Results 111 to 120 of about 14,748 (240)

Rationalising the role of Keratin 9 as a biomarker for Alzheimer’s disease [PDF]

, 2016
Keratin 9 was recently identified as an important component of a biomarker panel which demonstrated a high diagnostic accuracy (87%) for Alzheimer’s disease (AD).
A Byron, A Panchaud, A Reddy, A Reis, AG Madian, AK Deo, B Catimel, B Vafadar-Isfahani, B von Eyss, BM Riederer, BS Fu, C Ballard, C Behrends, C Bohm, C Johnson, C Mueller, C Parr, CJ Tu, CW Guo, D Bohm, D Croft, D Croft, D Ghosh, DJ Araujo, DJ Fu, EA Otto, EJ Bennett, F Caraci, F Lopitz-Otsoa, G Singh, G van Niel, GN Yin, GV De Ferrari, GV De Ferrari, I Alafuzoff, J Colas, J Jin, J Kim, J Nicholson, JC Jones, JC Mellor, JD Humphries, JG Veening, JL Richens, JL Richens, JR Denery, JS Bett, KS Carmon, L Langbein, L Liu, L Sang, L Sennels, M Bassani-Sternberg, M Brehme, M Cortes-Canteli, M Homberg, M Noguchi, M Thambisetty, M Zhou, N Sato, P Buchhave, PC Havugimana, PG Hawkins, R Killick, R Moll, RL Prentice, S de Mateo, S Fatima, S Jiang, S Liebner, S Pan, SJ Roy, SK Jeong, T Bouwmeester, T Farrah, T Glatter, T Manabe, U Stelzl, WJ Qian, WJ Qian, X Li, X Liu, Y Fang, Y Shimomura, Y Yamaguchi, YS Kim, Z Hu, ZF Du   +87 more
core   +2 more sources

Olmsted syndrome with lateral supraciliary madarosis and clubbing: A rare case report

Indian Dermatology Online Journal, 2018
Olmsted syndrome (OS) is a rare congenital, mutilating palmoplantar keratoderma first described by Olmsted in 1927. It starts in the neonatal period or in childhood, and has a slow but progressive disabling course. We report the case of a 16-year-old boy
Md Zeeshan, Abhijeet K Jha, R. K. P Chaudhary   +2 more
doaj   +1 more source

Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma

Molecular Genetics & Genomic Medicine, 2019
Epidermolytic palmoplantar keratoderma (EPPK) is a rare skin disorder and its pathogenesis and inheritability are unknown.
Changxing Li, Ping-jiao Chen, Silong Sun, K. Zeng, Jingyao Liang, Qi Wang, Sanquan Zhang, Meinian Xu, Zhijia Li, Xibao Zhang   +9 more
semanticscholar   +1 more source

Zinser–Engmann–Cole syndrome: Two case report

Indian Journal of Paediatric Dermatology, 2019
We report two cases of dyskeratosis congenita. Case 1: An 11-year-old male child presented to us with severe anemia and pancytopenia resulting in cardiac failure, in addition to the classical clinical triad including skin atrophy with mottled ...
Bangaru Hanumaiah, Sathish Shankar, Nanjunda Swamy B Lingaiah   +2 more
doaj   +1 more source

Onychomadesis and palmoplantar keratoderma associated with talquetamab therapy for relapsed and refractory multiple myeloma

JAAD Case Reports, 2022
N. Narayan, Benjamin Williams, B. Lipe, A. de Benedetto   +3 more
semanticscholar   +1 more source

Study of three common mitochondrial mutations in Arab patients with nonsyndromic hearing loss in Khuzestan province, I.R.Iran [PDF]

, 2012
زمینه و هدف : ناشنوایی یکی از شایع ترین اختلالات حسی –عصبی است که در هر 1000 تولد زنده رخ می دهد. بیشتر ناشنوایی ها منشا ژنتیکی داشته و حدود 2-0 موارد ناشنوایی مربوط به جهش در ژن های میتوکندریایی است.
Abolhasani, Marzieh., Ataii, Zohreh., Azadegan-Dehkordi, Fatemeh., Banitalebi, Golandam., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Heydari, Soraya., Hoseinipoor, Azam., Montazerzohor, Mostafa., Reissi, Somayeh.   +9 more
core  

Bi-allelic Variants in LSS Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.

Journal of Investigative Dermatology, 2022
Fanghua Yang, Xingyuan Jiang, Yuhao Zhu, Mingyang Lee, Zhengren Xu, Jianglin Zhang, Qian Li, Mao-ying Lin, Huijun Wang, Zhimiao Lin   +9 more
semanticscholar   +1 more source

Issue Information

JEADV Clinical Practice, Volume 4, Issue 5, Page 953-958, December 2025.
wiley   +1 more source

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma

Frontiers in Oncology
Olmsted syndrome (OS) is a rare congenital skin disorder, typically characterized by symmetrical, severe palmoplantar and periorificial keratoderma, often accompanied by alopecia, and onychodystrophy, with varying degrees of pruritus and pain.
Yangyang Hao, Rong Wu, Xi Chen, Yunjia Shen, Mengwei Chou, Jianqiang Yang   +5 more
doaj   +1 more source

Screening of three common mtDNA mutations among subjects with autosomal recessive non-syndromic hearing loss in Sistan va Baluchestan province, Iran [PDF]

, 2011
Background: Non-syndromic hearing loss may be induced by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA are present in less than 1% of the children with pre-lingual deafness but are more prevalent later.
Abolhasani, Marzieh., Akbari, mohammad taghi., Ataei, Zohreh., Azadegan-Dehkordi, Fatemeh., Farrokhi, Effat., Hashemzadeh-Chaleshtori, Morteza., Khazraei, Hamid., Montazer Zohouri, Mostafa, Reisi, Somayeh, Saedi-Marghmaleki, Mojtaba., Shirmardi, Seyed Abolfath.   +10 more
core   +1 more source