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Autochthonous Creeping Eruption in an Italian Child.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6901, doi. 10.3390/ijms22136901
- By:
- Publication type:
- Article
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren–Larsson syndrome.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 10, p. 865, doi. 10.1007/s10038-007-0180-z
- By:
- Publication type:
- Article
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3104, doi. 10.1002/ajmg.a.34335
- By:
- Publication type:
- Article
THREE-DIMENSIONAL DISTRIBUTION OF BASEMENT MEMBRANE COMPONENTS IN DYSTROPHIC RECESSIVE EPIDERMOLYSIS BULLOSA.
- Published in:
- Journal of Pathology, 1996, v. 179, n. 4, p. 427, doi. 10.1002/(SICI)1096-9896(199608)179:4<427::AID-PATH608>3.0.CO;2-T
- By:
- Publication type:
- Article
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 833, doi. 10.1038/ng2052
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- Publication type:
- Article
Management of Craniofacial Development in the Parry-Romberg Syndrome: Report of Two Patients.
- Published in:
- Cleft Palate Craniofacial Journal, 2004, v. 41, n. 1, p. 95, doi. 10.1597/02-066
- By:
- Publication type:
- Article
Trigeminal neurotrophic ulceration in Wallenberg's syndrome.
- Published in:
- International Journal of Dermatology, 2009, v. 48, n. 4, p. 443, doi. 10.1111/j.1365-4632.2009.03920.x
- By:
- Publication type:
- Article
Multiple cutaneous granular cell tumors, joint hypermobility and mild facial dysmorphism in a child.
- Published in:
- International Journal of Dermatology, 2006, v. 45, n. 7, p. 847, doi. 10.1111/j.1365-4632.2004.02476.x
- By:
- Publication type:
- Article
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1298, doi. 10.1038/ejhg.2014.18
- By:
- Publication type:
- Article
Amoxicillin-induced bullous pemphigoid in a child.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 1996, v. 6, n. 2, p. 167, doi. 10.1111/j.1468-3083.1996.tb00161.x
- By:
- Publication type:
- Article
Topical Tacrolimus and 50% Zinc Oxide Paste for Hailey-Hailey Disease: Less is More.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Complementary and Alternative Medicine: Knowledge and Attitudes among Dermatologists.
- Published in:
- Acta Dermato-Venereologica, 2009, v. 89, n. 6, p. 642, doi. 10.2340/00015555-0708
- By:
- Publication type:
- Article
Reproducibility of Severity Rating for Atopic Dermatitis.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Dermatitis Artefacta in a Child.
- Published in:
- Pediatric Dermatology, 2007, v. 24, n. 5, p. E51, doi. 10.1111/j.1525-1470.2007.00441.x
- By:
- Publication type:
- Article
Congenital Lupus Erythematosus: Case Report and Review of the Literature.
- Published in:
- Pediatric Dermatology, 2005, v. 22, n. 3, p. 240, doi. 10.1111/j.1525-1470.2005.22313.x
- By:
- Publication type:
- Article
Association of Piebaldism and Neurofibromatosis Type 1 in a Girl.
- Published in:
- Pediatric Dermatology, 2001, v. 18, n. 6, p. 490, doi. 10.1046/j.1525-1470.2001.1862005.x
- By:
- Publication type:
- Article
Perianal Cutaneous Larva Migrans in a Child.
- Published in:
- Pediatric Dermatology, 1998, v. 15, n. 5, p. 367, doi. 10.1046/j.1525-1470.1998.1998015367.x
- By:
- Publication type:
- Article
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 12, p. 1192, doi. 10.2340/00015555-3291
- By:
- Publication type:
- Article
Clinical Expression and New SPINK5 Splicing Defects in Netherton Syndrome: Unmasking a Frequent Founder Synonymous Mutation and Unconventional Intronic Mutations.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 1, p. 575, doi. 10.1038/jid.2011.366
- By:
- Publication type:
- Article
Extracellular Matrix Protein 1 Gene (ECM1 ) Mutations in Lipoid Proteinosis and Genotype-Phenotype Correlation.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 120, n. 3, p. 345, doi. 10.1046/j.1523-1747.2003.12073.x
- By:
- Publication type:
- Article
Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 6, p. 1456, doi. 10.1046/j.1523-1747.2002.19606.x
- By:
- Publication type:
- Article
Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 118, n. 2, p. 352, doi. 10.1046/j.1523-1747.2002.01603.x
- By:
- Publication type:
- Article
Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 6, p. 1391, doi. 10.1046/j.0022-202X.2001.01565.x
- By:
- Publication type:
- Article
Eyelid milia en plaque: a treatment challenge with a new CO<sub>2</sub> fractional laser.
- Published in:
- Dermatologic Therapy, 2014, v. 27, n. 2, p. 65, doi. 10.1111/dth.12049
- By:
- Publication type:
- Article
A Common Insertion Mutation in COL7A1 in Two Italian Families With Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 106, n. 4, p. 679, doi. 10.1111/1523-1747.ep12345508
- By:
- Publication type:
- Article
A Glycine-to-Arginine Substitution in the Triple-Helical Domain of Type VII Collagen in a Family with Dominant Dystrophic Epidermolysis Bullosa.
- Published in:
- Journal of Investigative Dermatology, 1995, v. 104, n. 3, p. 438, doi. 10.1111/1523-1747.ep12666033
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- Publication type:
- Article
Letter: The most dangerous type of toe web 'infection'.
- Published in:
- International Wound Journal, 2012, v. 9, n. 1, p. 108, doi. 10.1111/j.1742-481X.2011.00873.x
- By:
- Publication type:
- Article
Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress.
- Published in:
- BMC Cell Biology, 2005, v. 6, p. 27, doi. 10.1186/1471-2121-6-27
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- Publication type:
- Article
Co-Localization of Susceptibility Loci for Psoriasis (PSORS4) and Atopic Dermatitis (ATOD2) on Human Chromosome 1q21.
- Published in:
- Human Heredity, 2006, v. 61, n. 4, p. 229, doi. 10.1159/000095059
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- Publication type:
- Article
PSORS2 Markers Are Not Associated with Psoriatic Arthritis in the Italian Population.
- Published in:
- Human Heredity, 2006, v. 61, n. 2, p. 120, doi. 10.1159/000093529
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- Publication type:
- Article
Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
- Published in:
- PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195792
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- Publication type:
- Article