Results 241 to 250 of about 62,777 (346)

Exploring the interplay of sensory hypersensitivity and autistic traits in children. [PDF]

BMC Psychol
Keshavarz S, Esmaeilpour K.
europepmc   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Use of a video scoring anchor for rapid serial assessment of social communication in toddlers [PDF]

, 2018
Constantino, John N, Glowinski, Anne L, Harris, Brooke, Kennon-McGill, Stefanie, Marrus, Natasha, Zhang, Yi   +5 more
core   +2 more sources

Corrigendum: Dynamic eye avoidance patterns in the high autistic traits group: an eye-tracking study [PDF]

Huiqin Xue, Ludan Zhang, Junling Wang, Wei Liu, Shuang Liu, Dong Ming   +5 more
openalex   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Intermediating the Effect of Inter-Stimuli Interval in Repetition Suppression of Face Images among Adults with High and Low Levels of Autistic-Like Traits

, 2019
Somayeh Maleki-Karamolah, Ahmad Sohrabi, Parastou Kordestani-Moghadam   +2 more
openalex   +1 more source

Sex/gender differences in autistic traits, intelligence and executive functions of school-aged autistic children without intellectual disability. [PDF]

Arch Womens Ment Health
Polónyiová K, Teličák P, Kyselicová K, Dukonyová D, Ostatníková D.   +4 more
europepmc   +1 more source

Intolerance of Uncertainty and Anxiety (but not Alexithymia) Mediate the Association Between Autistic Traits and Quality of Life [PDF]

Yeju Lin, David Mason, Colette R. Hirsch, Francesca Happé   +3 more
openalex   +1 more source

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source