Suchergebnisse - "Norsworthy, Penny J"

PubPharm (11)

1

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease

enthalten in: Nature genetics | 2022

von Holstege, H. | Hulsman, M. | Charbonnier, C. | +98

CommentIn: Nat Rev Neurol. 2023 Jan;19(1):3. - PMID 36477429

2

A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

enthalten in: Nature communications | 2020

von Norsworthy, P. | Thompson, A. | Mok, T. | +8

3

Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat

enthalten in: Disease models & mechanisms | 2017

von Coan, P. | Hummel, O. | Garcia Diaz, A. | +7

4

Genetic analysis of the cardiac methylome at single nucleotide resolution in a model of human cardiovascular disease

enthalten in: PLoS genetics | 2014

von Johnson, M. | Mueller, M. | Adamowicz-Brice, M. | +14

5

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing : a population-based study

enthalten in: BMC medical genetics | 2014

von Norsworthy, P. | Vandrovcova, J. | Thomas, E. | +11

6

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2013

von Vandrovcova, J. | Thomas, E. | Atanur, S. | +9

7

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia

enthalten in: Molecular genetics & genomic medicine | 2013

von Thomas, E. | Atanur, S. | Norsworthy, P. | +8

8

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

enthalten in: Nature genetics | 2007

von Fanciulli, M. | Norsworthy, P. | Petretto, E. | +17

9

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

enthalten in: Nature | 2006

von Aitman, T. | Dong, R. | Vyse, T. | +19

CommentIn: Nature. 2006 Feb 16;439(7078):798-9. - PMID 16482142

10

Radiation hybrid mapping of 70 rat genes from a data set of differentially expressed genes

enthalten in: Mammalian genome : official journal of the International Mammalian Genome Society | 2002

von Wallace, C. | Ali, S. | Glazier, A. | +7