Results 41 to 50 of about 2,580 (168)
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders associated with intellectual disabilities can be complex and value‐laden, in which parents often play a central role. To ensure that clinical practice guideline recommendations align with the perspectives of parents, it is essential to ...
Mirthe J. Klein Haneveld +6 more
wiley +1 more source
The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source
Kabuki and CHARGE syndromes: overlapping symptoms and diagnostic challenges [PDF]
Einstein (São Paulo)Kabuki syndrome is a rare congenital malformation with typical facial features, skeletal anomalies, delayed neuropsychomotor development and growth, and cardiac, genitourinary, gastrointestinal, endocrine, and dental anomalies.
Bruno Pellozo Cerqueira +5 more
doaj +1 more source
Nonlinearities and Switch‐Like Behavior in Gene Expression: From Genetics to Biochemistry and Back
The FASEB Journal, Volume 40, Issue 16, 31 August 2026.Modest changes in transcription‐factor or chromatin‐regulator dosage can have disproportionate effects when gene‐regulatory systems operate near nonlinear thresholds. Sigmoidal input–output relationships, chromatin and cofactor recruitment, and changes in threshold position or response steepness provide molecular routes by which quantitative dosage ...
Reiner A. Veitia, James A. Birchler
wiley +1 more source
KABUKI SYNDROME WITH EPILEPSY: CLINICAL CASE
Эпилепсия и пароксизмальные состояния, 2016 Kabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar to Kabuki actors. The authors present a review article which describes the history, etiology, clinical features, diagnosis, and approaches to therapy of this
N. Yu. Borovikova +3 more
doaj
Clinical Case Reports, 2021 Although available evidence for psychosocial treatment for patients with Kabuki syndrome is limited, Dohsa‐hou, a psychomotor therapy, could be a treatment option for autism spectrum disorder associated with the disorder.
Juri Kawano, Haruo Fujino
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr +4 more
wiley +1 more source
Health Science Reports, Volume 9, Issue 7, July 2026.ABSTRACT Background Congenital heart disease is a structural or functional abnormality of the heart. The prevalence of congenital heart disease varies between countries, and mortality and morbidities are high in children with congenital heart diseases.
Nima Phuntsho +2 more
wiley +1 more source
Nature Communications, 2021 Mutations in the MLL4 gene can cause Kabuki syndrome, whose underlying molecular mechanisms are unclear. Here, the authors show that Mll4 epigenetically regulates the transcriptional program leading to the formation of GHRH-neurons in the developing ...
Christian Huisman +12 more
doaj +1 more source
Dry Cleaning and Post‐Cleaning Strategies in Food Processing Facilities: A Scoping Review
Comprehensive Reviews in Food Science and Food Safety, Volume 25, Issue 4, July 2026.ABSTRACT Effective dry cleaning and post‐cleaning treatments are essential for maintaining food safety in dry‐food processing environments where water use must be minimized. This scoping review mapped and synthesized empirical research on minimal‐water cleaning methods applied to industrial surfaces, focusing on their efficacy against microbial and ...
Zahra Shahbazi +3 more
wiley +1 more source