Concepedia

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India

Priyanka Gangodkar, Vaman Khadilkar, P. Raghupathy, Rakesh Kumar, Archana Arya Dayal, Devi Dayal, Ahila Ayyavoo, Tushar Godbole, Rahul Jahagirdar, Kavitha Bhat,

Endocrine · 2020 · 32 citations · 31 references

Concepts

MedicineEndocrinologyMolecular GeneticsMedical GeneticsPharmacogeneticsPharmacogenomicsAdrenal Disorder GeneticsAdrenal DisordersAdrenal EndocrinologyGenetic DisordersPharmacogenomic TestingSteroid Metabolism DisordersCyp21a2 MutationsSteroidogenic Enzyme DefectsSteroidogenic Enzyme Mutations

References

31

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Ensembl Variant Effect Predictor

William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Phyllis Speiser, Ricardo Azziz, Laurence S. Baskin et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 1.5K citations · Full text

Medicine, Endocrinology, Pediatrics +17

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Phyllis Speiser, Wiebke Arlt, Richard J. Auchus et al. · The Journal of Clinical Endocrinology & Metabolism · 2018 · 1.2K citations · Full text

Medicine, Endocrinology, Pediatrics +17

Congenital adrenal hyperplasia

The Lancet · 2017 · 643 citations