Pharmacogenetics of CYP2C19: functional and clinical implications of a new variant CYP2C19* 17

A Li‐Wan‐Po, T Girard, P Farndon… - British journal of …, 2010 - Wiley Online Library
WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT • CYP2C19 polymorphisms may have
clinical consequences in relation to drugs extensively metabolized by the enzyme. • …

[PDF][PDF] A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma …

…, C Moss, M Golabi, SK Shapira, PA Farndon… - The American Journal of …, 2000 - cell.com
Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine
sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal …

[HTML][HTML] Genetic information and testing in insurance and employment: technical, social and ethical issues

…, M Pembrey, M Bobrow, P Farndon… - European Journal of …, 2003 - nature.com
The present paper examines the professional and scientific views on the social, ethical and
legal issues that impact on genetic information and testing in insurance and employment in …

Location of gene for Gorlin syndrome

PA Farndon, RG Del Mastro, MW Kilpatrick… - The Lancet, 1992 - Elsevier
The Gorlin (naevoid-basal-cell-carcinoma) syndrome is an autosomal dominant disorder
characterised by multiple naevoid basal-cell carcinomas, recurrent odontogenic keratocysts, …

The fetal valproate syndrome

JH DiLiberti, PA Farndon, NR Dennis… - American journal of …, 1984 - Wiley Online Library
We evaluated seven children who had been exposed to sodium valproate (or valproic acid)
in utero. A consistent facial phenotype was observed in all seven in addition to other birth …

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

…, RM Shepherd, PD Barnes, RE O'Brien, PA Farndon… - Nature …, 2000 - nature.com
Usher syndrome type 1 describes the association of profound, congenital sensorineural
deafness, vestibular hypofunction and childhood onset retinitis pigmentosa 1. It is an autosomal …

[PDF][PDF] Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

…, JRO Collin, DO Robinson, P Farndon… - The American Journal of …, 2008 - cell.com
Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are
heterogeneous disorders with frequent sporadic or non-Mendelian inheritance. Recurrent …

[HTML][HTML] Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research

…, J Coad, GM Plumridge, P Gill, P Farndon - European Journal of …, 2008 - nature.com
In families affected by an inherited genetic condition, parents face a difficult task of having to
communicate genetic risk information to their children. A systematic review of all major …

[PDF][PDF] A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene

AM Salo, H Cox, P Farndon, C Moss, H Grindulis… - The American Journal of …, 2008 - cell.com
Lysyl hydroxylase 3 (LH3, encoded by PLOD3) is a multifunctional enzyme capable of catalyzing
hydroxylation of lysyl residues and O-glycosylation of hydroxylysyl residues producing …

[PDF][PDF] Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes

…, CA Stevens, N Roche, O Bartsch, P Farndon… - The American Journal of …, 2015 - cell.com
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare
congenital ectodermal dysplasias characterized by similar clinical features. To establish the …