W J Kelleners-Smeets
Destructive basal cell carcinoma in a patient with basal cell nevus syndrome and an interstitial deletion of chromosome 9q22.
Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2009;35(12):2051-3.
2009: Fred H Menko; Maurice A M van Steensel; Sophie Giraud; Lennart Friis-Hansen; Stéphane Richard; Silvana Ungari; Magnus Nordenskjöld; Thomas Vo Hansen; John Solly; Eamonn R Maher
Birt-Hogg-Dubé syndrome: diagnosis and management.
The lancet oncology 2009;10(12):1199-206.
2009: Maurice A M van Steensel; R J Damstra; Martijn Heitink; R S Bladergroen; J Veraart; Peter M Steijlen; M van Geel
Novel missense mutations in the FOXC2 gene alter transcriptional activity.
Human mutation 2009;30(12):E1002-9.
2009: Monia Kharfi; Nadia El Fekih; Donia Ammar; Habib Jaafoura; Susanne Schwonbeck; Maurice A M van Steensel; Bécima Fazaa; Mohamed Ridha Kamoun; Judith Fischer
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.
The Journal of investigative dermatology 2009;129(10):2512-5.
2009: Maurice A M van Steensel; J Frank
Focal acral hyperkeratosis and acrokeratoelastoidosis: birds of a feather?
Journal of the European Academy of Dermatology and Venereology : JEADV 2009;23(9):1113-4.
2009: Maurice A M van Steensel; Annemarie H Van Der Hout
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia.
American journal of medical genetics. Part A 2009;149A(7):1612-3.
2009: W A G van Zelst-Stams; Maurice A M van Steensel
A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia.
American journal of medical genetics. Part A 2009;149A(7):1558-60.
2009: Jaap J A J Van der Velden; Maurice A M van Steensel
Pachyonychia congenita type 1 with skeletal abnormalities.
European journal of dermatology : EJD 2009;19(3):274-5.
2009: Valerie L R M Verstraeten; Sandrine Caputo; Maurice A M van Steensel; Isabelle Duband-Goulet; Sophie Zinn-Justin; Miriam Kamps; Helma J H Kuijpers; Cecilia Ostlund; Howard J Worman; Jacob J Briedé; Caroline Le Dour; Carlo L M Marcelis; Michel van Geel; Peter M Steijlen; Arthur van den Wijngaard; Frans C S Ramaekers; Jos L V Broers
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
Journal of cellular and molecular medicine 2009;13(5):959-71.
2009: R G L Nellen; Michel van Geel; Peter M Steijlen; Maurice A M van Steensel
Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
The British journal of dermatology 2009;160(4):878-80.
2009: Catherine S Wright; Maurice A M van Steensel; Malcolm B Hodgins; Patricia E M Martin
Connexin mimetic peptides improve cell migration rates of human epidermal keratinocytes and dermal fibroblasts in vitro.
Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society 2009;17(2):240-9.
2009: Sadhanna Badeloe; K Y van Spaendonck-Zwarts; Maurice A M van Steensel; A M W van Marion; A J van Essen; Marcel F Jonkman; Peter M Steijlen; Pamela Poblete Gutiérrez; Michel van Geel; Jorge Frank
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
The British journal of dermatology 2009;160(3):707-9.
2009: Maurice A M van Steensel; A P Oranje; J G van der Schroeff; A Wagner; Michel van Geel
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.
American journal of medical genetics. Part A 2009;149A(4):657-61.
2009: Maurice A M van Steensel
UV addiction: a form of opiate dependency.
Archives of dermatology 2009;145(2):211; author reply 211.
2009: Maurice A M van Steensel; Michel van Geel; Sadhanna Badeloe; Pamela Poblete Gutiérrez; Jorge Frank
Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
Experimental dermatology 2009;18(2):185-91.
2009: Yaran Wen; Yang Liu; Yiming Xu; Yiwei Zhao; Rui Hua; Kaibo Wang; Miao Sun; Yuanhong Li; Sen Yang; Xue-Jun Zhang; Roland Kruse; Sven Cichon; Regina C Betz; Markus M Nöthen; Maurice A M van Steensel; Michel van Geel; Peter M Steijlen; Daniel Hohl; Marcel Huber; Giles S Dunnill; Cameron Kennedy; Andrew Messenger; Colin S Munro; Alessandro Terrinoni; Alain Hovnanian; Christine Bodemer; Yves de Prost; Amy S Paller; Alan D Irvine; Rod Sinclair; Jack Green; Dandan Shang; Qing Liu; Yang Luo; Li Jiang; Hong-Duo Chen; Wilson H-Y Lo; W H Irwin McLean; Chun-Di He; Xue Zhang
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Nature genetics 2009;41(2):228-33.
