Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children
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- Type
- article
- Published
- 2015-08-05
- Cited by
- 51
- References
- 50
- Access
- Open access
- OpenAlex
- https://openalex.org/W1797304158
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:691672
Keywords
Adrenal insufficiency, Congenital adrenal hyperplasia, Exome sequencing, Medicine, Primary Adrenal Insufficiency
References
- ACTH resistance: genes and mechanisms.
- Using XHMM software to detect copy number variation in whole-exome sequencing data
- A newly identified polymorphism in the apolipoprotein E enhancer gene region is associated with Alzheimer's disease and strongly with the epsilon 4 allele
- Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
- Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
- Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes
- A beginners guide to SNP calling from high-throughput DNA-sequencing data
- Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)
- Performance comparison of whole-genome sequencing platforms
- Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor.
- Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal.
- Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
- Argonaute—a database for gene regulation by mammalian microRNAs
- Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.
- Steroidogenic Factor-1 and Human Disease
- Exome sequencing identifies the cause of a Mendelian disorder
- Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.
- Unlocking Mendelian disease using exome sequencing
- Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21‐hydroxylase (CYP21A2) deficiency: a systematic review and meta‐analyses
Cited by
- Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?
- Disorders in the initial steps of steroid hormone synthesis.
- NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
- Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report☆
- Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
- Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
- MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction.
- Genetic defects in pediatric-onset adrenal insufficiency in Japan.
- A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
- Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia
- Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
- Familial Glucocorticoid Defificiency in a Newborn Caused by a Mutation in Melanocortin 2 Receptor: Case Report
- 17-hydroxyprogesterone levels in blood from the heels of healthy full-term newborns
- A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing
- Primary adrenal insufficiency in children: Diagnosis and management.
- Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene
- Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency
- A multiplex ligation‑dependent probe amplification‑based next‑generation sequencing approach for the detection of copy number variations in the human genome.
- Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
- Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency
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