Cargando…

Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka

Fragile X syndrome (FXS) is the commonest cause of inherited mental retardation and clinically presents with learning, emotional and behaviour problems. FXS is caused by expansion of cytosine-guanine-guanine (CGG) repeats present in the 5’ untranslated region of the FMR1 gene. The aim of this study...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chandrasekara, C. H. W. M. R. Bhagya, Wijesundera, W. S. Sulochana, Perera, Hemamali N., Chong, Samuel S., Rajan-Babu, Indhu-Shree
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/PMC4687912/ https://www.ncbi.nlm.nih.gov/pubmed/26694146 http://dx.doi.org/10.1371/journal.pone.0145537

Ejemplares similares

Polymerase chain reaction optimization for amplification of Guanine-Cytosine rich templates using buccal cell DNA
por: Bhagya, C. H. W. M. R. Chandrasekara, et al.
Publicado: (2013)

FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome
por: Rajan-Babu, Indhu-Shree, et al.
Publicado: (2017)

Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene
por: Lim, Grace X. Y., et al.
Publicado: (2017)

Universal barcoding regions, rbcL, matK and trnH-psbA do not discriminate Cinnamomum species in Sri Lanka
por: Chandrasekara, C. H. W. M. R. Bhagya, et al.
Publicado: (2021)

ATR protects the genome against CGG·CCG-repeat expansion in Fragile X premutation mice
por: Entezam, Ali, et al.
Publicado: (2008)

Linked-read sequencing for detecting short tandem repeat expansions
por: Chiu, Readman, et al.
Publicado: (2022)

Outcome of Home-Based Early Intervention for Autism in Sri Lanka: Follow-Up of a Cohort and Comparison with a Nonintervention Group
por: Perera, Hemamali, et al.
Publicado: (2016)

Prevalence of G6PD deficiency in selected populations from two previously high malaria endemic areas of Sri Lanka
por: Gunawardena, Sharmini, et al.
Publicado: (2017)

Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences
por: Chiu, Readman, et al.
Publicado: (2021)

Comparison of phenolic content and antioxidant activities of millet varieties grown in different locations in Sri Lanka
por: Kumari, Disna, et al.
Publicado: (2016)

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
por: Loomis, Erick W., et al.
Publicado: (2013)

Swine Influenza in Sri Lanka
por: Perera, Harsha K. K., et al.
Publicado: (2013)

The impact of visual complexity on perceived safety and comfort of the users: A study on urban streetscape of Sri Lanka
por: Kawshalya, L. W. G., et al.
Publicado: (2022)

Simplified strategy for rapid first-line screening of fragile X syndrome: closed-tube triplet-primed PCR and amplicon melt peak analysis
por: Rajan-Babu, Indhu-Shree, et al.
Publicado: (2015)

Chloroplast genome, nuclear ITS regions, mitogenome regions, and Skmer analysis resolved the genetic relationship among Cinnamomum species in Sri Lanka
por: Bandaranayake, Pradeepa C. G., et al.
Publicado: (2023)

Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders
por: Rajan-Babu, Indhu-Shree, et al.
Publicado: (2016)

Prevalence of Chronic Complications, Their Risk Factors, and the Cardiovascular Risk Factors among Patients with Type 2 Diabetes Attending the Diabetic Clinic at a Tertiary Care Hospital in Sri Lanka
por: Arambewela, Maulee Hiromi, et al.
Publicado: (2018)

Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration
por: Xu, Keqin, et al.
Publicado: (2021)

Nutritional intake of sport undergraduates in Sabaragamuwa University of Sri Lanka
por: Rupasinghe, W. A. W. S., et al.
Publicado: (2023)

Anaemia among Female Undergraduates Residing in the Hostels of University of Sri Jayewardenepura, Sri Lanka
por: Chathuranga, Gayashan, et al.
Publicado: (2014)

Melioidosis in Sri Lanka
por: Corea, Enoka M., et al.
Publicado: (2018)

Evidence for Seroprevalence in Human Localized Cutaneous Leishmaniasis Caused by Leishmania donovani in Sri Lanka
por: Siriwardana, Yamuna Deepani, et al.
Publicado: (2018)

Leishmania donovani Induced Cutaneous Leishmaniasis: An Insight into Atypical Clinical Variants in Sri Lanka
por: Siriwardana, Yamuna, et al.
Publicado: (2019)

Fuzzy Multidimensional Model to Cluster Dengue Risk in Sri Lanka
por: Piyatilake, I. T. S., et al.
Publicado: (2020)

Genetics and genomic medicine in Sri Lanka
por: Sirisena, Nirmala D., et al.
Publicado: (2019)

In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study
por: Branavan, Umayal, et al.
Publicado: (2020)

P286 Histoplasmosis in Sri Lanka
por: Sigera, Liyanage Shamithra Madhumali, et al.
Publicado: (2022)

Effect of Common Culinary Methods Practiced in Sri Lanka on the Nutrient Composition of Commonly Consumed Vegetables and Other Foods
por: Dewangani, H. G. N., et al.
Publicado: (2021)

Prevalence and associated factors of antenatal depression of women attending antenatal clinics in two tertiary care maternity hospitals in Sri Lanka
por: Suraweera, Chathurie, et al.
Publicado: (2021)

Analysis and forecast of dengue incidence in urban Colombo, Sri Lanka
por: Erandi, KKWH, et al.
Publicado: (2021)

The Characteristics of Autistic Children Attending a Neuro-Developmental Center in Northern Sri Lanka
por: Sivayokan, Bhavana, et al.
Publicado: (2023)

COVID-19 Epidemic in Sri Lanka: A Mathematical and Computational Modelling Approach to Control
por: Wickramaarachchi, W. P. T. M., et al.
Publicado: (2020)

Developing Appropriate Pulmonary Rehabilitation Services in Sri Lanka: Assessment of People Living with COPD and Healthcare Providers in Urban and Semi Urban Areas in Sri Lanka
por: Perera, A Chamilya H, et al.
Publicado: (2022)

History of opium in Sri Lanka.
por: Uragoda, C G
Publicado: (1983)

Cutaneous Leishmaniasis, Sri Lanka
por: Nawaratna, Sujeevi S.K., et al.
Publicado: (2007)

Sri Lanka Malaria Maps
por: Briët, Olivier JT, et al.
Publicado: (2003)

Pesticide exposure in Sri Lanka
por: Knipe, DW
Publicado: (2016)

Liver Disease in Sri Lanka
por: Wijewantha, Hasitha S
Publicado: (2017)

Cervical Cancer in Sri Lanka
por: Iqbal, Ahamed, et al.
Publicado: (2023)

A case report of melioidosis complicated by infective sacroiliitis in Sri Lanka
por: Karunarathna, A. K. T. M., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_ojmrmjkhlmimj9n2rtr7suiibi