Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy [PDF]
, 2022 The term ‘inherited ichthyosis’ refers to a heterogeneous group of mendelian disorders of cornification that involve the integument with varying degrees of scaling. The management of ichthyosis poses a challenge for most physicians.
Abbas, Ossama M. +5 more
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Ichthyosen: Pathophysiologische Modelle der epidermalen Differenzierung [PDF]
, 2018 Zusammenfassung: Die Ichthyosen sind eine durch Schuppung oder Keratosen charakterisierte heterogene Krankheitsgruppe monogenetisch vererbter Verhornungsstörungen.
Hohl, D., Huber, M.
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UPDATED MOLECULAR GENETICS AND PATHOGENESIS OF ICHTHYOSES [PDF]
, 2011 2011-08Research into the molecular genetics and pathomechanisms of ichthyoses have advanced considerably, resulting in the identification of several causative genes and molecules underlying the disease.
42169, AKIYAMA, MASASHI
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Genetics of dark skin in mice [PDF]
, 2003 Chemical mutagenesis in the mouse is a powerful approach for phenotype-driven genetics, but questions remain about the efficiency with which new mutations ascertained by their phenotype can be localized and identified, and that knowledge applied to a ...
Fitch, K. R.
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Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]
, 2007 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
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Dystrophic epidermolysis bullosa:novel insights into the genotype-phenotype correlation and somatic mosaicism [PDF]
, 2013 Dystrofische epidermolysis bullosa (DEB) is een erfelijke huidaandoening, veroorzaakt door mutaties in het COL7A1 gen. Bij DEB ontstaan reeds door geringe wrijving blaren van de huid en slijmvliezen.
Akker, Peter Christiaan van den
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Diagnostic, etiologic, and genetic aspects of congenital ichthyoses at birth: Characteristics of the ECEMC cases [PDF]
, 2004 Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCThe Ichthyoses constitutes a large family of genetic skin diseases characterized by dry skin and variable degrees of blisters and scales.
Aparicio, P +22 more
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Inherited epidermolysis bullosa [PDF]
, 2010 Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
A Martinez-Mir +83 more
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Mutation of keratin gene in skin diseases [PDF]
, 2017 Koža je najveći i najteži organ ljudskog organizma. Upravo ona čini granicu, barijeru, između organizma i okoliša čime se uviđa i njena primarna uloga, odnosno zaštita.
Gašparac, Tonka
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An Incompletely Penetrant Col7a1 Mutation Causes Dystrophic Epidermolysis Bullosa And Epidermolysis Bullosa Pruriginosa [PDF]
, 2012 Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring most prominent on the extensor extremities.
Yang, Catherine
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