Works matching DE "SKIN disease genetics"
Results: 862
Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #596 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125
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- Publication type:
- Article
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #595 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/595.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 447, doi. 10.1002/humu.9124
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- Publication type:
- Article
Genetic analysis of Variegate Porphyria (VP) in Italy: Identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) geneCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #596 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/596.pdf
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 448, doi. 10.1002/humu.9125
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- Publication type:
- Article
Clinical improvement in psoriasis with specific targeting of interleukin-23.
- Published in:
- Nature, 2015, v. 521, n. 7551, p. 222, doi. 10.1038/nature14175
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- Publication type:
- Article
Gene therapy: Enzymes fix disease genes.
- Published in:
- Nature, 2013, v. 497, n. 7447, p. 8, doi. 10.1038/497008c
- Publication type:
- Article
Two siblings with Netherton syndrome.
- Published in:
- Turkish Journal of Medical Sciences, 2010, v. 40, n. 5, p. 819, doi. 10.3906/sag-0904-12
- Publication type:
- Article
Segmental multilayered argon plasma coagulation: effective therapy option for perianal and scrotal Hailey-Hailey disease.
- Published in:
- Colorectal Disease, 2011, v. 13, n. 7, p. 802, doi. 10.1111/j.1463-1318.2010.02313.x
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- Publication type:
- Article
Hay–Wells syndrome (AEC): a case report.
- Published in:
- Oral Diseases, 2006, v. 12, n. 5, p. 506, doi. 10.1111/j.1601-0825.2006.01227.x
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- Publication type:
- Article
Erysipelas-like Erythema: A Pathognomonic Rash in Children with Familial Mediterranean Fever.
- Published in:
- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 217, doi. 10.4274/BMJ.galenos.2023.2023.3-23
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- Publication type:
- Article
Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies.
- Published in:
- Genes, 2014, v. 5, n. 3, p. 615, doi. 10.3390/genes5030615
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- Publication type:
- Article
Generalized Skin Scaling in a Young Girl: A Quiz.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Multiple Basal Cell Carcinoma Arising in a Verrucous Epidermal Naevus: Clinical, Histological and Therapeutic Observations.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 4, p. 468, doi. 10.2340/00015555-2304
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- Publication type:
- Article
Acute Edema Blisters on a Skin Swelling: An Unusual Manifestation of Hereditary Angioedema.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Olive Oil, Sunflower Oil or no Oil for Baby Dry Skin or Massage: A Pilot, Assessor-blinded, Randomized Controlled Trial (the Oil in Baby SkincaRE [OBSeRvE] Study).
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 3, p. 323, doi. 10.2340/00015555-2279
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- Publication type:
- Article
Characterization of a Novel Mutation in the NCSTN Gene in a Large Chinese Family with Acne Inversa.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
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:
- Acta Dermato-Venereologica, 2014, v. 94, n. 6, p. 707, doi. 10.2340/00015555-1840
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- Publication type:
- Article
Expression of Class II Cytokine Genes in Children’s Skin.
- Published in:
- Acta Dermato-Venereologica, 2014, v. 94, n. 4, p. 386, doi. 10.2340/00015555-1717
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- Publication type:
- Article
A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Filaggrin Null-mutations May be Associated with a Distinct Subtype of Atopic Hand Eczema.
- Published in:
- Acta Dermato-Venereologica, 2010, v. 90, n. 5, p. 528, doi. 10.2340/00015555-0883
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- Publication type:
- Article
Pleomorphic Ichthyosis: Proposed Name for a Heterogeneous Group of Congenital Ichthyoses with Phenotypic Shifting and Mild Residual Scaling.
- Published in:
- Acta Dermato-Venereologica, 2010, v. 90, n. 5, p. 454, doi. 10.2340/00015555-0937
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- Publication type:
- Article
A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome.
- Published in:
- Acta Dermato-Venereologica, 2010, v. 90, n. 1, p. 95, doi. 10.2340/00015555-0769
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- Publication type:
- Article
Schöpf-Schulz-Passarge Syndrome: Further Delineation of the Phenotype and Genetic Considerations.
- Published in:
- Acta Dermato-Venereologica, 2008, v. 88, n. 6, p. 607, doi. 10.2340/00015555-0547
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- Publication type:
- Article
Congenital Ichthyosis: An Overview of Current and Emerging Therapies.
