Results 71 to 80 of about 4,034 (148)

Clinical and Radiological Advances in Autoimmune GFAP Astrocytopathy: Analysis of 387 Patients in Japan

Clinical and Experimental Neuroimmunology, Volume 16, Issue 2, Page 174-187, May 2025.
ABSTRACT Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy (GFAP‐A) is an autoimmune inflammatory central nervous system disease. Recent neuropathological findings indicate that GFAP‐specific cluster of differentiation (CD)8+ T cells are likely the effectors of GFAP‐A.
Akio Kimura
wiley   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Olmsted's Syndrome [PDF]

Journal of the Royal Society of Medicine, 1997
A P, Armstrong, N, Percival
openaire   +4 more sources

Eine neuartige MBTPS2‐Missense‐Variante identifiziert Keratosis follicularis spinulosa decalvans in einem Fall von neonataler Erythrodermie

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-397, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Olmsted Syndrome: a case report

RGUHS Journal of Medical Sciences, 2017
Olmsted syndrome is a rare keratinisation disorder characterised by mutilating palmoplantar keratoderma with peri-orificial hyperkeratosis. Till now around 73 cases have been reported. We are reporting a case of 3 year old female child with keratoderma of palms and soles since birth along with peri-orificial hyperkeratosis flexion deformity of digits ...
KY Guruprasad, Mohammed Waseem Javed
openaire   +1 more source

Olmsted syndrome: immunodysregulation with TRPV3 mutation

, 2013
Introduction: Olmsted syndrome (OS) is a rare congenital skin disorder presenting with a combination of hyperkeratotic lesions and palmoplantar keratoderma severe enough to result in spontaneous digit amputation. It is often associated with infections of
Renard, Marleen, Dooley, James, Staats, Kim, Van Geet, Chris, Van De Velde, Marc, Schaballie, Heidi, Danso-Abeam, Dina, Meyts, Isabelle, Van Eyck, Lien, Van Brussel, Thomas, Zhang, Jianguo, Tao, Jinsheng, Franckaert, Dean, Humblet-Baron, Stephanie, Lambrechts, Diether, Liston, Adrian, Hauben, Esther, Zaman, Shari, Morren, Marie-Anne   +18 more
core  

Association of Metabolic Syndrome with Various Forms of Optic Neuropathy in Olmsted County

, 2022
To determine whether metabolic syndrome (MetS) is a risk factor for various forms of optic neuropathy including nonarteritic anterior ischemic optic neuropathy (NAION) and optic disc drusen (ODD)
Gavin Roddy; Darrell Kohli
core  

Overlap of gastro-oesophageal reflux disease and irritable bowel syndrome: Prevalence and risk factors in the general population

, 2018
Background: Gastro-oesophageal reflux disease (GERD) and irritable bowel syndrome may occur more often than expected by chance, but little community data exists and risk factors are unknown.
정혜경
core   +1 more source

Exploration of the immunological phenotype of Olmsted syndrome

, 2013
Introduction: Olmsted syndrome (OS) is a rare congenital skin disorder presenting with a combination of hyperkeratotic lesions and palmoplantar keratoderma severe enough to result in spontaneous digit amputation. It is often associated with infections of
Renard, Marleen, Dooley, James, Staats, Kim, Van De Velde, Marc, Schaballie, Heidi, Danso-Abeam, Dina, Meyts, Isabelle, Van Geet, Christel, Van Eyck, Lien, Van Brussel, Thomas, Zhang, Jianguo, Tao, Jinsheng, Franckaert, Dean, Humblet-Baron, Stephanie, Lambrechts, Diether, Liston, Adrian, Hauben, Esther, Zaman, Shari, Morren, Marie-Anne   +18 more
core  

Using a Parent Survey to Advance Knowledge About the Nature and Consequences of Fragile X Syndrome

, 2010
Understanding the nature and consequences of intellectual and developmental disabilities is challenging, especially when the condition is rare, affected individuals are geographically dispersed, and/or resource constraints limit large-scale studies ...
Donald B. Bailey, Melissa Raspa, Murrey G. Olmsted   +2 more
core   +1 more source