Cargando…

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of other organs. To identify disease-causing variants, we performed exome sequencing in 24 South Florida families with ASD. We iden...

Descripción completa

Detalles Bibliográficos
Autores principales:	Thanikachalam, Saradadevi, Hodapp, Elizabeth, Chang, Ta C., Morel Swols, Dayna, Cengiz, Filiz B., Guo, Shengru, Zafeer, Mohammad F., Seyhan, Serhat, Bademci, Guney, Scott, William K., Grajewski, Alana, Tekin, Mustafa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230952/ https://www.ncbi.nlm.nih.gov/pubmed/32224865 http://dx.doi.org/10.3390/genes11040350

Ejemplares similares

Dispersed DNA variants underlie hearing loss in South Florida’s minority population
por: Peart, LéShon, et al.
Publicado: (2023)

Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
por: Ramzan, Memoona, et al.
Publicado: (2023)

KBG syndrome
por: Morel Swols, Dayna, et al.
Publicado: (2017)

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
por: McSherry, Megan, et al.
Publicado: (2018)

Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation
por: Menendez, Ibis, et al.
Publicado: (2017)

A retrospective survey of childhood glaucoma prevalence according to Childhood Glaucoma Research Network classification
por: Hoguet, Ambika, et al.
Publicado: (2016)

Segmental Spinal Dysgenesis
por: Knafl, Emily, et al.
Publicado: (2020)

Segmental Spinal Dysgenesis–“Redefined”
por: Chellathurai, Amarnath, et al.
Publicado: (2019)

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies
por: Su, Meng, et al.
Publicado: (2018)

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease
por: Borja, Nicholas, et al.
Publicado: (2022)

Unilateral foveal hypoplasia in a child with bilateral anterior segment dysgenesis
por: Shields, Rebecca A, et al.
Publicado: (2015)

Anterior segment dysgenesis: Insights into the genetics and pathogenesis
por: Kaushik, Sushmita, et al.
Publicado: (2022)

Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome
por: Dhingra, Deepika, et al.
Publicado: (2019)

Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
por: Jacobs, David J, et al.
Publicado: (2012)

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
por: Pandya, Arti, et al.
Publicado: (2020)

Anterior segment dysgenesis in a child with factor VII deficiency
por: Beby, Francis, et al.
Publicado: (2007)

Segmental spinal dysgenesis with caudal agenesis in a Holstein calf
por: TOKUDOME, Kaori, et al.
Publicado: (2016)

Segmental spinal dysgenesis: A rare congenital spinal malformation
por: Naik, Suprava, et al.
Publicado: (2019)

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
por: Atik, Tahir, et al.
Publicado: (2015)

Bilateral anterior segment dysgenesis with the presumed Peters’ anomaly in a cat
por: PARK, Sangwan, et al.
Publicado: (2017)

Segmental spinal dysgenesis associated with occult dysraphism: Considerations on management strategies
por: Cacciola, Francesco, et al.
Publicado: (2017)

Dysgenesis of the posterior segment of the corpus callosum: don't miss SPG45!
por: Guimarães, Daniel de Faria, et al.
Publicado: (2023)

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
por: Bademci, Guney, et al.
Publicado: (2022)

Hand‐held optical coherence tomography imaging in children with anterior segment dysgenesis
por: Pilat, Anastasia V., et al.
Publicado: (2016)

Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis
por: Magan, Tejal, et al.
Publicado: (2022)

Paradoxical thinning of the retinal nerve fiber layer after reversal of cupping: A case report of primary infantile glaucoma
por: Chang, Ta Chen, et al.
Publicado: (2016)

Segmental spinal dysgenesis with open spinal dysraphism and Chiari II features, case report
por: Kashgari, Amna A.
Publicado: (2020)

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
por: Marakhonov, Andrey V., et al.
Publicado: (2020)

Primary cilia deficiency in neural crest cells models anterior segment dysgenesis in mouse
por: Portal, Céline, et al.
Publicado: (2019)

Case Report: Ultrasonography and Magnetic Resonance Imaging of Anterior Segment Dysgenesis in a Calf
por: Tsuka, Takeshi, et al.
Publicado: (2022)

A rare case of unilateral anterior segment dysgenesis and limb deformity in a neonate
por: Wadhwani, Meenakshi, et al.
Publicado: (2022)

Commentary: Genomic testing is a powerful tool in diagnosing and managing anterior segment dysgenesis
por: Ramappa, Muralidhar, et al.
Publicado: (2022)

Microcornea and Thickened Lens in Angle Closure following Nonsurgical Treatment of Retinopathy of Prematurity
por: Chang, Ta C., et al.
Publicado: (2020)

Symptomatic Infundibulopelvic Dysgenesis in an Adolescent
por: Pitts, Daniel, et al.
Publicado: (2015)

Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene
por: McKeone, Richard, et al.
Publicado: (2011)

Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure
por: Chang, Bo, et al.
Publicado: (2001)

Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
por: Todorova, Margarita G, et al.
Publicado: (2014)

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
por: Cheong, Sek-Shir, et al.
Publicado: (2016)

Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase
por: Solheim, Marie H., et al.
Publicado: (2017)

Challenges in Surgical Intervention for a Rare Case of Anterior Segment Dysgenesis: A Case Report
por: Aldawood, Amirah, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_o0c46bfi4tp1mdnefqais8bcih