Experts and Doctors on syndrome in Nottingham, England, United Kingdom
Locale: Nottingham, England, United Kingdom
Terrett J, Newbury Ecob R, Cross G, Fenton I, Raeburn J, Young I, et al
. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nat Genet. 1994;6:401-4 pubmed
..The localization of a gene for HOS, reported here, represents an important step towards a better understanding of limb and cardiac development. ..
Pattrick M, Swannell A, Doherty M. Chlormezanone in primary fibromyalgia syndrome: a double blind placebo controlled study. Br J Rheumatol. 1993;32:55-8 pubmed
..Although there are problems in assessing severity of a predominantly subjective condition, this essentially negative finding is of interest in respect to the pathogenesis of PFS. ..
Fahy C, Carney A, Nikolopoulos T, Ludman C, Gibbin K. Cochlear implantation in children with large vestibular aqueduct syndrome and a review of the syndrome. Int J Pediatr Otorhinolaryngol. 2001;59:207-15 pubmed
..The aim of the present paper is to assess surgical and functional outcomes in implanted children with LVAS and review the related literature...
Packham E, Brook J. T-box genes in human disorders. Hum Mol Genet. 2003;12 Spec No 1:R37-44 pubmed
..This review describes the key features of these disorders and the involvement of T-box genes in their phenotype. ..
Todd I, Radford P, Ziegler Heitbrock L, Ghaemmaghami A, Powell R, Tighe P. Elevated CD16 expression by monocytes from patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2007;56:4182-8 pubmed
..The level of CD16 expression by monocytes was elevated in patients with TRAPS, as a feature of the underlying constitutive inflammation status. ..
Jeffcoate W. The causes of the Charcot syndrome. Clin Podiatr Med Surg. 2008;25:29-42, vi pubmed publisher
..The evidence for increased expression of RANKL and OPG in diabetes and neuropathy as well as its potential significance is reviewed...
Carrasquillo M, Barber I, Lincoln S, Murray M, Camsari G, Khan Q, et al
. Evaluating pathogenic dementia variants in posterior cortical atrophy. Neurobiol Aging. 2016;37:38-44 pubmed publisher
..In this first systematic variant screen of a PCA cohort, we report 2 rare mutations in TREM2 and PSEN2, validate our previously reported APOE Îµ4 association, and demonstrate the utility of NeuroX. ..