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 …
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…
and at least one of the following features: mental retardation, heart defects, deafness, obesity…
Germline copy number variations and cancer predisposition
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
risk profile accelerates menopause. Background : Women with an early menopause are at an …