2009: Valerie L R M Verstraeten; Wolfgang Holnthoner; Maurice A M van Steensel; Joep C J M Veraart; Reno S Bladergroen; Caroline A Heckman; Salla Keskitalo; Jorge Frank; Kari Alitalo; Michel van Geel; Peter M Steijlen
Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema.
The Journal of investigative dermatology 2009;129(2):509-12.
2009: R J Schimmel; A M Van Tuyll Van Serooskerke; Reno S Bladergroen; Maurice A M van Steensel; M van Geel; S G M A Pasmans; Jorge Frank
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma.
Cellular and molecular biology (Noisy-le-Grand, France) 2009;55(2):111-7.
2009: Maurice A M van Steensel; Michel van Gelder; Ariënne M W van Marion; Bernd Kremer; Jorge Frank
T-cell large granular lymphocytic leukaemia with an uncommon clinical and immunological phenotype.
Acta dermato-venereologica 2009;89(2):172-4.
2009: Karen A Marcus; Feico J J Halbertsma; Maurice A M van Steensel
A case of juvenile bullous pemphigoid--successful treatment with diaminodiphenylsulfone and prednisone.
Pediatric dermatology 2009;26(1):55-8.
2008: Maurice A M van Steensel
Infantile hemangiomas: how to know when they grow.
Archives of dermatology 2008;144(12):1650.
2008: Maurice A M van Steensel; Sadhanna Badeloe; V Winnepenninckx; M Vreeburg; Peter M Steijlen; Michel van Geel
Granulomatous rosacea and Crohn's disease in a patient homozygous for the Crohn-associated NOD2/CARD15 polymorphism R702W.
Experimental dermatology 2008;17(12):1057-8.
2008: Maurice A M van Steensel; M Vreeburg; J J M Engelen; S Ghesquiere; A P A Stegmann; Jos Herbergs; J van Lent; B Smeets; J H Vles
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 malformation.
American journal of medical genetics. Part A 2008;146A(22):2944-9.
2008: M Vreeburg; Martijn Heitink; Robert J Damstra; Ute Moog; Michel van Geel; Maurice A M van Steensel
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
International journal of dermatology 2008;47 Suppl 1():52-5.
2008: Jaap J A J van der Velden; Maaike Vreeburg; Eric E J Smeets; Constance T R M Schrander-Stumpel; Maurice A M van Steensel
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.
International journal of dermatology 2008;47 Suppl 1():45-8.
2008: Martijn Heitink; Margje Sinnema; Maurice A M van Steensel; Connie T R M Schrander-Stumpel; Jorge Frank; Leopold M G Curfs
Lymphedema in Prader-Willi syndrome.
International journal of dermatology 2008;47 Suppl 1():42-4.
2008: Klara Mosterd; Arienne van Marion; Maurice A M van Steensel
Neonatal Langerhans' cell histiocytosis: a rare and potentially life-threatening disease.
International journal of dermatology 2008;47 Suppl 1():10-2.
2008: Eugene A de Zwart-Storm; Michel van Geel; Pierre A F A van Neer; Peter M Steijlen; Patricia E Martin; Maurice A M van Steensel
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
The American journal of pathology 2008;173(4):1113-9.
2008: K Mosterd; R G L Nellen; M van Engeland; M van Geel; Maurice A M van Steensel
Defects in DNA mismatch repair do not account for early-onset basal cell carcinoma.
The British journal of dermatology 2008;159(3):751-3.
2008: Maurice A M van Steensel; V Winnepenninckx; Ivo F Nagtzaam; R Janssens; R De Vos; Peter M Steijlen
A case of Lelis syndrome with hystrix-like ichthyosis.
American journal of medical genetics. Part A 2008;146A(16):2155-8.
