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Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.

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

Hyperthyroidism hidden by congenital central hypoventilation syndrome.

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

Proceedings of the fourth international conference on central hypoventilation

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

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

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

Hypoventilation Syndromes of Infancy, Childhood, and Adulthood

Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome

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

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

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

Édition française de la Déclaration officielle de politique clinique de l’American Thoracic Society (ATS) sur le syndrome d’hypoventilation alvéolaire centrale congénitale. Bases génétiques, diagnostic et prise en charge

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

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

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD)

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

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

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

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