Search Results - "Rand, Casey M"

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    ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison by Barclay, Sarah F, Rand, Casey M, Nguyen, Lisa, Wilson, Richard J A, Wevrick, Rachel, Gibson, William T, Bech-Hansen, N Torben, Weese-Mayer, Debra E

    Published in Orphanet journal of rare diseases (20-07-2018)
    “…Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric…”
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    Analysis and comparisons of gene expression changes in patient- derived neurons from ROHHAD, CCHS, and PWS by Victor, A Kaitlyn, Hedgecock, Tayler, Donaldson, Martin, Johnson, Daniel, Rand, Casey M, Weese-Mayer, Debra E, Reiter, Lawrence T

    Published in Frontiers in pediatrics (10-05-2023)
    “…Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an ultra-rare neurocristopathy with no…”
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    Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine by Weese-Mayer, Debra E., Rand, Casey M., Berry-Kravis, Elizabeth M., Jennings, Larry J., Loghmanee, Darius A., Patwari, Pallavi P., Ceccherini, Isabella

    Published in Pediatric pulmonology (01-06-2009)
    “…The modern story of CCHS began in 1970 with the first description by Mellins et al., came most visibly to the public eye with the ATS Statement in 1999, and…”
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    Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): Kindred disorders of autonomic regulation by Weese-Mayer, Debra E, Berry-Kravis, Elizabeth M, Ceccherini, Isabella, Rand, Casey M

    Published in Respiratory physiology & neurobiology (10-12-2008)
    “…Abstract Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS) were long considered rare disorders of respiratory control…”
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    Congenital Central Hypoventilation Syndrome and Sudden Infant Death Syndrome: Disorders of Autonomic Regulation by Rand, Casey M., BS, Patwari, Pallavi P., MD, Carroll, Michael S., PhD, Weese-Mayer, Debra E., MD

    Published in Seminars in pediatric neurology (01-03-2013)
    “…Long considered a rare and unique disorder of respiratory control, congenital central hypoventilation syndrome has recently been further distinguished as a…”
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    Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life by Weese-Mayer, Debra E., Rand, Casey M., Zhou, Amy, Carroll, Michael S., Hunt, Carl E.

    Published in Pediatric research (2017)
    “…The “bedside-to-bench” Congenital Central Hypoventilation Syndrome (CCHS) research journey has led to increased phenotypic-genotypic knowledge regarding…”
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    Computer-aided diagnostic screen for Congenital Central Hypoventilation Syndrome with facial phenotype by Slattery, Susan M., Wilkinson, James, Mittal, Angeli, Zheng, Charlie, Easton, Nicholas, Singh, Saumya, Baker, Joshua J., Rand, Casey M., Khaytin, Ilya, Stewart, Tracey M., Demeter, David, Weese-Mayer, Debra E.

    Published in Pediatric research (01-06-2024)
    “…Background Congenital Central Hypoventilation Syndrome (CCHS) has devastating consequences if not diagnosed promptly. Despite identification of the…”
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    Cerebral Autoregulation during Orthostatic Challenge in Congenital Central Hypoventilation Syndrome by Vu, Eric L, Dunne, Emma C, Bradley, Allison, Zhou, Amy, Carroll, Michael S, Rand, Casey M, Brady, Kenneth M, Stewart, Tracey M, Weese-Mayer, Debra E

    “…Congenital central hypoventilation syndrome (CCHS) is a rare autonomic disorder with altered regulation of breathing, heart rate (HR), and blood pressure (BP)…”
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    A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders by Ramirez, Jan-Marino, Carroll, Michael S., Burgraff, Nicholas, Rand, Casey M., Weese-Mayer, Debra E.

    Published in Clinical autonomic research (01-06-2023)
    “…Disorders of autonomic functions are typically characterized by disturbances in multiple organ systems. These disturbances are often comorbidities of common…”
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    Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers by Jennings, Lawrence J, Yu, Min, Zhou, Lili, Rand, Casey M, Berry-Kravis, Elizabeth M, Weese-Mayer, Debra E

    Published in Diagnostic molecular pathology (01-12-2010)
    “…Clinical diagnostic testing for congenital central hypoventilation syndrome (CCHS) usually involves amplification and detection by (1) targeted mutation…”
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    Congenital Central Hypoventilation Syndrome: PHOX2B Mutations and Phenotype by Berry-Kravis, Elizabeth M, Zhou, Lili, Rand, Casey M, Weese-Mayer, Debra E

    “…Congenital central hypoventilation syndrome (CCHS), a unique disorder of respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural…”
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    Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox by Welbel, Remi Z., Rand, Casey M., Zhou, Amy, Fadl‐Alla, Allaa, Chen, Maida Lynn, Weese‐Mayer, Debra E., Zelko, Frank A.

    Published in Pediatric pulmonology (01-09-2022)
    “…Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, caused by mutations in the paired‐like homeobox gene PHOX2B, which alters…”
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