Found: 78
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Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2011, v. 25, n. 5, p. 592, doi. 10.1111/j.1468-3083.2010.03782.x
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- Publication type:
- Article
A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli–Franceschetti–Jadassohn phenotype.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Focal acral hyperkeratosis and acrokeratoelastoidosis: birds of a feather?
- Published in:
- 2009
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- Publication type:
- Letter
Cutibacteriumacnes: Much ado about maybe nothing much.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 10, p. 1471, doi. 10.1111/exd.14394
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- Publication type:
- Article
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1106, doi. 10.1111/exd.13542
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- Publication type:
- Article
On the TRAIL to truth, or on a road to nowhere?
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 3, p. 225, doi. 10.1111/exd.13231
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- Publication type:
- Article
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes.
- Published in:
- Experimental Dermatology, 2011, v. 20, n. 5, p. 408, doi. 10.1111/j.1600-0625.2010.01222.x
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- Publication type:
- Article
Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
- Published in:
- 2009
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- Publication type:
- Other
Granulomatous rosacea and Crohn’s disease in a patient homozygous for the Crohn-associated NOD2/CARD15 polymorphism R702W.
- Published in:
- 2008
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- Publication type:
- Letter
Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility.
- Published in:
- Oncogene, 2011, v. 30, n. 10, p. 1159, doi. 10.1038/onc.2010.497
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- Publication type:
- Article
An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 3, p. 365
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- Publication type:
- Article
Retinoic acid metabolism blocking agents (RAMBAs): a new paradigm in the treatment of hyperkeratotic disorders.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2008, v. 6, n. 5, p. 355, doi. 10.1111/j.1610-0387.2007.06541.x
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- Publication type:
- Article
Retinoic Acid Metabolism Blocking Agents (RAMBAs): eine neue Option zur Behandlung von Verhornungsstörungen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2008, v. 6, n. 5, p. -1, doi. 10.1111/j.1610-0387.2008.06541_supp.x
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- Publication type:
- Article
Monoclonal Origin of Anatomically Distinct Basal Cell Carcinomas: Is there Really Hard Evidence at Hand?
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- 2006
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- Publication type:
- Letter
Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 3, p. 607, doi. 10.1038/sj.jid.5700152
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- Publication type:
- Article
Lamin Processing Comes of Age.
- Published in:
- 2005
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- Publication type:
- Editorial
Does Recessive EKV Exist?
- Published in:
- 2005
- By:
- Publication type:
- Letter
A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation.
- Published in:
- 2004
- By:
- Publication type:
- Letter
A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 4, p. 724, doi. 10.1046/j.1523-1747.2002.01735.x
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- Publication type:
- Article
Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- 2009
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- Publication type:
- Correction notice
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 228, doi. 10.1038/ng.276
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- Publication type:
- Article
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
- Published in:
- Nature Genetics, 2007, v. 39, n. 5, p. 650, doi. 10.1038/ng2020
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- Publication type:
- Article
A Case of Juvenile Bullous Pemphigoid— Successful Treatment with Diaminodiphenylsulfone and Prednisone.
- Published in:
- Pediatric Dermatology, 2009, v. 26, n. 1, p. 55, doi. 10.1111/j.1525-1470.2008.00822.x
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- Publication type:
- Article
Neonatal Langerhans’ cell histiocytosis: a rare and potentially life-threatening disease.
- Published in:
- International Journal of Dermatology, 2008, v. 47, p. 10, doi. 10.1111/j.1365-4632.2008.03950.x
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- Publication type:
- Article
Lymphedema in Prader–Willi syndrome.
- Published in:
- International Journal of Dermatology, 2008, v. 47, p. 42, doi. 10.1111/j.1365-4632.2008.03959.x
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- Publication type:
- Article
Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.
- Published in:
- International Journal of Dermatology, 2008, v. 47, p. 45, doi. 10.1111/j.1365-4632.2008.03960.x
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- Publication type:
- Article
Lymphedema–distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.
- Published in:
- International Journal of Dermatology, 2008, v. 47, p. 52, doi. 10.1111/j.1365-4632.2008.03962.x
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- Publication type:
- Article
Bullous congenital ichthyosiform erythroderma of Brocq.
