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Natural moisturizing factor as a biomarker for filaggrin mutation status in a multi‐ethnic paediatric atopic dermatitis cohort.
- Published in:
- Clinical & Experimental Allergy, 2021, v. 51, n. 11, p. 1510, doi. 10.1111/cea.14001
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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
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
- Published in:
- Journal of Cellular & Molecular Medicine, 2009, v. 13, n. 5, p. 959, doi. 10.1111/j.1582-4934.2009.00690.x
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- Publication type:
- Article
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
- Published in:
- 2001
- By:
- Publication type:
- journal article
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".
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Late Onset of Skin Manifestations in Birt-Hogg-Dubé Syndrome with FLCN Mutation p. W260X.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
An Unusual Missense Mutation in the GJB3 Gene Resulting in Severe Erythrokeratodermia Variabilis.
- Published in:
- 2011
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- Publication type:
- Case Study
Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.
- Published in:
- Archives of Dermatological Research, 2018, v. 310, n. 7, p. 599, doi. 10.1007/s00403-018-1848-2
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- Publication type:
- Article
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2023, v. 37, n. 4, p. e486, doi. 10.1111/jdv.18699
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- Publication type:
- Article
Detection of PTCH1 Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.
- Published in:
- Biomedicines, 2024, v. 12, n. 2, p. 330, doi. 10.3390/biomedicines12020330
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- Publication type:
- Article
New mutations and an updated database for the patched-1 (PTCH1) gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 409, doi. 10.1002/mgg3.380
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- Publication type:
- Article
Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.
- Published in:
- Dermatology (10188665), 2024, v. 240, n. 1, p. 170, doi. 10.1159/000533934
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- Publication type:
- Article
The Skin and Nose Microbiome and Its Association with Filaggrin Gene Mutations in Pediatric Atopic Dermatitis.
- Published in:
- Dermatology (10188665), 2022, v. 238, n. 5, p. 928, doi. 10.1159/000520978
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- Publication type:
- Article
Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome*.
- Published in:
- British Journal of Dermatology, 2022, v. 187, n. 6, p. 948, doi. 10.1111/bjd.21842
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- Publication type:
- Article
STS pathogenic variants in a Dutch patient cohort clinically suspected for X‐linked ichthyosis show genetic heterogeneity.
- Published in:
- British Journal of Dermatology, 2022, v. 187, n. 5, p. 820, doi. 10.1111/bjd.21775
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- Publication type:
- Article
Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation.
- Published in:
- Neuro-Oncology, 2021, v. 23, n. 6, p. 1035, doi. 10.1093/neuonc/noab048
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- Publication type:
- Article
Source and component genes of a 6–200 Mb gene cluster in the house mouse.
- Published in:
- Mammalian Genome, 2001, v. 12, n. 8, p. 590, doi. 10.1007/s00335-001-3015-9
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- Publication type:
- Article
Birt–Hogg–Dubé syndrome is a novel ciliopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4383, doi. 10.1093/hmg/ddt288
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- Publication type:
- Article
Detection of a putative 30-kDa ligand of the cluster-2 antigen.
- Published in:
- International Journal of Cancer, 1994, v. 57, p. 70, doi. 10.1002/ijc.2910570715
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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
- By:
- 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
Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 5, p. 581, doi. 10.1093/hmg/5.5.581
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- Publication type:
- Article
A new locus-specific database (LSDB) for mutations in the folliculin ( FLCN) gene.
- Published in:
- 2010
- By:
- Publication type:
- Other
Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?
- Published in:
- Human Mutation, 2007, v. 28, n. 12, p. 1241, doi. 10.1002/humu.20587
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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
- By:
- Publication type:
- Other
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.
- Published in:
- Experimental Dermatology, 2008, v. 17, n. 4, p. 362, doi. 10.1111/j.1600-0625.2007.00648.x
- By:
- Publication type:
- Article
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
- Published in:
- Experimental Dermatology, 2006, v. 15, n. 9, p. 735, doi. 10.1111/j.1600-0625.2006.00470.x
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- Publication type:
- Article
Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S13, p. S19, doi. 10.1002/mus.880181306
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- Publication type:
- Article
Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 9, p. 2184, doi. 10.1038/jid.2012.143
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- Publication type:
- Article
Digenic Inheritance of Mutations in the Coproporphyrinogen Oxidase and Protoporphyrinogen Oxidase Genes in a Unique Type of Porphyria.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 11, p. 2249, doi. 10.1038/jid.2011.186
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- Publication type:
- Article
Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol Metabolism.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 11, p. 2242, doi. 10.1038/jid.2011.189
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- Publication type:
- Article
Functional Analysis of FLT4 Mutations Associated with Nonne–Milroy Lymphedema.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Loss of Heterozygosity Studies on Chromosome 12q in Disseminated Superficial Actinic Porokeratosis: Lessons to be Learned.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients.
- Published in:
- Journal of Investigative Dermatology, 2007, v. 127, n. 3, p. 588, doi. 10.1038/sj.jid.5700592
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
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
Cryptic Splicing at a Non-Consensus Splice-Donor in a Patient with a Novel Mutation in the Plakophilin-1 Gene.
- Published in:
- 2004
- By:
- Publication type:
- Letter
ORIGINAL ARTICLE Clouston Syndrome Can Mimic Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 121, n. 5, p. 1035, doi. 10.1046/j.1523-1747.2003.12527.x
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article