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Showing 61 - 72 of 138 results
Publication

Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.

Karlene T Barrett, Ekaterina Rodikova, Debra E Weese-Mayer, Casey M Rand, Mary L Marazita, Margaret E Cooper, Elizabeth M Berry-Kravis, N Torben Bech-Hansen, Richard J A Wilson

Publication

Congenital Central Hypoventilation Syndrome and Sudden Infant Death Syndrome: Disorders of Autonomic Regulation

Casey M Rand, Pallavi P Patwari, Michael S Carroll, Debra E Weese-Mayer

Publication

A Triple Threat: Down Syndrome, Congenital Central Hypoventilation Syndrome, and Hirschsprung Disease

Kelly L Jones, Enikö K Pivnick, Stacy Hines-Dowell, Debra E Weese-Mayer, Elizabeth M Berry-Kravis, Teresa Santiago, Chukwuma Nnorom, Massroor Pourcyrous

Publication

Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death

Anna M Lavezzi, Debra E Weese-Mayer, Margaret Y Yu, Lawrence J Jennings, Melissa F Corna, Valentina Casale, Roberta Oneda, Luigi Matturri

Publication

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).

Casey M Rand, Min Yu, Lawrence J Jennings, Kelvin Panesar, Elizabeth M Berry-Kravis, Lili Zhou, Debra E Weese-Mayer

Publication

Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia

Michael S Carroll, Anna S Kenny, Pallavi P Patwari, Jan-Marino Ramirez, Debra E Weese-Mayer

Publication

Variable human phenotype associated with novel deletions of the PHOX2B gene

Lawrence J Jennings, Min Yu, Casey M Rand, Nicole Kravis, Elizabeth M Berry-Kravis, Pallavi P Patwari, Debra E Weese-Mayer

Publication

Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation

Pallavi P Patwari, Tracey M Stewart, Casey M Rand, Michael S Carroll, Nancy L Kuntz, Anna S Kenny, Cindy D Brogadir, Debra E Weese-Mayer

Publication

Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation: Analysis of Hypothalamic and Autonomic Candidate Genes

Casey M Rand, Pallavi P Patwari, Ekaterina A Rodikova, Lili Zhou, Elizabeth M Berry-Kravis, Richard J A Wilson, Torben Bech-Hansen, Debra E Weese-Mayer

Publication

Longitudinal Assessment of Hemoglobin Oxygen Saturation in Preterm and Term Infants in the First Six Months of Life

Carl E Hunt, Michael J Corwin, Debra E Weese-Mayer, Sally L Davidson Ward, Rangasamy Ramanathan, George Lister, Larry R Tinsley, Tim Heeren, Denis Rybin

Publication

Monozygotic Twins Discordant for ROHHAD Phenotype

Pallavi P Patwari, Casey M Rand, Elizabeth M Berry-Kravis, Diego Ize-Ludlow, Debra E Weese-Mayer

Publication

Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.

Lawrence J Jennings, Min Yu, Lili Zhou, Casey M Rand, Elizabeth M Berry-Kravis, Debra E Weese-Mayer