Guidelines recommend that patients with gastro-oesophageal reflux disease are adequately treated with acid-suppressive therapy before undergoing anti-reflux surgery. Little is known of the use of acid-suppressive drugs before anti-reflux surgery. To determine the use of proton pump inhibitors and H2
Human molecular genetics, 24(10), 2733-2745 (2015-01-31)
Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present in only a subset of cells, have been detected in
European journal of cancer (Oxford, England : 1990), 51(6), 751-757 (2015-03-03)
A previous study showed that regular use of low-dose aspirin was associated with smaller tumour size and fewer metastases for colorectal and lung cancer. We aim to explain these distinct effects in terms of the anti-inflammatory and anti-thrombotic properties of
European journal of human genetics : EJHG, 23(5), 610-615 (2014-08-15)
De novo monoallelic variants in NFIX cause two distinct syndromes. Whole gene deletions, nonsense variants and missense variants affecting the DNA-binding domain have been seen in association with a Sotos-like phenotype that we propose is referred to as Malan syndrome.
The NONO protein has been characterized as an important transcriptional regulator in diverse cellular contexts. Here we show that loss of NONO function is a likely cause of human intellectual disability and that NONO-deficient mice have cognitive and affective deficits.
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