2008: Sadhanna Badeloe; Reno S Bladergroen; Marcel F Jonkman; Nigel P Burrows; Peter M Steijlen; Pamela Poblete Gutiérrez; Maurice A M van Steensel; Michel van Geel; Jorge Frank
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene.
Journal of dermatological science 2008;51(2):139-43.
2008: S Badeloe; M van Geel; I Nagtzaam; M E Rubio-Gozalbo; R L Oei; P M Steijlen; Maurice A M van Steensel
Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
The British journal of dermatology 2008;158(6):1378-80.
2008: Robert J Damstra; Maurice A M van Steensel; J H B Boomsma; P Nelemans; J C J M Veraart
Erysipelas as a sign of subclinical primary lymphoedema: a prospective quantitative scintigraphic study of 40 patients with unilateral erysipelas of the leg.
The British journal of dermatology 2008;158(6):1210-5.
2008: Janna Nousbeck; Ronen Spiegel; Akemi Ishida-Yamamoto; Margarita Indelman; Ayelet Shani-Adir; Noam Adir; Ehud Lipkin; Sivan Bercovici; Dan Geiger; Maurice A M van Steensel; Peter M Steijlen; Reuven Bergman; Albrecht Bindereif; Mordechai Choder; Stavit Shalev; Eli Sprecher
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.
American journal of human genetics 2008;82(5):1114-21.
2008: Christel J Verfaille; Marcel Borgers; Maurice A M van Steensel
Retinoic acid metabolism blocking agents (RAMBAs): a new paradigm in the treatment of hyperkeratotic disorders.
Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG 2008;6(5):355-64.
2008: Maurice A M van Steensel; Michel van Geel; Lizelotte J M T Parren; C T R M Schrander-Stumpel; Dominique Marcus-Soekarman
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.
Experimental dermatology 2008;17(4):362-5.
2008: Nadina Ortiz Brüchle; Jorge Frank; Valeska Frank; Jan Senderek; Ahmet Akar; Erol Koc; Dimitris Rigopoulos; Maurice A M van Steensel; Klaus Zerres; Carsten Bergmann
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
The Journal of investigative dermatology 2008;128(4):791-6.
2008: Laurent Parmentier; Peter M Steijlen; Maurice A M van Steensel
Recessive palmoplantar keratodermas: a fertile biological hunting ground.
Archives of dermatology 2008;144(3):384-5.
2008: E A de Zwart-Storm; H Hamm; J Stoevesandt; P M Steijlen; P E Martin; M van Geel; Maurice A M van Steensel
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
Journal of medical genetics 2008;45(3):161-6.
2007: Peter M Steijlen; Michel van Geel; M Vreeburg; Dominique Marcus-Soekarman; L J M Spaapen; F C M Castelijns; M Willemsen; Maurice A M van Steensel
Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome.
The British journal of dermatology 2007;157(6):1225-9.
2007: Peter Slee; R I F van der Waal; J H Schagen van Leeuwen; R A Tupker; Robin Timmer; Cornelis A Seldenrijk; Maurice A M van Steensel
Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked?
The British journal of dermatology 2007;157(6):1087-92.
2007: Jorge Frank; Maurice A M van Steensel; Michel van Geel
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?
Human mutation 2007;28(12):1241-2; author reply 1243-4.
2007: Maurice A M van Steensel
Emerging drugs for ichthyosis.
Expert opinion on emerging drugs 2007;12(4):647-56.
2007: Martina Kucharekova; Klara Mosterd; Veronique Winnepenninckx; Michel van Geel; Anja Sommer; Maurice A M van Steensel
Bullous congenital ichthyosiform erythroderma of Brocq.
International journal of dermatology 2007;46 Suppl 3():36-8.
2007: Maurice A M van Steensel; Michel van Geel; C T R M Schrander-Stumpel; Peter M Steijlen; J C J M Veraart
Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.
American journal of medical genetics. Part A 2007;143A(20):2448-51.
2007: C S Seitz; Maurice A M van Steensel; J Frank; Jan Senderek; K Zerres; H Hamm; C Bergmann
The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.
The British journal of dermatology 2007;157(4):801-2.
2007: Jorge Frank; Michel van Geel; Maurice A M van Steensel
Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned.
The Journal of investigative dermatology 2007;127(8):2058-9; author reply 2059-60; discussion 2060.
2007: Maurice A M van Steensel; R P M Ceulen; Tammo Delhaas; C E M de Die-Smulders
Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome.
