Cargando…

Phenotypic Variability in Phelan–McDermid Syndrome and Its Putative Link to Environmental Factors

Phelan–McDermid syndrome (PMS) is a multi-systemic disorder characterized by both genetic and phenotypic variability. Genetic abnormalities causing PMS span from pathogenic variants of the SHANK3 gene to chromosomal rearrangements affecting the 22q13 region and leading to the loss of up to over nine...

Descripción completa

Detalles Bibliográficos
Autores principales:	Boccuto, Luigi, Mitz, Andrew, Abenavoli, Ludovico, Sarasua, Sara M., Bennett, William, Rogers, Curtis, DuPont, Barbara, Phelan, Katy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Commentary
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8950073/ https://www.ncbi.nlm.nih.gov/pubmed/35328081 http://dx.doi.org/10.3390/genes13030528

Ejemplares similares

Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome
por: Dyar, Brianna, et al.
Publicado: (2021)

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome
por: Srikanth, Sujata, et al.
Publicado: (2021)

Sleep and Phelan–McDermid Syndrome: Lessons from the International Registry and the scientific literature
por: Moffitt, Bridgette A., et al.
Publicado: (2022)

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome
por: Mitz, Andrew R., et al.
Publicado: (2018)

Stratification of a Phelan–McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor
por: Moffitt, Bridgette A., et al.
Publicado: (2023)

Phelan-McDermid syndrome: a classification system after 30 years of experience
por: Phelan, Katy, et al.
Publicado: (2022)

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
por: Oberman, Lindsay M., et al.
Publicado: (2015)

Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13
por: Sarasua, Sara M., et al.
Publicado: (2023)

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes
por: McCoy, Megan D., et al.
Publicado: (2022)

Understanding Behavior in Phelan-McDermid Syndrome
por: Landlust, Annemiek M., et al.
Publicado: (2022)

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome
por: Schenkel, L. C., et al.
Publicado: (2021)

Characterisation of the clinical phenotype in Phelan-McDermid syndrome
por: Burdeus-Olavarrieta, Mónica, et al.
Publicado: (2021)

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
por: Nevado, Julián, et al.
Publicado: (2022)

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

Dissecting the Heterogeneity of Autism: Focus on Phelan-McDermid Syndrome
por: Lamschtein, C., et al.
Publicado: (2022)

Increased Radiation Sensitivity in Patients with Phelan-McDermid Syndrome
por: Jesse, Sarah, et al.
Publicado: (2023)

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

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
por: Kim, Yoon-Myung, et al.
Publicado: (2016)

A patient with Phelan‐McDermid syndrome and dilation of the great vessels
por: Deibert, Emily, et al.
Publicado: (2019)

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
por: Srivastava, Siddharth, et al.
Publicado: (2021)

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

A framework to identify contributing genes in patients with Phelan-McDermid syndrome
por: Tabet, Anne-Claude, et al.
Publicado: (2017)

Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome
por: Frye, Richard E., 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)

Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management
por: Cammarata-Scalisi, Francisco, et al.
Publicado: (2022)

Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment
por: Ziats, Catherine A., et al.
Publicado: (2019)

Prospects of Zinc Supplementation in Autism Spectrum Disorders and Shankopathies Such as Phelan McDermid Syndrome
por: Hagmeyer, Simone, et al.
Publicado: (2018)

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

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

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

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

Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses
por: Chen, Liang, et al.
Publicado: (2022)

Descriptive Analysis of Adaptive Behavior in Phelan–McDermid Syndrome and Autism Spectrum Disorder
por: Serrada-Tejeda, Sergio, et al.
Publicado: (2022)

Prospective One-Year Follow-Up of Sensory Processing in Phelan–McDermid Syndrome
por: Serrada-Tejeda, Sergio, et al.
Publicado: (2023)

Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
por: Tabet, Anne-Claude, et al.
Publicado: (2019)

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

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

Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome
por: Smith-Hicks, Constance, et al.
Publicado: (2021)

Sensory Processing Phenotypes in Phelan-McDermid Syndrome and SYNGAP1-Related Intellectual Disability
por: Lyons-Warren, Ariel M., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_fphknf5tvdb14igsvdr7bh7mih