Search

PHOX2B Mutation–confirmed Congenital Central Hypoventilation Syndrome

Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome.

Debra E Weese-Mayer, Anna S Kenny, Christina M Boothby, Heather L Bennett, Jan-Marino Ramirez, Jean M Silvestri, Steven P Lieske

Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

Emily S. Todd, Anna S. Kenny, Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Jean M. Silvestri, Lili Zhou, Mary L. Marazita, Nicole M. Scott, Seth M. Weinberg, Susan A. Hauptman

Sudden infant death syndrome: Case‐control frequency differences in paired like homeobox (PHOX) 2B gene

Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome

Casey M. Rand, Brion S. Maher, Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Lili Zhou, Mary L. Marazita

Pediatric Autonomic Disorders

Felicia B. Axelrod, Debra E. Weese-Mayer, Gisela G. Chelimsky

3′ UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: Haplotype analysis

Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.

Emily S Todd, Anna S Kenny, Brion S Maher, Casey M Rand, Debra E Weese-Mayer, Elizabeth M Berry-Kravis, Jean M Silvestri, Lili Zhou, Mary L Marazita, Seth M Weinberg

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome

Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Mary L. Marazita

Sleep architecture in term and preterm infants beyond the neonatal period: the influence of gestational age, steroids, and ventilatory support.

Toke Hoppenbrouwers, David Crowell, Debra E. Weese-Mayer, Denis Rybine, Galina Fabrikant, Joan E. Hodgman, Michael Corwin

Factors that influence use of a home cardiorespiratory monitor for infants: the collaborative home infant monitoring evaluation.

Jean M. Silvestri, Carl E. Hunt, David H. Crowell, Debra E. Weese-Mayer, George Lister, Jean Cantey-Kiser, Larry Tinsley, Marian Willinger, Michael J. Corwin, Michael R. Neuman, Paula H. Palmer, Rebecca S. Mendenhall, Sheilah M. Smok-Pearsall, Terry M. Baird, Toke T. Hoppenbrouwers

Adult Identified with Congenital Central Hypoventilation Syndrome–Mutation in PHOX2b Gene and Late-Onset CHS