- Published in:
- Acta Dermato-Venereologica, 2008, v. 88, n. 1, p. 4, doi. 10.2340/00015555-0415
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- Publication type:
- Article
Novel and Recurrent KIND1 Mutations in Two Patients with Kindler Syndrome and Severe Mucosal Involvement.
- Published in:
- 2007
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- Publication type:
- Letter
Homozygous Missense Mutation in the ECM1 Gene in Chinese Siblings with Lipoid Proteinosis.
- Published in:
- Acta Dermato-Venereologica, 2007, v. 87, n. 5, p. 387, doi. 10.2340/00015555-0292
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- Publication type:
- Article
Haemochromatosis Gene Mutations and Response to Chloroquine in Sporadic Porphyria Cutanea Tarda.
- Published in:
- 2006
- By:
- Publication type:
- Case Study
A Fatal Case of Malignant Atrophic Papulosis (Degos' Disease) in a Man with Factor V Leiden Mutation and Lupus Anticoagulant.
- Published in:
- 2006
- By:
- Publication type:
- Case Study
KID Syndrome: Report of a Scandinavian Patient with Connexin‐26 Gene Mutation.
- Published in:
- Acta Dermato-Venereologica, 2005, v. 85, n. 2, p. 152, doi. 10.1080/00015550410024148
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- Publication type:
- Article
Immunohistochemical Examination of P-cadherin in Bullous and Acantholytic Skin Diseases.
- Published in:
- Acta Dermato-Venereologica, 2004, v. 84, n. 2, p. 116
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- Publication type:
- Article
Progress in Molecular Dermatology.
- Published in:
- 2001
- By:
- Publication type:
- Editorial
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Dyschromatosis universalis hereditaria: an infrequently occurring entity in Europe.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Cowden syndrome.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Pseudomonas oryzihabitans sepsis in a 1-year-old child with multiple skin rashes: a case report.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo -- Egypt.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2010, v. 11, n. 2, p. 167, doi. 10.1016/j.ejmhg.2010.03.001
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- Publication type:
- Article
Recent progress in melasma pathogenesis.
- Published in:
- Pigment Cell & Melanoma Research, 2015, v. 28, n. 6, p. 648, doi. 10.1111/pcmr.12404
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- Publication type:
- Article
Weepy pruritic rash in the groin.
- Published in:
- Baylor University Medical Center Proceedings, 2007, v. 20, n. 4, p. 402, doi. 10.1080/08998280.2007.11928332
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- Publication type:
- Article
Netherton's syndrome.
- Published in:
- 1989
- By:
- Publication type:
- Case Study
Role of the IL-23/IL-17 Axis in Psoriasis and Psoriatic Arthritis: The Clinical Importance of Its Divergence in Skin and Joints.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 530, doi. 10.3390/ijms19020530
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- Publication type:
- Article
Whole Exome Sequencing in Psoriasis Patients Contributes to Studies of Acitretin Treatment Difference.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 2, p. 295, doi. 10.3390/ijms18020295
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- Publication type:
- Article
The Potential of Plant Phenolics in Prevention and Therapy of Skin Disorders.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 2, p. 160, doi. 10.3390/ijms17020160
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- Publication type:
- Article
Use of CFSE staining of borreliae in studies on the interaction between borreliae and human neutrophils.
- Published in:
- BMC Microbiology, 2006, v. 6, p. 92, doi. 10.1186/1471-2180-6-92
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- Publication type:
- Article
Darier's disease--oral, general and histopathological features in a 7 year old child.
- Published in:
- 2016
- By:
- Publication type:
- journal article
RESTRICTIVE DERMOPATHY: REPORT AND REVIEW.
- Published in:
- Fetal & Pediatric Pathology, 2008, v. 27, n. 2, p. 105, doi. 10.1080/15513810802077586
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- Publication type:
- Article
Skin rash, a kidney mass and a family mystery dating back to World War II.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Desmosomal genodermatoses.
- Published in:
- Current Medical Literature: Dermatology, 2012, v. 17, n. 2, p. 58
- Publication type:
- Article
Genetics.
- Published in:
- 2010
- Publication type:
- Opinion