Results 101 to 110 of about 18,861 (235)

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

O Fenótipo Ampliado do Autismo em genitores de crianças com Transtorno do Espectro Autista - TEA

Psicologia: Teoria e Pesquisa
RESUMOPesquisadores têm identificado expressões mais leves de traços do Transtorno do Espectro do Autismo - TEA em pais e irmãos destes indivíduos, que são definidas como Fenótipo Ampliado do Autismo (FAA).
Renata Giuliani Endres, Simone Steyer Lampert, Jaqueline Bohrer Schuch, Tatiana Roman, Cleonice Alves Bosa   +4 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Association of autistic personality traits with the EEG scores in non-clinical subjects during the facial video viewing

Вавиловский журнал генетики и селекции
A software information module of the experimental computer platform “EEG_Self-Construct” was developed and tested in the framework of this study. This module can be applied for identification of neurophysiological markers of self-referential processes ...
A. N. Savostyanov, D. A. Kuleshov, D. I. Klemeshova, M. S. Vlasov, A. E. Saprygin   +4 more
doaj   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Maternal Pragmatic Language Difficulties in the FMR1 Premutation and the Broad Autism Phenotype: Associations with Individual and Family Outcomes. [PDF]

J Autism Dev Disord, 2022
Klusek J, Thurman AJ, Abbeduto L.
europepmc   +1 more source

Developmental Regression in Autism Spectrum Disorders and the Broad Autism Phenotype

, 2017
This study examined the relationship between the Broad Autism Phenotype (BAP) and developmental regression in children with Autism Spectrum Disorders. A sample of 2757 children and adolescents with autism spectrum disorders was drawn from the Simons Simplex Collection, an archival database administered by the Simons Foundation Autism Research ...
openaire   +1 more source

The impact of early synchronized gestures by parents with more pronounced broader autism phenotype traits on language skills of children with autism spectrum disorder

Xin yixue
Objective To investigate the impact of broad autism phenotype (BAP) characteristics in early parent-child interactions on gesture use and the language abilities of children with Autism Spectrum Disorder (ASD) within families affected by ASD. Methods From
Shaoli LÜ, Yixiang XIE, Linru LIU, Qianying YE, Hongzhu DENG   +4 more
doaj   +1 more source

Cortical Network Overconnectivity Relates to Sensory, Cognitive, and Social Dimensions in Young Children With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT The heterogeneity in both the neurobiological mechanisms and the phenotypic presentations of autism spectrum disorder (ASD) poses a major challenge to clinical and translational research. Alterations in functional connectivity (FC) have been associated with ASD, yet it remains unclear whether and how divergent brain network properties may ...
Borja Rodríguez‐Herreros, Ahmad Mheich, Joana Maria Almeida Osório, Sonia Richetin, Vincent Junod, Lorène Arnold, Victoria Aeschbach, Lilia Nora Adamou, Katherina Gschwend, Laura Mendes, David Romascano, Paola Yu, Marine Jequier Gygax, Anne M. Maillard, Micah M. Murray, Mahmoud Hassan, Nadia Chabane   +16 more
wiley   +1 more source

Defining and Measuring Developmental Regression During Childhood: A Scoping Review

Autism Research, EarlyView.
ABSTRACT Developmental regression during childhood is inconsistently defined and measured, resulting in delayed diagnostic discovery and intervention. This study aimed to examine published definitions and measures for developmental regression. A comprehensive search strategy was applied to Medline, Embase, Cochrane, and PsycINFO databases.
Kirsten Furley, Jenny Fairthorne, Vishnu Priya Mohanakumar Sindhu, Katrina Williams, Amanda Brignell   +4 more
wiley   +1 more source