American journal of medical genetics. Part A 2007;143A(11):1223-6.
2007: Aileen Sandilands; Ana Terron-Kwiatkowski; Peter R Hull; Gráinne M O'Regan; Timothy H Clayton; Rosemarie M Watson; Thomas Carrick; Alan T Evans; Haihui Liao; Yiwei Zhao; Linda E Campbell; Matthias Schmuth; Robert Gruber; Andreas R Janecke; Peter M Elias; Maurice A M van Steensel; Ivo Nagtzaam; Michel van Geel; Peter M Steijlen; Colin S Munro; Daniel G Bradley; Colin N A Palmer; Frances J D Smith; W H Irwin McLean; Alan D Irvine
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Nature genetics 2007;39(5):650-4.
2007: CJ Verfaille; Frédéric Vanhoutte; Claudine Blanchet-Bardon; Maurice A M van Steensel; P M Steijlen
Oral liarozole vs. acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled study.
The British journal of dermatology 2007;156(5):965-73.
2007: Maurice A M van Steensel; Valerie L R M Verstraeten; Jorge Frank; Nicole W J Kelleners-Smeets; Pamela Poblete Gutiérrez; Dominique Marcus-Soekarman; Reno S Bladergroen; Peter M Steijlen; Michel van Geel
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
The Journal of investigative dermatology 2007;127(3):588-93.
2007: M Vreeburg; Eugene A de Zwart-Storm; M I Schouten; R G L Nellen; Dominique Marcus-Soekarman; M Devies; Michel van Geel; Maurice A M van Steensel
Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43.
American journal of medical genetics. Part A 2007;143(4):360-3.
2007: Sadhanna Badeloe; Michel van Geel; Maurice A M van Steensel; Peter M Steijlen; Pamela Poblete Gutiérrez; J A Frank
[From gene to disease; cutaneous leiomyomatosis].
Nederlands tijdschrift voor geneeskunde 2007;151(5):300-4.
2007: Valerie L R M Verstraeten; Jos L V Broers; Frans C S Ramaekers; Maurice A M van Steensel
The nuclear envelope, a key structure in cellular integrity and gene expression.
Current medicinal chemistry 2007;14(11):1231-48.
2006: Carsten Bergmann; Jan Senderek; D Anhuf; Christian T Thiel; Arif B Ekici; P Poblete-Gutierrez; Maurice A M van Steensel; Dominik Seelow; Gudrun Nürnberg; H H Schild; Peter Nürnberg; André Reis; J Frank; Klaus Zerres
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
American journal of human genetics 2006;79(6):1105-9.
2006: Maurice A M van Steensel; Jorge Frank
Monoclonal origin of anatomically distinct basal cell carcinomas: is there really hard evidence at hand?
The Journal of investigative dermatology 2006;126(12):2727-9; author reply 2729-30.
2006: Sadhanna Badeloe; Michel van Geel; Maurice A M van Steensel; Jesús Bastida; Juan Ferrando; Peter M Steijlen; Jorge Frank; Pamela Poblete Gutiérrez
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Experimental dermatology 2006;15(9):735-41.
2006: Maurice A M van Steensel; M Vreeburg; C Peels; Conny van Ravenswaaij-Arts; Emilia K Bijlsma; C T R M Schrander-Stumpel; Michel van Geel
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
Experimental dermatology 2006;15(9):731-4.
2006: Valerie L R M Verstraeten; Jos L V Broers; Maurice A M van Steensel; Sophie Zinn-Justin; Frans C S Ramaekers; Peter M Steijlen; Miriam Kamps; Helma J H Kuijpers; Diane Merckx; H J M Smeets; Raoul Hennekam; Carlo L M Marcelis; Arthur van den Wijngaard
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
Human molecular genetics 2006;15(16):2509-22.
2006: Maurice A M van Steensel; Valerie L R M Verstraeten; Jorge Frank
Acrokeratoelastoidosis with nail dystrophy: a coincidence or a new entity?
Archives of dermatology 2006;142(7):939-41.
2006: Ana Terron-Kwiatkowski; Maurice A M van Steensel; Michel van Geel; E Birgitte Lane; W H Irwin McLean; Peter M Steijlen
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
The Journal of investigative dermatology 2006;126(3):607-13.
