Results 11 to 20 of about 1,908,891 (267)
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor [PDF]
, 2007 More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed.
Stäubert, Claudia +17 more
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Colorectal cancer prognosis: is it all mutation, mutation, mutation? [PDF]
Gut, 2005 For the 500 000 new cases of colorectal cancer in the world each year, identification of patients with a worse prognosis and those who are more likely to respond to treatment is a challenge. There is an increasing body of evidence correlating genetic mutations with outcome in tumours derived from human colorectal cancer cohorts.
Hassan, AB, Paraskeva, C
openaire +2 more sources
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability [PDF]
, 2014 Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism1.
Baralle, Diana +48 more
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, 2020 . Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. The New England journal of medicine, 347(2), 95-102.
Mutations, Congenital
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Drug resistance-conferring mutations in Mycobacterium tuberculosis from Madang, Papua New Guinea [PDF]
, 2012 : BACKGROUND: Monitoring drug resistance in Mycobacterium tuberculosis is essential to curb the spread of tuberculosis (TB). Unfortunately, drug susceptibility testing is currently not available in Papua New Guinea (PNG) and that impairs TB control in ...
Gagneux, S. +35 more
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Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. [PDF]
, 1996 It has been suggested that not only the position but also the nature of the mutations of the ret protooncogene strongly correlate with the clinical manifestation of the multiple endocrine neoplasm type 2 (MEN 2) syndrome.
Rendl, J. +15 more
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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
, 2010 Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH +27 more
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