Results 31 to 40 of about 167,440,664 (116)

Disorders of the Epidermis

, 2017
Chapter 2 covers Ichthyoses (Bullous Congenital Ichthyosiform Erythroderma, Harlequin Ichthyosis, Ichthyosis Bullosa of Siemens, Ichthyosis Hystrix, Ichthyosis Vulgaris, Lamellar Exfoliation of the Newborn, Lamellar Ichthyosis/Nonbullous Congenital ...
Virginia P. Sybert
core   +1 more source

Ictiosis ampollosa de Siemens [PDF]

, 2003
La ictiosis ampollosa de Siemens es un desorden autosómico dominante de la queratinización, caracterizado por hiperqueratosis epidermolítica sin eritrodermia.
Arango Vélez, Rafael, Hoyos Zuluaga, Ana María   +1 more
core  

A Siemens története Magyarországon : 1887–2017

, 2017
Kiadvány a 170 éves Siemens magyarországi 130 éves jelenlétéről, leányvállalatainak fejlődéséről, a csoport szerepéről a hazai gazdasági életben, városfejlődésben ...
Sebők, Orsolya
core   +2 more sources

A Novel Threonine → Proline Mutation at the End of 2B Rod Domain in the Keratin 2e Chain in Ichthyosis Bullosa of Siemens

Journal of Investigative Dermatology, 1997
We report a novel mutation in a case of ichthyosis bullosa of Siemens that results in a threonine --> proline substitution in a novel location, codon 485 in a highly conserved residue position of the IATYRKLLEGE consensus motif at the end of the 2B rod domain segment of the keratin 2e chain.
Yang, Jun-Mo, Lee, Seewoo, Bang, Hyeong-Don, Kim, Won-Serk, Lee, Eil-Soo, Steinert, Peter M.   +5 more
openaire   +2 more sources

The Genetics of Atopic Eczema in the Bangladeshi population of East London [PDF]

, 2009
PhDAtopic Eczema (AE) is a common, complex, genetic skin disease. It usually begins in infancy and can affect any part of the body but often occurs in the flexures of the elbows and knees. The cohort used in this study is of Bangladeshi origin and all
Sinclair, Claire
core   +1 more source

Epidermolysis bullosa: how social support affects quality of life

, 2018
Measuring quality of life has become an increasingly important method of evaluating the effect of health and social care interventions. The rare genetic condition epidermolysis bullosa is known to have a deep social impact on people’s quality of life ...
Butterworth, Sondra, Martin, Kate, Mason-Whitehead, Elizabeth, Mitchell, Andrew E. P.   +3 more
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

Ichthyosis bullosa of Siemens : a distinct type of epidermolytic hyperkeratosis [PDF]

, 1996
Contains fulltext : 24062___.PDF (Publisher’s version ) (Open Access)
Lenzner, U., Happle, R., Kremer, H., Mensing, H., Reinel, D., Steijlen, P.M., Ulrich, R.   +6 more
openaire  

Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants. [PDF]

Ann Dermatol, 2023
Kwon HJ, Yoo DW, Yoon JH, Kim N, Kim KH.
europepmc   +1 more source

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in <i>KRT2</i>. [PDF]

Int J Mol Sci, 2022
Suzuki Y, Takeichi T, Tanahashi K, Muro Y, Suga Y, Ogi T, Akiyama M.   +6 more
europepmc   +1 more source