Cargando…

Prospective investigation of FOXP1 syndrome

BACKGROUND: Haploinsufficiency of the forkhead-box protein P1 (FOXP1) gene leads to a neurodevelopmental disorder termed FOXP1 syndrome. Previous studies in individuals carrying FOXP1 mutations and deletions have described the presence of autism spectrum disorder (ASD) traits, intellectual disabilit...

Descripción completa

Detalles Bibliográficos
Autores principales:	Siper, Paige M., De Rubeis, Silvia, Trelles, Maria del Pilar, Durkin, Allison, Di Marino, Daniele, Muratet, François, Frank, Yitzchak, Lozano, Reymundo, Eichler, Evan E., Kelly, Morgan, Beighley, Jennifer, Gerdts, Jennifer, Wallace, Arianne S., Mefford, Heather C., Bernier, Raphael A., Kolevzon, Alexander, Buxbaum, Joseph D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655854/ https://www.ncbi.nlm.nih.gov/pubmed/29090079 http://dx.doi.org/10.1186/s13229-017-0172-6

Ejemplares similares

Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms
por: Trelles, M. Pilar, et al.
Publicado: (2021)

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
por: De Rubeis, Silvia, et al.
Publicado: (2018)

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
por: Lozano, Reymundo, et al.
Publicado: (2021)

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium
por: Levy, Tess, et al.
Publicado: (2021)

Prospective and detailed behavioral phenotyping in DDX3X syndrome
por: Tang, Lara, et al.
Publicado: (2021)

CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms
por: Levy, Tess, et al.
Publicado: (2022)

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
por: Earl, Rachel K., et al.
Publicado: (2017)

Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis
por: Siper, Paige M., et al.
Publicado: (2021)

Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome
por: Kolevzon, A., et al.
Publicado: (2022)

Assessing the utility of electronic measures as a proxy for cognitive ability
por: Levy, Tess, et al.
Publicado: (2022)

Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency
por: Levy, Tess, et al.
Publicado: (2023)

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study
por: Guillory, Sylvia B., et al.
Publicado: (2021)

Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism
por: Rouhandeh, Audrey A., et al.
Publicado: (2022)

The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders
por: Gerdts, Jennifer, et al.
Publicado: (2011)

Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome
por: Wang, A. Ting, et al.
Publicado: (2016)

Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome
por: Wang, A. Ting, et al.
Publicado: (2016)

A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome
por: Fastman, J., et al.
Publicado: (2021)

Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD
por: Tavassoli, Teresa, et al.
Publicado: (2021)

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism
por: Luhrs, Kyleen, et al.
Publicado: (2017)

Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials
por: Siper, Paige M., et al.
Publicado: (2016)

Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome
por: Isenstein, Emily L., et al.
Publicado: (2022)

A proof-of-concept study of growth hormone in children with Phelan–McDermid syndrome
por: Sethuram, S., et al.
Publicado: (2022)

Genomic studies in fragile X premutation carriers
por: Lozano, Reymundo, et al.
Publicado: (2014)

Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome
por: Kolevzon, Alexander, et al.
Publicado: (2015)

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome
por: Kolevzon, Alexander, et al.
Publicado: (2014)

Longitudinal report of child with de novo 16p11.2 triplication
por: Wallace, Arianne S., et al.
Publicado: (2017)

An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome
por: Kolevzon, Alexander, et al.
Publicado: (2022)

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome
por: Kohlenberg, Teresa M., et al.
Publicado: (2020)

Late fMRI Response Components Are Altered in Autism Spectrum Disorder
por: Murray, Scott O., et al.
Publicado: (2020)

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
por: Kolevzon, Alexander, et al.
Publicado: (2014)

Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
por: Arnett, Anne B., et al.
Publicado: (2021)

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
por: Mariscal, Michael. G., et al.
Publicado: (2021)

Searching for the Achilles Heel of FOXP3
por: Lozano, Teresa, et al.
Publicado: (2013)

Neuropsychological Assessment in Autism Spectrum Disorder
por: Braconnier, Megan L., et al.
Publicado: (2021)

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
por: Kolevzon, Alexander, et al.
Publicado: (2019)

Cómo se moría en el frente : apuntes de un sub-oficial francés durante la gran guerra, 1914-1918
por: Muratet, Elie
Publicado: (1930)

Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome
por: Shuleski, Kaylynn, et al.
Publicado: (2022)

The hunt for FOXP5: a genomic mystery novel
por: Kaufman, Wallace, et al.
Publicado: (2016)

Reduced auditory cortical adaptation in autism spectrum disorder
por: Millin, Rachel, et al.
Publicado: (2018)

Comparing the Speed and Accuracy of the Smith and Waterman Algorithm as Implemented by Mpsrch with the Blast and Fasta Heuristics for Sequence Similarity Searching
por: Muratet, Michael A.
Publicado: (2002)

Cannot write session to /tmp/vufind_sessions/sess_am93g5mr1jhidvghi11b18ql7d