Cargando…

Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess

Syndromes of mineralocorticoid excess (SME) are closely related clinical manifestations occurring within a specific set of diseases. Overlapping clinical manifestations of such syndromes often create a dilemma in accurate diagnosis, which is crucial for disease surveillance and management especially...

Descripción completa

Detalles Bibliográficos
Autores principales:	Narayanan, Ranjit, Karuthedath Vellarikkal, Shamsudheen, Jayarajan, Rijith, Verma, Ankit, Dixit, Vishal, Scaria, Vinod, Sivasubbu, Sridhar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	F1000Research 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635450/ https://www.ncbi.nlm.nih.gov/pubmed/29067160 http://dx.doi.org/10.12688/f1000research.8779.2

Ejemplares similares

Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.
por: Gupta, Aayush, et al.
Publicado: (2015)

Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
por: Karuthedath Vellarikkal, Shamsudheen, et al.
Publicado: (2016)

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
por: Rawat, Amit, et al.
Publicado: (2017)

SAGE: a comprehensive resource of genetic variants integrating South Asian whole genomes and exomes
por: Hariprakash, Judith Mary, et al.
Publicado: (2018)

Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency
por: Govindaraj, Geeta Madathil, et al.
Publicado: (2017)

A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis
por: Thottath, Jineesh, et al.
Publicado: (2019)

RNA secondary structure profiling in zebrafish reveals unique regulatory features
por: Kaushik, Kriti, et al.
Publicado: (2018)

A genome-wide map of circular RNAs in adult zebrafish
por: Sharma, Disha, et al.
Publicado: (2019)

Chamber Specific Gene Expression Landscape of the Zebrafish Heart
por: Singh, Angom Ramcharan, et al.
Publicado: (2016)

Erratum for Behera et al., Draft Genome Sequence of the Extremely Halophilic Bacterium Halomonas salina Strain CIFRI1, Isolated from the East Coast of India
por: Behera, Bijay Kumar, et al.
Publicado: (2015)

Draft Genome Sequence of the Extremely Halophilic Bacterium Halomonas salina Strain CIFRI1, Isolated from the East Coast of India
por: Behera, Bijay Kumar, et al.
Publicado: (2015)

RNA sequencing of db/db mice liver identifies lncRNA H19 as a key regulator of gluconeogenesis and hepatic glucose output
por: Goyal, Neha, et al.
Publicado: (2017)

Human 45,X Fibroblast Transcriptome Reveals Distinct Differentially Expressed Genes Including Long Noncoding RNAs Potentially Associated with the Pathophysiology of Turner Syndrome
por: Rajpathak, Shriram N., et al.
Publicado: (2014)

Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India
por: Vellarikkal, Shamsudheen K, et al.
Publicado: (2014)

Draft Genome Sequence of an Extensively Drug-Resistant Mycobacterium tuberculosis Clinical Isolate of the Ural Strain OSDD493
por: Karuthedath Vellarikkal, Shamsudheen, et al.
Publicado: (2013)

Draft Genome Sequence of Multidrug-Resistant Mycobacterium tuberculosis Clinical Isolate OSDD515, Belonging to the Uganda I Genotype
por: Vellarikkal, Shamsudheen Karuthedath, et al.
Publicado: (2013)

Draft Genome Sequence of a Multidrug-Resistant Clinical Isolate of Mycobacterium tuberculosis Belonging to a Novel Spoligotype
por: Vellarikkal, Shamsudheen Karuthedath, et al.
Publicado: (2013)

Aptamer-Assisted Detection of the Altered Expression of Estrogen Receptor Alpha in Human Breast Cancer
por: Ahirwar, Rajesh, et al.
Publicado: (2016)

Large scale changes in the transcriptome of Eisenia fetida during regeneration
por: Bhambri, Aksheev, et al.
Publicado: (2018)

Screening Currency Notes for Microbial Pathogens and Antibiotic Resistance Genes Using a Shotgun Metagenomic Approach
por: Jalali, Saakshi, et al.
Publicado: (2015)

Comparative Whole-Genome Analysis of Clinical Isolates Reveals Characteristic Architecture of Mycobacterium tuberculosis Pangenome
por: Periwal, Vinita, et al.
Publicado: (2015)

Draft Genome Sequence of a Clinical Isolate of Multidrug-Resistant Mycobacterium tuberculosis East African Indian Strain OSDD271
por: Karuthedath Vellarikkal, Shamsudheen, et al.
Publicado: (2013)

Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India
por: Vanlallawma, Andrew, et al.
Publicado: (2022)

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome
por: Govindaraj, Geeta Madathil, et al.
Publicado: (2020)

Genomics of rare genetic diseases—experiences from India
por: Sivasubbu, Sridhar, et al.
Publicado: (2019)

Draft Genome Sequence of Urease-Producing Sporosarcina pasteurii with Potential Application in Biocement Production
por: Tiwari, Pradeep Kumar, et al.
Publicado: (2014)

Dynamic Expression of Long Non-Coding RNAs (lncRNAs) in Adult Zebrafish
por: Kaushik, Kriti, et al.
Publicado: (2013)

A Case for Pharmacogenomics in Management of Cardiac Arrhythmias
por: Kandoi, Gaurav, et al.
Publicado: (2012)

A genome-wide circular RNA transcriptome in rat
por: Sharma, Disha, et al.
Publicado: (2021)

Posaconazole-Induced Apparent Mineralocorticoid Excess
por: Pandit, Amar, et al.
Publicado: (2020)

Cardiovascular Remodeling in Chronic Mineralocorticoid Excess
por: Bhattad, Pradnya Brijmohan, et al.
Publicado: (2023)

zflncRNApedia: A Comprehensive Online Resource for Zebrafish Long Non-Coding RNAs
por: Dhiman, Heena, et al.
Publicado: (2015)

Mineralocorticoid hypertension
por: Gupta, Vishal
Publicado: (2011)

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets
por: Sharma, Parul, et al.
Publicado: (2021)

Systematic Transcriptome Wide Analysis of lncRNA-miRNA Interactions
por: Jalali, Saakshi, et al.
Publicado: (2013)

Benign adrenal adenomas secreting excess mineralocorticoids and glucocorticoids
por: Yoon, Vivienne, et al.
Publicado: (2013)

Apparent mineralocorticoid excess: comprehensive overview of molecular genetics
por: Lu, Yi-ting, et al.
Publicado: (2022)

De novo identification of viral pathogens from cell culture hologenomes
por: Patowary, Ashok, et al.
Publicado: (2012)

Pharmacogenomic landscape of Indian population using whole genomes
por: Sahana, S., et al.
Publicado: (2022)

Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess
por: Zahraldin, Khalid, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_vn2o13q5jjcnfvh8tctpaf4tr5