2006: Constantijn G Bauland; Maurice A M van Steensel; Peter M Steijlen; Paul N M A Rieu; Paul H M Spauwen
The pathogenesis of hemangiomas: a review.
Plastic and reconstructive surgery 2006;117(2):29e-35e.
2005: Andrew J Cassidy; Maurice A M van Steensel; Peter M Steijlen; Michel van Geel; Jaap van der Velden; Susan M Morley; Alessandro Terrinoni; Gerry Melino; Eleonora Candi; W H Irwin McLean
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.
American journal of human genetics 2005;77(6):909-17.
2005: Maurice A M van Steensel; M Vreeburg; Peter M Steijlen; C E M de Die-Smulders
Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype.
American journal of medical genetics. Part A 2005;139A(2):127-30.
2005: Maurice A M van Steensel; Jorge Frank
Lamin processing comes of age.
The Journal of investigative dermatology 2005;125(5):xii-xiii.
2005: Maurice A M van Steensel; Michel van Geel; Peter M Steijlen
Further delineation of the hypotrichosis-deafness syndrome.
European journal of dermatology : EJD 2005;15(6):437-8.
2005: Frances J D Smith; Haihui Liao; Andrew J Cassidy; Arlene Stewart; Kevin J Hamill; Pamela Wood; Iris Joval; Maurice A M van Steensel; Erik Björck; Faith Callif-Daley; Gerald Pals; Paul Collins; Sancy A Leachman; Colin S Munro; W H Irwin McLean
The genetic basis of pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(1):21-30.
2005: Leonard M Milstone; Philip Fleckman; Sancy A Leachman; Irene M Leigh; Amy S Paller; Maurice A M van Steensel; Carl Swartling
Treatment of pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(1):18-20.
2005: Sancy A Leachman; Roger L Kaspar; Philip Fleckman; Scott R Florell; Frances J D Smith; W H Irwin McLean; Declan P Lunny; Leonard M Milstone; Maurice A M van Steensel; Colin S Munro; Edel A O'Toole; Julide Tok Celebi; Aleksej Kansky; E Birgitte Lane
Clinical and pathological features of pachyonychia congenita.
The journal of investigative dermatology. Symposium proceedings / the Society for Investigative Dermatology, Inc. [and] European Society for Dermatological Research 2005;10(1):3-17.
2005: C M L J Tilli; Maurice A M van Steensel; G A M Krekels; H A M Neumann; Frans C S Ramaekers
Molecular aetiology and pathogenesis of basal cell carcinoma.
The British journal of dermatology 2005;152(6):1108-24.
2005: Maurice A M van Steensel; Peter M Steijlen; Reno S Bladergroen; M Vermeer; Michel van Geel
A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.
Journal of medical genetics 2005;42(3):e19.
2005: Maurice A M van Steensel; P M Steijlen; M B Maessen-Visch
New type of twin spot.
American journal of medical genetics. Part A 2005;133A(1):108-11.
2005: Maurice A M van Steensel
Some twin spots may not be twins.
American journal of medical genetics. Part A 2005;133A(1):113.
2005: Maurice A M van Steensel; Liesbeth Spruijt; I van der Burgt; Reno S Bladergroen; M Vermeer; Peter M Steijlen; Michel van Geel
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma.
American journal of medical genetics. Part A 2005;132A(2):171-4.
2005: Maurice A M van Steensel; Michel van Geel; Peter M Steijlen
A new type of erythrokeratoderma.
The British journal of dermatology 2005;152(1):155-8.
2005: Maurice A M van Steensel; Michel van Geel
Does recessive EKV exist?
The Journal of investigative dermatology 2005;124(1):268-9; author reply 270-1.
2004: Maurice A M van Steensel
Gap junction diseases of the skin.
American journal of medical genetics. Part C, Seminars in medical genetics 2004;131C(1):12-9.
2004: Maurice A M van Steensel; Michel van Geel; Peter M Steijlen
Molecular genetics of hereditary hair and nail disease.
American journal of medical genetics. Part C, Seminars in medical genetics 2004;131C(1):52-60.
2004: Maurice A M van Steensel; Peter M Steijlen; Reno S Bladergroen; Lies Hoefsloot; Conny van Ravenswaaij-Arts; Michel van Geel
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.
The Journal of investigative dermatology 2004;123(2):291-3.
