Now showing items 1-10 of 17
Effects of Sex Steroid Receptor Specificity in the Regulation of Skeletal Metabolism
(Springer-Verlag, 2004-07)
The interaction between estrogens and androgens, with their protective effects in bone, and parathyroid hormone (PTH), a calcitropic peptide hormone, is complex but may be better understood with murine models. The purpose ...
Risk perception and concern among brothers of men with prostate carcinoma
(Wiley Subscription Services, Inc., A Wiley Company, 2004-04-01)
BACKGROUND It is important for clinicians, researchers, and others who shape public health policy to understand the demographic correlates and psychologic factors that drive health behaviors, such as screening for early ...
Meta-analysis of the association between a serotonin transporter promoter polymorphism (5-HTTLPR) and anxiety-related personality traits
(Wiley Subscription Services, Inc., A Wiley Company, 2004-05-15)
Anxiety-related personality traits, such as NEO neuroticism and TCI/TPQ harm avoidance, have been shown to have significant genetic components. To date, however, no specific genetic variants that contribute to these traits ...
Advances in on-chip photodetection for applications in miniaturized genetic analysis systems
(IOP Publishing Ltd, 2004-01-01)
Microfabrication techniques have become increasingly popular in the development of next generation DNA analysis devices. Improved on-chip fluorescence detection systems may have applications in developing portable hand-held ...
Three ENU-induced neurological mutations in the pore loopof sodium channel Scn8a (Na v 1.6) and a genetically linkedretinal mutation, rd13
(Springer-Verlag, 2004-05)
The goal of The Jackson Laboratory Neuroscience Mutagenesis Facility is to generate mouse models of human neurological disease. We describe three new models obtained from a three-generation screen for recessive mutations. ...
Two patients with monomelic ulnar duplication with mirror hand polydactyly: Segmental Laurin–Sandrow syndrome
(Wiley Subscription Services, Inc., A Wiley Company, 2004-11-15)
We have studied two unrelated boys with isolated left mirror hand and ulnar duplication. Neither had facial anomalies and family histories were unremarkable. We suggest that these boys have segmental Laurin–Sandrow syndrome, ...
NPHS2 mutation associated with recurrence of proteinuria after transplantation
(Springer-Verlag; IPNA, 2004-05)
Mutations in the NPHS2 gene encoding podocin are associated with steroid-resistant nephrotic syndrome (SRNS) in childhood. Patients usually present with focal segmental glomerulosclerosis (FSGS). It is unclear to what ...
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal
(Wiley Subscription Services, Inc., A Wiley Company, 2004-03-15)
We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior ...
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations
(Springer-Verlag; IPNA, 2004-12)
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. In 26% of cases it is caused by recessive mutations in NPHS2 (podocin). ...