Arterial tortuosity syndrome: 40 new families and literature review

…, S Nampoothiri, K Pichler, K Prescott… - Genetics in …, 2018 - nature.com
Purpose We delineate the clinical spectrum and describe the histology in arterial tortuosity
syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and …

Measures of international competitiveness: a critical survey

PJ Buckley, CL Pass, K Prescott - Journal of marketing …, 1988 - Taylor & Francis
<p>An examination of the extant literature on competitiveness reveals a wide variety of
notions and extreme difficulties of measurement and application.</p> <p>Single measures of …

[HTML][HTML] Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

…, T Lester, RA Lewis, R Newbury-Ecob, K Prescott… - The Lancet, 2019 - thelancet.com
Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; …

Head and neck surgical oncology in the time of a pandemic: subsite‐specific triage guidelines during the COVID‐19 pandemic

…, L Joseph, J Diersing, K Prescott, K Heiberger… - Head & …, 2020 - Wiley Online Library
Background COVID‐19 pandemic has strained human and material resources around the
world. Practices in surgical oncology had to change in response to these resource limitations, …

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

…, D King, B Morland, B Pizer, K Prescott… - Journal of medical …, 2011 - jmg.bmj.com
Background Constitutional DICER1 mutations were recently reported to cause familial
pleuropulmonary blastoma (PPB). Aim To investigate the contribution and phenotypic spectrum of …

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

…, K Prescott, L Ramos, Z Stark, K Fieggen… - Human …, 2010 - Wiley Online Library
Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally
by neurological and sensory impairment, cachectic dwarfism, and photosensitivity. This …

[HTML][HTML] Discriminating power of localized three-dimensional facial morphology

…, KC Murphy, M Patton, B Pober, K Prescott… - The American Journal of …, 2005 - cell.com
Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an
experienced clinical geneticist even before a clinical examination and genotyping are …

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

…, K Tatton–Brown, K Chandler, K Prescott… - Journal of medical …, 2014 - jmg.bmj.com
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

[HTML][HTML] Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice

…, K Prescott, C Shaw-Smith, K Devriendt… - The Journal of …, 2009 - Am Soc Clin Investig
… Whole-mount embryo (J) and magnified views (K) of the pharyngeal region showed
reduced X-gal staining. (L) Hypoplastic right fourth PAA (arrow). (M) Coronal section across …

[HTML][HTML] The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant

…, M Dalton, PS Dimova, T Mattina, K Prescott… - European Journal of …, 2016 - nature.com
The Koolen-de Vries syndrome (KdVS; OMIM# 610443), also known as the 17q21. 31
microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) …