2004: Luigi Laino; Salvatore Pala; Daniele Innocenzi; G Accappaticcio; Maurice A M van Steensel
Genital porokeratosis.
European journal of dermatology : EJD 2004;14(3):190-2.
2004: Maurice A M van Steensel
Does progressive symmetric erythrokeratoderma exist?
The British journal of dermatology 2004;150(5):1043-5.
2004: A M Brun; Maurice A M van Steensel
A third case of HOPP syndrome-confirmation of the phenotype.
The British journal of dermatology 2004;150(5):1032-3.
2004: Peter M Steijlen; Maurice A M van Steensel; Bastiaan Jan Herman Jansen; Willeke A M Blokx; P C M van de Kerkhof; Rudolf Happle; Michel van Geel
Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene.
The Journal of investigative dermatology 2004;122(5):1321-4.
2004: Maurice A M van Steensel
Poland anomaly: not unilateral or bilateral but mosaic.
American journal of medical genetics. Part A 2004;125A(2):211-2; author reply 213.
2004: Maurice A M van Steensel
Why minocycline can cause systemic lupus - a hypothesis and suggestions for therapeutic interventions based on it.
Medical hypotheses 2004;63(1):31-4.
2003: Maurice A M van Steensel; Marcel F Jonkman; Michel van Geel; Peter M Steijlen; W H Irwin McLean; Frances J D Smith
Clouston syndrome can mimic pachyonychia congenita.
The Journal of investigative dermatology 2003;121(5):1035-8.
2003: W H Irwin McLean; Alan D Irvine; Kevin J Hamill; Neil Whittock; Carrie M Coleman-Campbell; Jemima E Mellerio; Gabrielle S Ashton; Patricia Dopping-Hepenstal; Robin A J Eady; Tanvir Jamil; Roderic J Phillips; S Ghulam Shabbir; Tahir Saeed Haroon; Khawar Khurshid; Jonathan E Moore; Brian Page; Jonathan Darling; David J Atherton; Maurice A M van Steensel; Colin S Munro; Frances J D Smith; John A McGrath; Rodney J Phillips
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
Human molecular genetics 2003;12(18):2395-409.
2003: Alexandre Irrthum; koenraad devriendt; David Chitayat; Gert Matthijs; Conrad Glade; Peter M Steijlen; Jean-Pierre Fryns; Maurice A M van Steensel; Miikka Vikkula
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
American journal of human genetics 2003;72(6):1470-8.
2003: W H P M Vissers; Maurice A M van Steensel; Peter M Steijlen; Willy O Renier; P C M van de Kerkhof; Carine Van Der Vleuten
Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme?
European journal of dermatology : EJD 2003;13(3):238-41.
2002: Michel van Geel; Maurice A M van Steensel; Peter M Steijlen
Connexin 30.3 (GJB4) is not required for normal skin function in humans.
The British journal of dermatology 2002;147(6):1275-7.
2002: Maurice A M van Steensel; Michel van Geel; Peter M Steijlen
New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C.
The British journal of dermatology 2002;147(3):575-81.
2002: Michel van Geel; Maurice A M van Steensel; Wolfgang Küster; Hans Christian Hennies; Rudolf Happle; Peter M Steijlen; A König
HID and KID syndromes are associated with the same connexin 26 mutation.
The British journal of dermatology 2002;146(6):938-42.
2002: Takahiro Hamada; W H Irwin McLean; Michele Ramsay; G H S Ashton; Arti Nanda; Trefor Jenkins; Isobel Edelstein; Andrew P South; Oliver Bleck; Vesarat Wessagowit; Rajeev Mallipeddi; Guy E Orchard; Hong Wan; Patricia Dopping-Hepenstal; Jemima E Mellerio; Neil Whittock; Colin S Munro; Maurice A M van Steensel; Peter M Steijlen; Jian Ni; Lurong Zhang; Takashi Hashimoto; Robin A J Eady; John A McGrath
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Human molecular genetics 2002;11(7):833-40.
2002: Maurice A M van Steensel; Michel van Geel; Marc Nahuys; J H Sillevis Smitt; Peter M Steijlen
A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.
The Journal of investigative dermatology 2002;118(4):724-7.
2002: Maurice A M van Steensel; Michel van Geel; Peter M Steijlen
Mal de Meleda without mutations in the ARS coding sequence.
