Results 101 to 110 of about 5,711 (254)
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
core +3 more sources
S‐acylation of Ca2+ transport proteins in cancer
Chronic Diseases and Translational Medicine, Volume 10, Issue 4, Page 263-280, December 2024.The implication of Ca2+ transport proteins in cancer has been previously documented in several studies recently reviewed. Transporters highlighted in red have been biochemically documented to be S‐acylated. Abstract Alterations in cellular calcium (Ca2+) signals have been causally associated with the development and progression of human cancers ...
Sana Kouba, Nicolas Demaurex
wiley +1 more source
Über Hypotrichosis (Alopecia congenita) [PDF]
Archiv für Dermatologie und Syphilis, 1910 n ...
openaire +2 more sources
Skin changes in chronic lymphatic filariasis [PDF]
, 2017 Seventeen men and 31 women with unilateral lower limb lymphoedema attributed to chronic lymphatic filariasis were examined in the filarial out-patient clinic of the Government General Hospital, Madras, India.
Burri, Haran +3 more
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The human SOX18 gene: Expression analysis and characterization of its 5’ flanking region [PDF]
, 2007 The aim of this study was to establish an adequate in vitro model system for studying transcriptional regulation of the human SOX18 gene. The paper presents an analysis of expression of this gene in cultured cell lines and characterization of its 5 ...
Petrović Isidora, Stevanović Milena
core +1 more source
A clinical and molecular characterisation of CRB1-associated maculopathy [PDF]
, 2018 To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa.
A Slavotinek +56 more
core +3 more sources
Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature
Journal of Indian Academy of Oral Medicine and Radiology, 2010 Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi +2 more
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Woolly hair nevus: case report and review of literature [PDF]
, 2020 Woolly hair nevus consists of a patch of curly and hypopigmented hair that is restricted to an area of the scalp. It is usually benign but it can be associated with other systemic findings.
Gomes, Tiago Fernandes +2 more
core
Hypohidrotic Ectodermal Dysplasia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chiranjit Ghosh +2 more
doaj +1 more source
Christ — Siemens — Touraine syndrome (ectodermal anhydrone dysplasia) [PDF]
Саратовский научно-медицинский журнал, 2011 The article is concerned with observation of a child of 3,5 with hereditary Krista — Seimens — Turena syndrome.
Kuznetsova М.А., Karalskaya J.J.
doaj