American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Assessing impact of chamber restricted environmental stimulation therapy on stress and sleep quality among university students: an intervention study. [PDF]
BMC PsycholBartolen I, Soláriková P.
europepmc +1 more source
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
The links between sleep health domains and male/female obesity: a nationwide survey on the Iranian general population. [PDF]
Sci RepAkbarpour S +7 more
europepmc +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
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
A deep learning software tool for automated sleep staging in rats via single channel EEG. [PDF]
NPP Digit Psychiatry NeurosciSmith A +5 more
europepmc +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
A population-based observational study using statistical modeling to assess the association between depressive symptom severity and sleep disorders in postmenopausal women. [PDF]
BMC MedCui Y, Du H.
europepmc +1 more source