Search Results - "Brady, Paul D."
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Pulmonary transcriptome analysis in the surgically induced rabbit model of diaphragmatic hernia treated with fetal tracheal occlusion
Published in Disease models & mechanisms (01-02-2016)“…Congenital diaphragmatic hernia (CDH) is a malformation leading to pulmonary hypoplasia, which can be treated in utero by fetal tracheal occlusion (TO)…”
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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Published in American journal of medical genetics. Part A (01-12-2012)“…Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We…”
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Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics
Published in Human mutation (01-06-2012)“…Whole‐genome analysis using genome‐wide arrays, also called “genomic arrays,” “microarrays,” or “arrays,” has become the first‐tier diagnostic test for…”
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Factors that affect consent rate for organ donation after brain death: A 12-year registry
Published in Journal of the neurological sciences (15-09-2020)“…To account for factors affecting family approach and consent for organ donation after brain death (BD). A prospective cohort study in a large, tertiary, urban…”
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Genomic microarrays: a technology overview
Published in Prenatal diagnosis (01-04-2012)“…ABSTRACT Genomic microarrays are now widely used diagnostically for the molecular karyotyping of patients with intellectual disability, congenital anomalies…”
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Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
Published in European journal of human genetics : EJHG (01-04-2015)“…Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now…”
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Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)
Published in Prenatal diagnosis (01-12-2010)“…Objective Congenital diaphragmatic hernia (CDH) is a congenital birth defect affecting around 1/3000 births. We propose that a significant number of isolated…”
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Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
Published in European journal of medical genetics (01-05-2014)“…Abstract Using exome sequencing we identify a heterozygous nonsense mutation in ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia in 2…”
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Recent developments in the genetic factors underlying congenital diaphragmatic hernia
Published in Fetal diagnosis and therapy (01-02-2011)“…Congenital diaphragmatic hernia (CDH) is a birth defect affecting around 1 in 3,000 births and is associated with high mortality and morbidity. It has become…”
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Array-based approaches in prenatal diagnosis
Published in Methods in molecular biology (Clifton, N.J.) (01-01-2012)“…The diagnostic benefits of array comparative genomic hybridisation (CGH) have been demonstrated, with this technique now being applied as the first-line test…”
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Pulmonary transcriptome analysis in the rabbit model of surgically-induced diaphragmatic hernia treated with fetal tracheal occlusion
Published in Disease models & mechanisms (01-01-2016)“…Congenital diaphragmatic hernia (CDH) is a malformation leading to pulmonary hypoplasia which can be treated in utero by fetal tracheal occlusion (TO). However…”
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Comments on: Inferior Vena Cava Filters in Pregnancy: A Systematic Review
Published in Journal of vascular and interventional radiology (01-11-2016)Get full text
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Endovascular treatment of cervical myelopathy from brachiocephalic venous stenosis
Published in Radiology case reports (01-07-2020)“…Central venous stenosis is a rare cause of neurologic pathology. Here we present a case of brachiocephalic vein stenosis causing cervical myelopathy through…”
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Endovascular Stenting of Portal Vein for Graft Rescue after a Pancreas Transplant Venous Graft Thrombosis: A Case Report
Published in Annals of vascular surgery (01-07-2017)“…Abstract Venous thrombosis of pancreas transplant allografts often leads to graft loss. Its worrisome complication and difficult to treat, forming the most…”
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