Results 231 to 240 of about 39,746 (275)

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Filled Pause Use in Autistic Adults and Their First-Degree Relatives: Gender Differences and Within-Family Associations. [PDF]

J Speech Lang Hear Res
Friedman L, Maltman N, Sterling A, Hudock RL, DaWalt LS.   +4 more
europepmc   +1 more source

Na_vigating Phenotypic Characterization and CRISPRa Restoration for <i>SCN2A</i> Haploinsufficiency Disorders. [PDF]

Epilepsy Curr
Wong JC.
europepmc   +1 more source

Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome. [PDF]

Hum Genome Var
Hirai S, Mitsubuchi H, Matsumoto S.
europepmc   +1 more source

Characterization of a novel inherited splice-site variant in <i>MAPK8IP3</i> expands the genetic and phenotypic spectrum of neurodevelopmental disorders. [PDF]

Biochem Biophys Rep
Yi S, Yang Q, Song X, Huang L, Yi S, Qin Z, Luo J.   +6 more
europepmc   +1 more source

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The Broad Autism Phenotype Questionnaire

Journal of Autism and Developmental Disorders, 2006
The broad autism phenotype (BAP) is a set of personality and language characteristics that reflect the phenotypic expression of the genetic liability to autism, in non-autistic relatives of autistic individuals. These characteristics are milder but qualitatively similar to the defining features of autism. A new instrument designed to measure the BAP in
Molly Losh, Joseph Piven
exaly   +3 more sources

Aging and autism spectrum disorder: Evidence from the broad autism phenotype [PDF]

Autism Research, 2016
This study investigated for the first time the broad autism phenotype (BAP) in the context of older adulthood and its associations with real‐world executive function, social support, and both depression and anxiety symptomatology. Based on self‐ratings of autistic traits, 66 older adults (60+ years old, range = 61–88) were split into BAP (n = 20) and ...
Gregory L Wallace, Jessica Budgett, Rebecca A Charlton   +2 more
exaly   +3 more sources

Family History of Eating Disorder and the Broad Autism Phenotype in Autism

Autism Research, 2020
AbstractAutism features occur frequently among individuals with eating disorders (ED). This co‐occurrence is not well understood but there is speculation that select traits (e.g., rigidity) are common to both autism and ED. To explore the co‐occurrence of autistic traits and ED features, we used the Simons Simplex Collection (SSC; N = 2,623 families ...
Bianca A. Barrionuevo, Aneesa R. Chowdhury, Joycelyn M. Lee, Nicole D. Dueker, Eden R. Martin, Margaret A. Pericak‐Vance, Michael Cuccaro   +6 more
openaire   +2 more sources