A review on the role of genetic mutations in the autism spectrum disorder
S Ghafouri-Fard, A Pourtavakoli, BM Hussen… - Molecular …, 2023 - Springer
Autism spectrum disorder (ASD) is among the most widespread neurodevelopmental
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …
diseases, with an approximate prevalence rate of 1 in 59. From a genetic point of view, this …
Analysis of Faecal Microbiota and Small ncRNAs in Autism: Detection of miRNAs and piRNAs with Possible Implications in Host–Gut Microbiota Cross-Talk
F Chiappori, FA Cupaioli, A Consiglio, N Di Nanni… - Nutrients, 2022 - mdpi.com
Intestinal microorganisms impact health by maintaining gut homeostasis and shaping the
host immunity, while gut dysbiosis associates with many conditions, including autism, a …
host immunity, while gut dysbiosis associates with many conditions, including autism, a …
Natural history of Myhre syndrome
DD Yang, M Rio, C Michot, N Boddaert… - Orphanet Journal of …, 2022 - Springer
Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal
disorders, facial features and joint limitation, caused by a gain of function mutation in …
disorders, facial features and joint limitation, caused by a gain of function mutation in …
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
E Vanbelleghem, T Van Damme, A Beyens… - European Journal of …, 2024 - nature.com
Abstract Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by
recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly …
recurrent pathogenic missense variants in SMAD4. The clinical features have been mainly …
Does the arc of science bend towards impact? Four decades of empirical research published in JADD since the DSM-III
P Doehring - Journal of Autism and Developmental Disorders, 2021 - Springer
The present study explored the shift from understanding to intervention to population impact
in the empirical research published in this journal at five points of time over 40 years since …
in the empirical research published in this journal at five points of time over 40 years since …
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
AE Lin, ER Scimone, RP Thom… - American Journal of …, 2024 - Wiley Online Library
Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent
germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty …
germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty …
Novel ocular and inner ear anomalies in a patient with Myhre syndrome
S Gürsoy, F Hazan, T Öztürk, H Ateş - Molecular Syndromology, 2020 - karger.com
Myhre syndrome is a rare autosomal dominant multisystemic disorder. Typical features of
this disorder include distinctive facial appearance, deafness, intellectual disability …
this disorder include distinctive facial appearance, deafness, intellectual disability …
Psychiatric manifestations of Myhre syndrome: A case report
V Bhushan, G Kumar, A Yadav… - Indian Journal of …, 2023 - journals.lww.com
Psychiatric manifestations of Myhre syndrome: A case report : Indian Journal of Psychiatry
Psychiatric manifestations of Myhre syndrome: A case report : Indian Journal of Psychiatry Log …
Psychiatric manifestations of Myhre syndrome: A case report : Indian Journal of Psychiatry Log …
Gene expression changes associated with trajectories of psychopathology in a longitudinal cohort of children and adolescents
We aimed to identify blood gene expression patterns associated to psychopathological
trajectories retrieved from a large community, focusing on the emergence and remission of …
trajectories retrieved from a large community, focusing on the emergence and remission of …
The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity
H Li, B Cheng, X Hu, C Li, J Su, S Zhang, L Li, M Li… - Clinica Chimica …, 2020 - Elsevier
Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth
retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism …
retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism …