Results 71 to 80 of about 58,220 (206)

Paternal obesity is associated with IGF2 hypomethylation in newborns: results from a Newborn Epigenetics Study (NEST) cohort [PDF]

open access: yes, 2013
Data from epidemiological and animal model studies suggest that nutrition during pregnancy may affect the health status of subsequent generations. These transgenerational effects are now being explained by disruptions at the level of the epigenetic ...
A Kerjean   +68 more
core   +3 more sources

Silver-Russell syndrome: genetic basis and molecular genetic testing

open access: yesOrphanet Journal of Rare Diseases, 2010
Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically ...
Binder Gerhard   +3 more
doaj   +1 more source

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

open access: yesJournal of Medical Genetics, 2015
Background Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype. Subjects and methods Sixty-nine
S. Azzi   +6 more
semanticscholar   +1 more source

The precautionary approach and the management of the European eel (Anguilla anguilla) – critical remarks [PDF]

open access: yes, 2007
Recruitment and commercial catches of European eel have been in decline since the late 1970s. So far, the reasons are not well understood. A range of potential natural and anthropogenic reasons have been discussed, but the relative importance of the ...
Wysujack, Klaus
core   +1 more source

Toward Harmonizing Quantification of Dopamine Neuron Imaging Biomarkers in Parkinson's Disease: The Centamine Scale

open access: yesAnnals of Neurology, EarlyView.
Objective Dopaminergic imaging is a key biomarker for both the investigation of the biology of Parkinson's disease and related synucleinopathies and the evaluation of potential therapies in clinical trials. This work presents a harmonized approach for quantifying dopaminergic molecular imaging tracers, such as [123I]ioflupane (dopamine transporter scan
Zhen Fan   +174 more
wiley   +1 more source

Pauci-immune glomerulonephritis in individuals with disease associated with levamisole-adulterated cocaine: a series of 4 cases. [PDF]

open access: yes, 2014
Exposure to levamisole-adulterated cocaine can induce a distinct clinical syndrome characterized by retiform purpura and/or agranulocytosis accompanied by an unusual constellation of serologic abnormalities including antiphospholipid antibodies, lupus ...
Butcher, Brad   +6 more
core   +2 more sources

Towards the Development of a Conceptual Framework of the Determinants of Pre‐eclampsia: A Hierarchical Systematic Review of Biomarkers

open access: yesBJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Pre‐eclampsia is a leading cause of maternal and perinatal morbidity and mortality. There are several determinants of individual pregnant women's risk of developing pre‐eclampsia, including biomarkers and ultrasound markers. Objective A conceptual framework to collate and summarise the extensive body of literature on biomarkers ...
Terteel Elawad   +89 more
wiley   +1 more source

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation [PDF]

open access: yes, 2017
Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother
Bernasconi, Fabiana   +12 more
core  

Androgenetic alopecia: a review [PDF]

open access: yes, 2017
Purpose Androgenetic alopecia, commonly known as male pattern baldness, is the most common type of progressive hair loss disorder in men. The aim of this paper is to review recent advances in understanding the pathophysiology and molecular mechanism
Caro, Gemma   +7 more
core   +1 more source

Severe Silver-Russell syndrome. [PDF]

open access: yesJournal of Medical Genetics, 1989
Three children are described with severe Silver-Russell syndrome. Major medical problems occurred in the first two years of life in all three. Silver-Russell syndrome should be considered in the differential diagnosis of children with severe pre- and postnatal growth deficiency.
D, Donnai   +3 more
openaire   +2 more sources

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