Results 161 to 170 of about 579,778 (352)
Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai +4 more
wiley +1 more source
Alteration of esophageal pressure in sleep‐disordered breathing [PDF]
, 1998 Akira Mikami +8 more
openalex +1 more source
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 +13 more
wiley +1 more source
Evaluation of activity‐based techniques to identify transient arousal in respiratory sleep disorders [PDF]
, 1996 Michael Drinnan +5 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 +6 more
wiley +1 more source
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 +8 more
wiley +1 more source
Sleep-disordered breathing in children [PDF]
, 1998 Christian Guilleminault, Rafael Pelayo
openalex +1 more source
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 +6 more
wiley +1 more source