Search

Publication

Determining peripheral skin temperature: subjective versus objective measurements.

Jennifer Tse, Casey Rand, Michael Carroll, Aaron Charnay, Samantha Gordon, Briseyda Morales, Sally Vitez, Michele Le, Debra Weese-Mayer

Publication

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Sarah F Barclay, Casey M Rand, Paul A Gray, William T Gibson, Richard J A Wilson, Elizabeth M Berry-Kravis, Diego Ize-Ludlow, N Torben Bech-Hansen, Debra E Weese-Mayer

Publication

Stillbirth evaluation: a stepwise assessment of placental pathology and autopsy

Emily S Miller, Lucy Minturn, Rebecca Linn, Debra E Weese-Mayer, Linda M Ernst

Publication

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): Response to ventilatory challenges.

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

Publication

Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome.

Amy E Armstrong, Debra E Weese-Mayer, Amir Mian, John M Maris, Vandana Batra, Yasmin Gosiengfiao, Jennifer Reichek, Mary Beth Madonna, Jonathan W Bush, Richard M Shore, David O Walterhouse

Publication

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Exome sequencing of trios, monozygotic twins and tumours

Sarah F Barclay, Casey M Rand, Lauren A Borch, Lisa Nguyen, Paul A Gray, William T Gibson, Richard J A Wilson, Paul M K Gordon, Zaw Aung, Elizabeth M Berry-Kravis, Diego Ize-Ludlow, Debra E Weese-Mayer, N Torben Bech-Hansen

Publication

Stillbirth: Genome-wide copy number variation profiling in archived placental umbilical cord samples with pathologic and clinical correlation.

L M Ernst, C M Rand, R Bao, J Andrade, R L Linn, L Minturn, C Zhang, W Kang, D E Weese-Mayer

Publication

Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.

Hiroko Nobuta, Maria Roberta Cilio, Olivier Danhaive, Hui-Hsin Tsai, Srinivasan Tupal, Sandra M Chang, Alice Murnen, Faith Kreitzer, Verenice Bravo, Catherine Czeisler, Hamza Numan Gokozan, Patrick Gygli, Sean Bush, Debra E Weese-Mayer, Bruce Conklin, Siu-Pok Yee, Eric J Huang, Paul A Gray, David Rowitch, José Javier Otero

Publication

Hyperthyroidism hidden by congenital central hypoventilation syndrome.

Danya A Fox, Debra E Weese-Mayer, David F Wensley, Laura L Stewart

Publication

Proceedings of the fourth international conference on central hypoventilation

Ha Trang, Jean-François Brunet, Hermann Rohrer, Jorge Gallego, Jeanne Amiel, Tiziana Bachetti, Kenneth H Fischbeck, Thomas Similowski, Christian Straus, Isabella Ceccherini, Debra E Weese-Mayer, Matthias Frerick, Katarzyna Bieganowska, Linda Middleton, Francesco Morandi, Giancarlo Ottonello

Publication

Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.

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

Publication

Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome

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

Search

Filters

Search Results List