The variability of female reproductive ageing

ER Te Velde, PL Pearson - Human reproduction update, 2002 - academic.oup.com
The delay in childbearing is an important societal change contributing to an increasing
incidence of subfertility. The prevailing concept of female reproductive ageing assumes that the …

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

ACV Krepischi-Santos, AM Vianna-Morgante… - … and genome research, 2006 - karger.com
We report array-CGH screening of 95 syndromic patients with normal G-banded karyotypes
and at least one of the following features: mental retardation, heart defects, deafness, obesity…

Germline copy number variations and cancer predisposition

ACV Krepischi, PL Pearson, C Rosenberg - Future oncology, 2012 - Taylor & Francis
We present an overview of the role of germline copy number variations (CNVs) in cancer
predisposition. CNVs represent a significant source of genetic diversity, although the …

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

ST Reeders, MH Breuning, KE Davies, RD Nicholls… - Nature, 1985 - nature.com
Adult polycystic kidney disease (APCKD) is a common and often lethal multi-organ disease
with an autosomal dominant pattern of inheritance; approximately 1 in 1,000 people carry the …

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

JT Den Dunnen, PM Grootscholten… - American journal of …, 1989 - ncbi.nlm.nih.gov
We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the
dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight …

Identification of a new copper metabolism gene by positional cloning in a purebred dog population

B van De Sluis, J Rothuizen, PL Pearson… - Human molecular …, 2002 - academic.oup.com
Domesticated animal species such as dogs and cats, with their many different characteristics
and breed-specific diseases, and their close relationship and shared environment with …

The role of genetic factors in age at natural menopause

JP De Bruin, H Bovenhuis, PAH Van Noord… - Human …, 2001 - academic.oup.com
BACKGROUND: Environmental factors explain only a small part of the age variance at
which menopause commences. The variation in natural menopause is a trait predominantly …

Introduction and expression of the 400 kilobase precursor amyloid protein gene in transgenic mice

BT Lamb, SS Sisodia, AM Lawler, HH Slunt, CA Kitt… - Nature …, 1993 - nature.com
Overexpression of the gene encoding the β–amyloid precursor protein (APP) may have a key
role in the pathogenesis of both Alzheimer's disease (AD) and Down Syndrome (DS). We …

A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q

SC Bakker, EM Van der Meulen, JK Buitelaar… - The American Journal of …, 2003 - cell.com
A genome scan was performed on 164 Dutch affected sib pairs (ASPs) with attention-deficit/hyperactivity
disorder (ADHD). All subjects were white and of Dutch descent and were …

Heart disease risk determines menopausal age rather than the reverse

HS Kok, KM van Asselt, YT van der Schouw… - Journal of the American …, 2006 - jacc.org
Objectives : The purpose of this study was to investigate whether a harmful cardiovascular
risk profile accelerates menopause. Background : Women with an early menopause are at an …