Results 161 to 170 of about 713,881 (334)

Evaluation of activity‐based techniques to identify transient arousal in respiratory sleep disorders [PDF]

, 1996
Michael Drinnan, Alan Murray, John White, A. J. SMITHSON, Gretchen Gibson, Clive Griffiths   +5 more
openalex   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Snooze alarm use in a global population of smartphone users

Scientific Reports
Snooze alarm use is a common, but poorly understood human behavior. We explore the prevalence and characteristics of snooze alarm use in more than 3 million nights collected in a global sample of users of a sleep monitoring smartphone application. On the
Rebecca Robbins, Daniel Sääf, Matthew D. Weaver, Michael Gradisar, Stuart F. Quan, Charles A. Czeisler   +5 more
doaj   +1 more source

Alteration of esophageal pressure in sleep‐disordered breathing [PDF]

, 1998
Akira Mikami, Takuya Watanabe, Masamichi Motonishi, Hideharu Honda, Kyoko Kyotani, S. Uruha, Kiyoji Terashima, Yoshio Teshima, Yoshiro Sugita   +8 more
openalex   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source

Genetic Studies in the Sleep Disorder Narcolepsy [PDF]

, 1998
Hiroshi Kadotani, Juliette Faraco, Emmanuel Mignot   +2 more
openalex   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

Temperature Circadian Rhythms during the Menstrual Cycle and Sleep Deprivation in Premenstrual Dysphoric Disorder and Normal Comparison Subjects [PDF]

, 1997
Barbara L. Parry, Betina LeVeau, Nasim Mostofi, Heidi Cover Naham, Richard T. Loving, Paul Clopton, J. Christian Gillin   +6 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Effects of transient and persistent cerebrospinal fluid drainage on sleep disordered breathing in patients with idiopathic adult hydrocephalus syndrome [PDF]

, 1998
Bjarne Winther Kristensen, Jan Malm, Toril Rabben   +2 more
openalex   +1 more source