Search Results - "Brasington, Campbell K."
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Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors
Published in Journal of genetic counseling (01-06-2013)“…The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing…”
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Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors
Published in Journal of genetic counseling (01-10-2011)“…Down syndrome is one of the most common conditions encountered in the genetics clinic. Due to improvements in healthcare, educational opportunities, and…”
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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
Published in The New England journal of medicine (04-10-2012)“…Most chromosomal deletions and duplications (copy-number variants) that are associated with neurodevelopmental disorders are known to result in a wide…”
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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
Published in American journal of human genetics (03-08-2017)“…Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the…”
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Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS
Published in American journal of human genetics (12-03-2010)“…Nonallelic homologous recombination (NAHR) can mediate recurrent rearrangements in the human genome and cause genomic disorders. Smith-Magenis syndrome (SMS)…”
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Balanced information about Down syndrome: What is essential?
Published in American journal of medical genetics. Part A (01-06-2011)“…The purpose of this study was to explore the perspectives of genetic counselors and parents of children with Down syndrome to define essential information for…”
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What I wish I knew then...reflections from personal experiences in counseling about Down syndrome
Published in Journal of genetic counseling (01-12-2007)“…Sharing the news about a newborn baby's diagnosis of Down syndrome with families is a scenario genetic counselors frequently face. Yet often we may feel…”
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Balanced Information About Down Syndrome: What Is Essential?
Published in Obstetrical & gynecological survey (01-09-2011)“…The first information given to parents of children with newly diagnosed Down syndrome has a major impact on adaptation to the diagnosis and subsequent decision…”
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What I Wish I Knew Then…Reflections from Personal Experiences in Counseling about Down Syndrome
Published in Journal of genetic counseling (01-12-2007)“…Sharing the news about a newborn baby's diagnosis of Down syndrome with families is a scenario genetic counselors frequently face. Yet often we may feel…”
Get full text
Journal Article