[HTML][HTML] Design of a high density SNP genotyping assay in the pig using SNPs identified and characterized by next generation sequencing technology

AM Ramos, RPMA Crooijmans, NA Affara, AJ Amaral… - PloS one, 2009 - journals.plos.org
Background The dissection of complex traits of economic importance to the pig industry
requires the availability of a significant number of genetic markers, such as single nucleotide …

Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan

…, PA Crossey, AR Webster, NA Affara… - Human …, 1996 - Wiley Online Library
Germline mutation analysis was performed in 469 VHL families from North America, Europe,
and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 …

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

…, F Latif, MI Lerman, B Zbar, NA Affara… - Human Molecular …, 1994 - europepmc.org
Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome
predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar …

Somatic mutations of the von Hippel—Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma

…, FM Richards, P Cairns, NA Affara… - Human molecular …, 1994 - academic.oup.com
Loss of heterozygosity (LOH) studies have suggested that somatic mutations of a tumour
suppressor gene or genes on chromosome 3p are a critical event In the pathogenesls of non-…

Inactivation of the von Hippel–Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: Evidence for a VHL …

SC Clifford, AH Prowse, NA Affara… - Genes …, 1998 - Wiley Online Library
Inactivation of tumour suppressor gene (s)(TSGs) on 3p appears to be a critical event in the
pathogenesis of clear cell renal cell carcinoma (CC-RCC). Analysis of loss of heterozygosity (…

Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review

…, RJ Daniels, M Mullarkey, NA Affara… - American journal of …, 1993 - Wiley Online Library
We describe 2 karyotypically male infants with terminal deletion of 10q and mental
retardation, multiple phenotypic anomalies and abnormal genitalia. One [karyotype 46,XY,del(10)(q26…

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

…, S Olschwang, F Resche, NA Affara… - American journal of …, 1997 - ncbi.nlm.nih.gov
Von Hippel-Lindau (VHL) disease is a dominantly inherited disorder predisposing to retinal
and CNS hemangioblastomas, renal cell carcinoma (RCC), pheochromocytoma, and …

Sperm-induced modification of the oviductal gene expression profile after natural insemination in mice

A Fazeli, NA Affara, M Hubank… - Biology of …, 2004 - academic.oup.com
In mammals, the physiological interaction between spermatozoa and oviductal epithelia
involves intimate and specific contact between the two cell types. Spermatozoa may undergo …

Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y …

…, TB Hargreave, HJ Cooke, NA Affara - Human Molecular …, 1998 - academic.oup.com
DFFRY (the Y-linked homologue of the DFFRX Drosophila fat-facets related X gene) maps
to proximal Yq11.2 within the interval defining the AZFa spermatogenic phenotype. The …

[HTML][HTML] A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse

J Cocquet, PJI Ellis, SK Mahadevaiah, NA Affara… - 2012 - journals.plos.org
Intragenomic conflicts arise when a genetic element favours its own transmission to the
detriment of others. Conflicts over sex chromosome transmission are expected to have …