Results 31 to 40 of about 371 (141)

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., Eid, Edward Said, Hamie, Lamiaa, Hasbani, Divina Justina, Kurban, Mazen S., Tamer, Christel   +5 more
core   +1 more source

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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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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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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Genetic Linkage of the Keratin Type II Gene Cluster with Ichthyosis Bullosa of Siemens and with Autosomal Dominant Ichthyosis Exfoliativa

Journal of Investigative Dermatology, 1994
Ichthyosis bullosa of Siemens is an autosomal dominant disease characterized by mild hyperkeratosis and blistering. Autosomal dominant ichthyosis exfoliativa is a recently described disease with clinical features similar to ichthyosis bullosa of Siemens, but in contrast to ichthyosis bullosa of Siemens no histologic signs typical for epidermolytic ...
Steijlen, Peter M, Kremer, Hannie, Vakilzadeh, Fereydoun, Happle, Rudolf, Lavrijsen, Adriana P M, Ropers, Hans-Hilger, Mariman, Edwin C M   +6 more
openaire   +2 more sources

A Glutamate to Lysine Mutation at the End of 2B Rod Domain of Keratin 2e Gene in Ichthyosis Bullosa of Siemens

Acta Dermato-Venereologica, 1998
Ichthyosis bullosa of Siemens is a rare autosomal dominant skin disorder whose clinical findings are quite similar to those of epidermolytic hyperkeratosis. The differences between those two diseases include absence of erythroderma and different distributions in the skin in ichthyosis bullosa of Siemens.
J M, Yang, E S, Lee, H J, Kang, G S, Choi, K, Yoneda, S Y, Jung, K B, Park, P M, Steinert, E S, Lee   +8 more
openaire   +2 more sources

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.
core   +2 more sources

Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1

Journal of Dermatological Science, 2013
open
Jae Yong Sung, Se-Woong Oh, Song Ee Kim, Soo-Chan Kim   +3 more
openaire   +2 more sources

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, Barcia, JM, Bermejo, E., Blanco, M, Centeno, F, Cuevas, L, Espinosa, MJ, Félix, V, Galán, E, García, A, García, MJ, García, MM, Gómez, F, Gómez, H, López Soler, JA, López-Grondona, F, Marco, JJ, Martínez-Frías, M.L, Mendioroz, J, Oliván del Cacho, MJ, Paisán L, Rodríguez-Pinilla, E, Vázquez, MS   +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, A Pasini, B Olaisen, B Zelickson, BJ Bart, CS Shemanko, D Koss-Harnes, DH Siegel, DJ Lichtenwald, DT Woodley, E Pfendner, F Mavilio, F Vidal, G Shabbir, G Tadini, GB Dowling, GH Ashton, H Hintner, H Koebner, H Shimizu, HIM Horn, J Remington, J Tolar, J-D Fine, J-D Fine, JA Bauer, JA McGrath, JA McGrath, JC Alper, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, JD Fine, Jo-David Fine, JT Wright, JT Wright, JT Wright, JT Wright, K Hashimoto, KE McKenna, L Bruckner-Tuderman, L Haynes, L Pulkkinen, LH Gu, M Furue, MA Touraine, MAM Salih, MD Varari, MF Jonkman, O Herlitz, OMV Schofield, R Varki, RA Eady, RAJ Eady, RJ Phillips, S Ferrari, T Fischer, T Wong, WH McLean, WHI McLean, Y Inaba, Z Pavicic   +83 more
core   +3 more sources