Cargando…

Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion

Background: Distal 7q11.23 deletions are variably associated with epilepsy, intellectual disability and neurobehavioural abnormalities. The relative importance of different genes in this region in contributing to different phenotypes is not clear, though HIP1 and YWHAG are both thought to play impor...

Descripción completa

Detalles Bibliográficos
Autores principales:	Birca, Veronica, Myers, Kenneth A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2022
Materias:	Original Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036355/ https://www.ncbi.nlm.nih.gov/pubmed/35481155 http://dx.doi.org/10.1177/2329048X221093173

Ejemplares similares

Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
por: Cirillo, Emilia, et al.
Publicado: (2014)

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
por: Dutra, Roberta Lelis, et al.
Publicado: (2011)

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome
por: Wang, Yunan, et al.
Publicado: (2023)

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
por: Dentici, Maria Lisa, et al.
Publicado: (2020)

A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23
por: Bayrakli, Fatih, et al.
Publicado: (2014)

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
por: Valencia-Peña, Claudia, et al.
Publicado: (2020)

Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype
por: Song, Jieping, et al.
Publicado: (2022)

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
por: Qaiser, Farah, et al.
Publicado: (2021)

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
por: Lv, Xin, et al.
Publicado: (2023)

A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report
por: Fu, Dalin, et al.
Publicado: (2021)

LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis
por: Muthusamy, Karthik, et al.
Publicado: (2020)

A Polymer Physics Investigation of the Architecture of the Murine Orthologue of the 7q11.23 Human Locus
por: Chiariello, Andrea M., et al.
Publicado: (2017)

A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome
por: Gregory, Michael D., et al.
Publicado: (2018)

Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
por: Satoh, Shunichi, et al.
Publicado: (2020)

20p11.23-p11.21 deletion in a child with hyperinsulinemic hypoglycemia and GH deficiency: A case report
por: Sugawara, Daisuke, et al.
Publicado: (2021)

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability
por: Pinelli, Michele, et al.
Publicado: (2020)

Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant
por: Krishnamurthy, Kritika, et al.
Publicado: (2019)

Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics
por: Cupaioli, Francesca Anna, et al.
Publicado: (2021)

Partial CHARGE syndrome with bilateral retinochoroidal colobomas associated with 7q11.23 duplication syndrome: case report
por: Donabedian, Patrick L., et al.
Publicado: (2022)

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders
por: López-Tobón, Alejandro, et al.
Publicado: (2023)

Characteristics and Prognosis of 8p11.23-Amplified Squamous Lung Carcinomas
por: Voutsadakis, Ioannis A.
Publicado: (2023)

Intrafamilial Variability of ADPKD
por: Lanktree, Matthew B., et al.
Publicado: (2019)

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models
por: Deurloo, Marielle H. S., et al.
Publicado: (2018)

Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report
por: Tritto, Giovanna, et al.
Publicado: (2021)

A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion
por: Kolaitis, Gerasimos, et al.
Publicado: (2016)

Spatiotemporal 7q11.23 protein network analysis implicates the role of DNA repair pathway during human brain development
por: Chen, Liang, et al.
Publicado: (2021)

8p11.23 Amplification in Breast Cancer: Molecular Characteristics, Prognosis and Targeted Therapy
por: Voutsadakis, Ioannis A.
Publicado: (2020)

Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe
por: Morris, Colleen A, et al.
Publicado: (2011)

Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
por: Towheed, Atif, et al.
Publicado: (2021)

Inter‐ and Intrafamilial Phenotypic Variability in Individuals with Collagen‐Related Osteogenesis Imperfecta
por: Zhytnik, Lidiia, et al.
Publicado: (2020)

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family
por: González-del Pozo, María, et al.
Publicado: (2014)

A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
por: Mahdieh, Nejat, et al.
Publicado: (2018)

Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability
por: Choi, Jae-Hwan, et al.
Publicado: (2022)

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
por: Ben-Mahmoud, Afif, et al.
Publicado: (2023)

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
por: Ben-Mahmoud, Afif, et al.
Publicado: (2023)

The psychiatric phenotypes of 1q21 distal deletion and duplication
por: Linden, Stefanie C., et al.
Publicado: (2021)

Variable Intrafamilial Expression of ABCB4 Disease
por: Zampaglione, Lucia, et al.
Publicado: (2023)

Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?
por: Baas, Martijn, et al.
Publicado: (2017)

Masked inv dup(22)(q11.23), tetrasomy 8 and trisomy 19 in a blast crisis-chronic myeloid leukemia after interrupted Imatinib-treatment
por: Wafa, Abdulsamad, et al.
Publicado: (2015)

DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number
por: Strong, Emma, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_5rc9k28ohen8hqcglegfqdrd8s