- Published in:
- International Journal of Dermatology, 2007, v. 46, p. 36, doi. 10.1111/j.1365-4632.2007.03510.x
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- Publication type:
- Article
Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis.
- Published in:
- BMC Developmental Biology, 2016, v. 16, p. 1, doi. 10.1186/s12861-016-0119-8
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- Publication type:
- Article
Novel <italic>CLDN1</italic> mutation in ichthyosis‐hypotrichosis‐sclerosing cholangitis syndrome without signs of liver disease.
- Published in:
- 2018
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- Publication type:
- Case Study
Linkage refinement of Bazex-Dupré-Christol syndrome to an 11·4-Mb interval on chromosome Xq25-27.1.
- Published in:
- British Journal of Dermatology, 2011, v. 165, n. 1, p. 201, doi. 10.1111/j.1365-2133.2011.10219.x
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- Publication type:
- Article
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.
- Published in:
- British Journal of Dermatology, 2011, v. 164, n. 1, p. 197, doi. 10.1111/j.1365-2133.2010.10058.x
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- Publication type:
- Article
Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype.
- Published in:
- British Journal of Dermatology, 2010, v. 163, n. 1, p. 205, doi. 10.1111/j.1365-2133.2010.09794.x
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- Publication type:
- Article
Phenotypic variability associated with WNT10A nonsense mutations.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.
- Published in:
- British Journal of Dermatology, 2010, v. 162, n. 3, p. 690, doi. 10.1111/j.1365-2133.2009.09543.x
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- Publication type:
- Article
Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda.
- Published in:
- British Journal of Dermatology, 2009, v. 160, n. 4, p. 878, doi. 10.1111/j.1365-2133.2008.08980.x
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- Publication type:
- Article
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
- Published in:
- British Journal of Dermatology, 2009, v. 160, n. 3, p. 707, doi. 10.1111/j.1365-2133.2008.09000.x
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- Publication type:
- Article
Defects in DNA mismatch repair do not account for early-onset basal cell carcinoma.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Erysipelas as a sign of subclinical primary lymphoedema: a prospective quantitative scintigraphic study of 40 patients with unilateral erysipelas of the leg.
- Published in:
- British Journal of Dermatology, 2008, v. 158, n. 6, p. 1210, doi. 10.1111/j.1365-2133.2008.08503.x
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- Publication type:
- Article
Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked?
- Published in:
- British Journal of Dermatology, 2007, v. 157, n. 6, p. 1087, doi. 10.1111/j.1365-2133.2007.08253.x
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- Publication type:
- Article
Novel EBP gene mutations in Conradi–Hünermann–Happle syndrome.
- Published in:
- British Journal of Dermatology, 2007, v. 157, n. 6, p. 1225, doi. 10.1111/j.1365-2133.2007.08254.x
- By:
- Publication type:
- Article
The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Oral liarozole vs. acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled study.
- Published in:
- British Journal of Dermatology, 2007, v. 156, n. 5, p. 965, doi. 10.1111/j.1365-2133.2006.07745.x
- By:
- Publication type:
- Article
A new type of erythrokeratoderma, or KLICK syndrome?: reply from authors.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Molecular aetiology and pathogenesis of basal cell carcinoma.
- Published in:
- British Journal of Dermatology, 2005, v. 152, n. 6, p. 1108, doi. 10.1111/j.1365-2133.2005.06587.x
- By:
- Publication type:
- Article
A new type of erythrokeratoderma.
- Published in:
- British Journal of Dermatology, 2005, v. 152, n. 1, p. 155, doi. 10.1111/j.1365-2133.2005.06319.x
- By:
- Publication type:
- Article
A third case of HOPP syndrome—confirmation of the phenotype.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Does progressive symmetric erythrokeratoderma exist?
- Published in:
- 2004
- By:
- Publication type:
- Letter
Immunohistochemical Analysis of the Mechanistic Target of Rapamycin and Hypoxia Signalling Pathways in Basal Cell Carcinoma and Trichoepithelioma.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106427
- By:
- Publication type:
- Article
Topical Rapamycin as a Treatment for Fibrofolliculomas in Birt-Hogg-Dubé Syndrome: A Double-Blind Placebo-Controlled Randomized Split-Face Trial.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0099071
- By:
- Publication type:
- Article