Results 81 to 90 of about 39,746 (275)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Visual attention in autism families: ‘unaffected’ sibs share atypical frontal activation [PDF]

, 2009
Background: In addition to their more clinically evident abnormalities of social cognition, people with autism spectrum conditions (ASC) manifest perturbations of attention and sensory perception which may offer insights into the underlying neural ...
Baron-Cohen, S, Belmonte, MK, Gomot, M
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Molecular Autism, 2017
Background Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes.
Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer   +13 more
doaj   +1 more source

The cultural epigenetics of psychopathology: The missing heritability of complex diseases found? [PDF]

, 2009
We extend a cognitive paradigm for gene expression based on the asymptotic limit theorems of information theory to the epigenetic epidemiology of mental disorders.
Wallace, Rodrick
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

What can developmental disorders tell us about the neurocomputational constraints that shape development? the case of Williams syndrome [PDF]

, 2003
The uneven cognitive phenotype in the adult outcome of Williams syndrome has led some researchers to make strong claims about the modularity of the brain and the purported genetically determined, innate specification of cognitive modules.
Karmiloff-Smith, Annette, Thomas, Michael S.C.   +1 more
core   +3 more sources

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Reduced hippocampal inhibition and enhanced autism-epilepsy comorbidity in mice lacking neuropilin 2

Translational Psychiatry, 2021
The neuropilin receptors and their secreted semaphorin ligands play key roles in brain circuit development by regulating numerous crucial neuronal processes, including the maturation of synapses and migration of GABAergic interneurons.
Carol Eisenberg, Deepak Subramanian, Milad Afrasiabi, Patryk Ziobro, Jack DeLucia, Pamela R. Hirschberg, Michael W. Shiflett, Vijayalakshmi Santhakumar, Tracy S. Tran   +8 more
doaj   +1 more source

Maternal immune activation and strain specific interactions in the development of autism-like behaviors in mice. [PDF]

, 2013
It is becoming increasingly apparent that the causes of autism spectrum disorders (ASD) are due to both genetic and environmental factors. Animal studies provide important translational models for elucidating specific genetic or environmental factors ...
Ashwood, P, Berman, RF, Careaga, M, Onore, CE, Rushakoff, JA, Schwartzer, JJ   +5 more
core   +2 more sources