Results 281 to 290 of about 1,022,066 (394)

Autistic traits in synaesthesia: atypical sensory sensitivity and enhanced perception of details [PDF]

, 2019
Tessa M. van Leeuwen, Eline van Petersen, Floor Burghoorn, Mark Dingemanse, Rob van Lier   +4 more
openalex   +1 more source

A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au‐Kline Syndrome

Clinical Genetics, EarlyView.
Integrated genomic and epigenomic analyses, associated with functional studies, confirm the pathogenicity of a novel HNRNPK variant in Au‐Kline syndrome (AKS). Our study underscores the value of DNA methylation signatures in variant interpretation, enhancing accurate diagnosis and clinical management of rare neurodevelopmental disorders.
Maura Mingoia, Alessandra Meloni, Silvia Sedda, Sanaa Choufani, Isadora Asunis, Giorgia Gemma, Antonio Ammendola, Arteen Torabi‐Marashi, Eleonora di Venere, Gabriella Maria Squeo, Vincenzo Rallo, Maria Giuseppina Marini, Paolo Moi, Salvatore Savasta, Rosanna Weksberg, Giuseppe Merla, Andrea Angius   +16 more
wiley   +1 more source

Exploring the Associations Between Autistic Traits, Sleep Quality, and Well-Being in University Students: A Cross-Sectional Study. [PDF]

Brain Sci
Lunia D, Smith AP.
europepmc   +1 more source

Autistic traits and internet gaming addiction in Chinese children: The mediating effect of emotion regulation and school connectedness

, 2017
Sha Liu, Chengfu Yu, Bradley T. Conner, Suiping Wang, Weiping Lai, Wei Zhang   +5 more
openalex   +2 more sources

A cross-sectional examination of the clinical significance of autistic traits in individuals experiencing a first episode of psychosis [PDF]

, 2019
Katharine Chisholm, Mirabel Pelton, Nikita Duncan, Katherine Kidd, Klaas J. Wardenaar, Rachel Upthegrove, Matthew R. Broome, Ashleigh Lin, Stephen J. Wood   +8 more
openalex   +1 more source

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

Clinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat   +24 more
wiley   +1 more source

Exploring autistic traits in parents of autistic children: a pilot study on the broader autism phenotype. [PDF]

Front Psychiatry
Narzisi A, Busuoli EM, Fabbri-Destro M, Pinzino M, Calderoni S, Tancredi R, Lombardo MV, Masi G.   +7 more
europepmc   +1 more source

Theory of mind performance in younger and older adults with elevated autistic traits [PDF]

, 2019
Gavin R. Stewart, Gregory L. Wallace, Martha L. Cottam, Rebecca A. Charlton   +3 more
openalex   +1 more source

Clinical and Molecular Characterization of Xia–Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort

Clinical Genetics, EarlyView.
We present a clinical and molecular characterization of 16 Brazilian individuals with Xia–Gibbs syndrome, identifying 12 novel AHDC1 variants and four phenotypes not previously associated. Our findings support existing genotype–phenotype associations and suggest a new relation, expanding the known phenotypic and genetic spectrum of the syndrome ...
Maísa Ganz Sanchez Sennes, Laura Machado Lara Carvalho, Matheus Augusto Araújo Castro, Giovana Manilli Toccoli, Sofia de Oliveira Farias, Davi Mendes Campo Fialho, Eny Maria Goloni Bertollo, Erika Cristina Pavarino, Larissa Sampaio de Athayde, Cecilia Barbosa Buck, Maria Betânia Pereira Toralles, Maria Isabel Melaragno, Mariluce Riegel‐Giugliani, Gustavo Marquezani Spolador, Paulo Alberto Otto, Caroline Brandão Piai, Fernando Kok, Ceres Schmitz Cechella, Carla Rosenberg, Juan Clinton Llerena, Débora Romeo Bertola, Salmo Raskin, Chong Ae Kim, Ana Cristina Victorino Krepischi   +23 more
wiley   +1 more source

Correction: Urine metabolomic profiles of autism and autistic traits-A twin study. [PDF]

PLoS One
Arora A, Mastropasqua F, Bölte S, Tammimies K.   +3 more
europepmc   +1 more source