Cargando…

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

Recent array-based studies have detected a wealth of copy number variations (CNVs) in patients with autism spectrum disorders (ASD). Since CNVs also occur in healthy individuals, their contributions to the patient’s phenotype remain largely unclear. In a cohort of children with symptoms of ASD, diag...

Descripción completa

Detalles Bibliográficos
Autores principales:	van Daalen, Emma, Kemner, Chantal, Verbeek, Nienke E., van der Zwaag, Bert, Dijkhuizen, Trijnie, Rump, Patrick, Houben, Renske, van ‘t Slot, Ruben, de Jonge, Maretha V., Staal, Wouter G., Beemer, Frits A., Vorstman, Jacob A. S., Burbach, J. Peter H., van Amstel, Hans Kristian Ploos, Hochstenbach, Ron, Brilstra, Eva H., Poot, Martin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer-Verlag 2011
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215885/ https://www.ncbi.nlm.nih.gov/pubmed/21837366 http://dx.doi.org/10.1007/s10048-011-0297-2

Ejemplares similares

Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism
por: van der Zwaag, Bert, et al.
Publicado: (2009)

Stop and Change: Inhibition and Flexibility Skills Are Related to Repetitive Behavior in Children and Young Adults with Autism Spectrum Disorders
por: Mostert-Kerckhoffs, Mandy A. L., et al.
Publicado: (2015)

Morphological Features in Children with Autism Spectrum Disorders: A Matched Case–Control Study
por: Ozgen, Heval, et al.
Publicado: (2010)

Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotypes
por: Bruining, Hilgo, et al.
Publicado: (2010)

Is It Fear? Similar Brain Responses to Fearful and Neutral Faces in Infants with a Heightened Likelihood for Autism Spectrum Disorder
por: Di Lorenzo, Renata, et al.
Publicado: (2020)

Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms
por: Knijnenburg, Jeroen, et al.
Publicado: (2005)

Brief Report: The Dopamine-3-Receptor Gene (DRD3) is Associated with Specific Repetitive Behavior in Autism Spectrum Disorder (ASD)
por: Staal, Wouter G., et al.
Publicado: (2011)

Copy number variation in a hospital‐based cohort of children with epilepsy
por: Vlaskamp, Danique R. M., et al.
Publicado: (2017)

Identification of candidate genes for developmental colour agnosia in a single unique family
por: Nijboer, Tanja C. W., et al.
Publicado: (2023)

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18
por: Hochstenbach, R., et al.
Publicado: (2015)

Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study
por: Verbeek, Nienke E., et al.
Publicado: (2013)

The effectiveness of a nurse-led intervention with the distress thermometer for patients treated with curative intent for breast cancer: design of a randomized controlled trial
por: Ploos van Amstel, Floortje K., et al.
Publicado: (2016)

Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands
por: Elferink, MG, et al.
Publicado: (2015)

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
por: Engwerda, Aafke, et al.
Publicado: (2023)

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines
por: Hitzert, M. M., et al.
Publicado: (2019)

Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report
por: Ross, Jamila, et al.
Publicado: (2019)

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
por: Rraku, Eleana, et al.
Publicado: (2023)

The transcription factor Uncx4.1 acts in a short window of midbrain dopaminergic neuron differentiation
por: Rabe, Tamara I, et al.
Publicado: (2012)

Predictive Value of Morphological Features in Patients with Autism versus Normal Controls
por: Ozgen, H., et al.
Publicado: (2012)

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists
por: El Mecky, Julia, et al.
Publicado: (2019)

Association of Cell Adhesion Molecules Contactin-6 and Latrophilin-1 Regulates Neuronal Apoptosis
por: Zuko, Amila, et al.
Publicado: (2016)

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries
por: van Heerwaarde, Alise A, et al.
Publicado: (2021)

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation
por: Cooiman, Mellody I., et al.
Publicado: (2019)

Experiences of bereaved family caregivers with shared decision making in palliative cancer treatment: a qualitative interview study
por: van Oosterhout, Sanne P. C., et al.
Publicado: (2021)

Inter-rater reliability and stability of diagnoses of autism spectrum disorder in children identified through screening at a very young age
por: van Daalen, Emma, et al.
Publicado: (2009)

Proline and COMT Status Affect Visual Connectivity in Children with 22q11.2 Deletion Syndrome
por: Magnée, Maurice J. C. M., et al.
Publicado: (2011)

Cancer Genetic Counseling: Communication and Counselees’ Post-Visit Satisfaction, Cognitions, Anxiety, and Needs Fulfillment
por: Pieterse, Arwen H., et al.
Publicado: (2007)

Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation
por: Ross, Jamila N., et al.
Publicado: (2021)

Evaluation of the ADOS Revised Algorithm: The Applicability in 558 Dutch Children and Adolescents
por: de Bildt, Annelies, et al.
Publicado: (2009)

Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling
por: Stevens-Kroef, Marian JPL, et al.
Publicado: (2014)

Exclusion as urban policy: The Dutch ‘Act on Extraordinary Measures for Urban Problems’
por: van Gent, Wouter, et al.
Publicado: (2017)

University students’ mental health and emotional wellbeing during the COVID-19 pandemic and ensuing lockdown
por: Visser, Maretha, et al.
Publicado: (2021)

The efficacy of a rubber bristles interdental cleaner on parameters of oral soft tissue health‐a systematic review‐
por: van der Weijden, Fridus, et al.
Publicado: (2021)

Renal replacement therapy for children throughout the world: the need for a global registry
por: Ploos van Amstel, Sophie, et al.
Publicado: (2017)

The genetic overlap of attention deficit hyperactivity disorder and autistic spectrum disorder
por: Stam, Arie J, et al.
Publicado: (2009)

Unlocking Pain Relief for Chronic Low Back Pain: The Potential of the 4xT Method(®) – A Dual Case Study Analysis
por: van Amstel, Robbert N., et al.
Publicado: (2023)

Definitions used for a healthy periodontium—A systematic review
por: Li, An, et al.
Publicado: (2020)

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports
por: Engwerda, Aafke, et al.
Publicado: (2018)

Outcomes after appendectomy in children with acute appendicitis treated at a tertiary paediatric centre: results from a retrospective cohort study
por: Knaapen, Max, et al.
Publicado: (2020)

Dental plaque score reduction with an oscillating‐rotating power toothbrush and a high‐frequency sonic power toothbrush: a systematic review and meta‐analysis of single‐brushing exercises
por: van der Sluijs, Eveline, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_s0aba7o8qu4mthk6h787dpj4gu