Cargando…

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

X-linked Intellectual Disability (XLID) is a group of genetically heterogeneous disorders caused by mutations in genes on the X chromosome. Deleterious mutations in ~10% of X chromosome genes are implicated in causing XLID disorders in ~50% of known and suspected XLID families. The remaining XLID ge...

Descripción completa

Detalles Bibliográficos
Autores principales:	Niranjan, Tejasvi S., Skinner, Cindy, May, Melanie, Turner, Tychele, Rose, Rebecca, Stevenson, Roger, Schwartz, Charles E., Wang, Tao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332666/ https://www.ncbi.nlm.nih.gov/pubmed/25679214 http://dx.doi.org/10.1371/journal.pone.0116454

Ejemplares similares

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders
por: Srivastava, Siddharth, et al.
Publicado: (2019)

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism
por: Long, Philip, et al.
Publicado: (2016)

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
por: Hu, H, et al.
Publicado: (2016)

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
por: Haghshenas, Sadegheh, et al.
Publicado: (2021)

Novel USP9X variants in two patients with X-linked intellectual disability
por: Tsurusaki, Yoshinori, et al.
Publicado: (2019)

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
por: Friez, Michael J, et al.
Publicado: (2016)

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
por: Philips, Anju K, et al.
Publicado: (2014)

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability
por: Lee, Yu-Ri, et al.
Publicado: (2023)

MicroRNAs and intellectual disability (ID) in Down syndrome, X-linked ID, and Fragile X syndrome
por: Siew, Wei-Hong, et al.
Publicado: (2013)

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family
por: Duan, Yongheng, et al.
Publicado: (2017)

Development and validation of a multiplex-PCR assay for X-linked intellectual disability
por: Jorge, Paula, et al.
Publicado: (2013)

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
por: Ibarluzea, Nekane, et al.
Publicado: (2020)

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
por: Saida, Ken, et al.
Publicado: (2021)

X-linked intellectual disability related to a novel variant of KLHL15
por: Kido, Jun, et al.
Publicado: (2023)

O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability
por: Konzman, Daniel, et al.
Publicado: (2020)

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis
por: Godler, David E., et al.
Publicado: (2015)

Exome sequencing in unspecific intellectual disability and rare disorders
por: Rauch, Anita
Publicado: (2014)

Evaluation of the PlusoptiX photoscreener in the examination of children with intellectual disabilities
por: Raffa, Lina H., et al.
Publicado: (2021)

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome
por: Abekhoukh, Sabiha, et al.
Publicado: (2014)

Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability
por: Pravata, Veronica M., et al.
Publicado: (2019)

Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability
por: Daoqi, Mei, et al.
Publicado: (2020)

Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability
por: Wu, Po-Ming, et al.
Publicado: (2021)

Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy
por: Guzman, Raul E., et al.
Publicado: (2022)

Variants in BRWD3 associated with X‐linked partial epilepsy without intellectual disability
por: Tian, Mao‐Qiang, et al.
Publicado: (2022)

Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability
por: Li, Sinan, et al.
Publicado: (2023)

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele
por: Sun, Yixi, et al.
Publicado: (2022)

X-linked Hyper IgM (HIGM1) in an African kindred: the first report from South Africa
por: Pienaar, Sandra, et al.
Publicado: (2003)

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
por: Czeschik, Johanna Christina, et al.
Publicado: (2013)

A novel MED12 mutation associated with non-specific X-linked intellectual disability
por: Yamamoto, Toshiyuki, et al.
Publicado: (2015)

Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability
por: Bosshard, Matthias, et al.
Publicado: (2017)

Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
por: Sanchis-Juan, Alba, et al.
Publicado: (2019)

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability
por: Allegra, Manuela, et al.
Publicado: (2017)

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
por: Willems, Anke P., et al.
Publicado: (2017)

ARHGEF9 mutations cause a specific recognizable X-linked intellectual disability syndrome
por: Striano, Pasquale, et al.
Publicado: (2017)

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability
por: Benmakhlouf, Yousra, et al.
Publicado: (2021)

Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability
por: Kashevarova, A. A., et al.
Publicado: (2023)

Exome sequencing identifies novel and known mutations in families with intellectual disability
por: Rasheed, Memoona, et al.
Publicado: (2021)

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
por: Bruno, Lucia Pia, et al.
Publicado: (2021)

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
por: Mir, Atefeh, et al.
Publicado: (2023)

Kindred spirits?
por: Gamson, Joshua
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_ja2cskliv50of812jnlvkappgc