Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis [PDF]
, 2012 BackgroundAnalysis of cell free fetal (cff) DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD) of fetal sex determination, fetal rhesus D status and some single gene disorders.
Chitty, Lyn S. +5 more
core +7 more sources
, 2020 If we were to write down all those things that we ordinarily categorise as disabilities, the resulting list might appear to be extremely heterogeneous. What do disabilities have in common?
Gregory, Alex
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FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. [PDF]
, 2017 Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed ...
Aguilar, Miriam +13 more
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Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]
, 2015 Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa +2 more
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Achondroplasia and Down’s Syndrome – Case Report of a Rare Association [PDF]
, 2011 The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that ...
Pinto, M, Santos, S, Silva, T
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Fibroblast growth factor receptor 3 activation plays a causative role in urothelial cancer pathogenesis in cooperation with Pten loss in mice [PDF]
, 2014 Although somatic mutations and overexpression of the tyrosine kinase fibroblast growth factor receptor 3 (FGFR3) are strongly associated with bladder cancer, evidence for their functional involvement in the pathogenesis remains elusive.
Ahmad +48 more
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Cardiac interventions in patients with achondroplasia: a systematic review. [PDF]
, 2020 Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population.
Choi, Jae Hwan +6 more
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Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association [PDF]
, 2012 Background: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized.
Barroso, Eva +5 more
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Current Care and Investigational Therapies in Achondroplasia. [PDF]
, 2017 The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.
Bonafé, L., Gouze, E., Unger, S.
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The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]
, 2020 Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J +3 more
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