Results 241 to 250 of about 187,501 (315)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Automated Sleep Stages Classification Using Convolutional Neural Network From Raw and Time-Frequency Electroencephalogram Signals: Systematic Evaluation Study.

J Med Internet Res, 2023
Haghayegh S, Hu K, Stone K, Redline S, Schernhammer E.   +4 more
europepmc   +1 more source

Fluctuations between sleep and wakefulness: Wake-like features indicated by increased EEG alpha power during different sleep stages in nightmare disorder [PDF]

, 2013
Péter Simor, Klára Horváth, Péter P. Ujma, Ferenc Gombos, Róbert Bódizs   +4 more
openalex   +1 more source

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen, Roope A. Kallionpää   +6 more
wiley   +1 more source

Heart rate variability in low birth weight growth restricted children during sleep and wake stages [PDF]

, 2013
Wajid Aziz, Taher Biala, Nazneen Habib, Muhammad Saleem Abbasi, Michael Wailoo, Fernando S. Schlindwein   +5 more
openalex   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Nocturnal Continuous Glucose and Sleep Stage Data in Adults with Type 1 Diabetes in Real-World Conditions [PDF]

, 2013
Stephanie Feudjio Feupe, Patrick F. Frias, Sara C. Mednick, Elizabeth A. McDevitt, Nathaniel D. Heintzman   +4 more
openalex   +1 more source

Immediate Therapeutic Response to Vigabatrin in Lissencephaly‐Related Epileptic Spasms due to TUBA1A R402H Variant

American Journal of Medical Genetics Part A, EarlyView.
Toru Nagata, Takashi Shibata, Hiroki Tsuchiya, Mari Akiyama, Mitsuhiro Kato, Tomoyuki Akiyama, Toshiki Takenouchi   +6 more
wiley   +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

Effect of sleep stage on breathing in children with central hypoventilation

, 2008
Jingtao Huang, Ian M. Colrain, Howard B. Panitch, Ignacio E. Tapia, Michael S. Schwartz, John Samuel, Michelle Pepe, Preetam Bandla, Ruth Bradford, Yaël P. Mossé, John M. Maris, Carole L. Marcus   +11 more
openalex   +2 more sources