Results 101 to 110 of about 385,791 (336)

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2‐Associated Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita, Takuya Ogawa, Mamiko Yamada, Chisen Takeuchi, Kenjiro Kosaki, Keiji Moriyama   +5 more
wiley   +1 more source

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, Melissa A. Kelly, Adam P. Matson   +10 more
wiley   +1 more source

Perinatal factors associated with autistic spectrum disorder

Paediatrica Indonesiana, 2014
Background The prevalence of autistic spectrum disorder (ASD) has increased in recent decades. The definitive causes of ASD have yet to be recognized. Howevei; it is believed that both genetic and non-genetic, as well as perinatal and post natal factors ...
Asri Yuniastuti, Tunjung Wibowo, Djauhar Ismail   +2 more
doaj   +1 more source

Using Applied Behavior Analysis in Software to help Tutor Individuals with Autism Spectrum Disorder [PDF]

arXiv, 2018
There are currently many tutoring software systems which have been designed for neurotypical children. These systems cover academic topics such as reading and math, and are made available through various technological mediums. The majority of these systems were not designed for use by children with special needs, in particular those who are diagnosed ...
arxiv  

Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The NatA N‐terminal acetyltransferase complex is composed of the NAA10 catalytic subunit and the auxiliary subunits NAA15 and HYPK. While those with variants in the enzymatic subunit develop Ogden Syndrome, individuals with variants in the NAA15 coding region develop NAA15‐related neurodevelopmental syndrome, which presents with a wide array ...
Rikhil Makwana, Carolina Christ, Rahi Patel, Elaine Marchi, Randie Harpell, Gholson J. Lyon   +5 more
wiley   +1 more source

Presence and correlates of autistic traits among patients with social anxiety disorder

Frontiers in Psychiatry
IntroductionDue to their similar behavioral presentation, it can sometimes be challenging to distinguish between a social anxiety disorder (SAD) and the social avoidance that is frequently described in autism spectrum disorder (ASD).
Barbara Carpita, Benedetta Nardi, Chiara Bonelli, Enrico Massimetti, Giulia Amatori, Ivan Mirko Cremone, Stefano Pini, Liliana Dell’Osso   +7 more
doaj   +1 more source

Hard to “tune in”: neural mechanisms of live face-to-face interaction with high-functioning autistic spectrum disorder

Frontiers in Human Neuroscience, 2012
Persons with autism spectrum disorders (ASD) are known to have difficulty in eye contact (EC). This may make it difficult for their partners during face to face communication with them. To elucidate the neural substrates of live inter-subject interaction
H. Tanabe, H. Kosaka, D. Saito, T. Koike, Masamichi J. Hayashi, Keise Izuma, Hidetsugu Komeda, M. Ishitobi, M. Omori, T. Munesue, H. Okazawa, Y. Wada, N. Sadato   +12 more
semanticscholar   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Automatic Voice Classification Of Autistic Subjects [PDF]

Autism Spectrum Disorders (ASD) describe a heterogeneous set of conditions classified as neurodevelopmental disorders. Although the mechanisms underlying ASD are not yet fully understood, more recent literature focused on multiple genetics and/or environmental risk factors.
arxiv   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source