European journal of dermatology : EJD 2002;12(2):129-32.
2001: C Glade; Maurice A M van Steensel; Peter M Steijlen
Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?
European journal of dermatology : EJD 2001;11(6):515-7.
2001: Maurice A M van Steensel; M I Koedam; O Q J Swinkels; F Rietveld; Peter M Steijlen
Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred.
The British journal of dermatology 2001;145(1):157-61.
2001: Maurice A M van Steensel; Michel van Geel; P M Steiljen
The molecular basis of hair growth.
European journal of dermatology : EJD 2001;11(4):348-52.
2001: Maurice A M van Steensel; N G Jaspers; Peter M Steijlen
A case of Rombo syndrome.
The British journal of dermatology 2001;144(6):1215-8.
2001: Maurice A M van Steensel; Frances J D Smith; Peter M Steijlen
A new type of pachyonychia congenita.
European journal of dermatology : EJD 2001;11(3):188-90.
2001: Luigi Laino; Maurice A M van Steensel; Daniele Innocenzi; G Camplone
Familial occurrence of nevus sebaceus of Jadassohn: another case of paradominant inheritance?
European journal of dermatology : EJD 2001;11(2):97-8.
2000: Peter M Steijlen; HE Viëtor; Maurice A M van Steensel; Rudolf Happle
Sweat testing in hypomelanosis of Ito: divergent results reflecting genetic heterogeneity.
European journal of dermatology : EJD 2000;10(3):217-9.
2000: Maurice A M van Steensel; Rudolf Happle; Peter M Steijlen
Molecular genetics of the hair follicle: the state of the art.
Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.) 2000;223(1):1-7.
1999: Maurice A M van Steensel; J Celli; J H van Bokhoven; Han G Brunner
Probing the gene expression database for candidate genes.
European journal of human genetics : EJHG 1999;7(8):910-9.
1999: Peter M Steijlen; Maurice A M van Steensel
Paradominant inheritance, a hypothesis explaining occasional familial occurrence of sporadic syndromes.
American journal of medical genetics 1999;85(4):359-60.
1999: Maurice A M van Steensel; Frances J D Smith; Peter M Steijlen; Irma Kluijt; Howard P Stevens; AG Messenger; Hannie Kremer; M G Dunnill; C Kennedy; Colin S Munro; V R Doherty; John A McGrath; Seana P Covello; CM Coleman; Jouni Uitto; W H Irwin McLean
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
American journal of human genetics 1999;65(2):413-9.
1999: Hans van Bokhoven; M Jung; Arie P T Smits; Sylvia van Beersum; Franz Rüschendorf; Maurice A M van Steensel; M Veenstra; Joep H A M Tuerlings; Edwin C M Mariman; Han G Brunner; T F Wienker; A Reis; H H Ropers; Ben C J Hamel
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
American journal of human genetics 1999;64(2):538-46.
1998: Maurice A M van Steensel; P M Steijlen
Hypomelanosis of Ito: a symptom, not a syndrome.
American journal of medical genetics 1998;80(4):435.
1998: Maurice A M van Steensel; R M Winter
Internet databases for clinical geneticists--an overview.
Clinical genetics 1998;53(5):323-30.
1998: Maurice A M van Steensel
Robinow syndrome.
Journal of medical genetics 1998;35(4):349-50.
1997: Maurice A M van Steensel; P M Steijlen
Genetics of psoriasis.
Clinics in dermatology 1997;15(5):669-75.
1997: Maurice A M van Steensel
Mirror hands and feet.
Journal of medical genetics 1997;34(8):701-2.
1997: Maurice A M van Steensel; P M Steijlen; J L Rees
Molecular genetic approaches to skin disease: keratins and keratinisation.
Journal of the Royal College of Physicians of London 1997;31(4):379-83.
1997: Maurice A M van Steensel; Pieter Buma; Maarten C de Waal Malefijt; F H van den Hoogen; Han G Brunner
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
American journal of medical genetics 1997;70(3):315-23.
1994: Maurice A M van Steensel; G N Homminga; Pieter Buma; H Olthuis; W B van den Berg
Optimization of cryopreservative procedures for human articular cartilage chondrocytes.
Archives of orthopaedic and trauma surgery 1994;113(6):318-21.