95 results on '"Maharaj, Avinaash"'
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2. Investigating the role of sphingolipids in steroidgenesis and adrenal disease
3. Approach to the Patient With Suspected Silver-Russell Syndrome.
4. Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome
5. QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction
6. Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
7. Genetic Aetiology of Primary Adrenal Insufficiency in Sudan
8. Characterisation of dominant-negative GH receptor variants reveals a potential therapeutic target for short stature
9. Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma
10. Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma
11. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
12. RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.
13. The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing
14. 86 - Genetic Disorders of the Adrenal Cortex
15. A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
16. Genetic analysis of patients with undiagnosed short stature identified novel dominant negative GH receptor variants which provide important insights into GHR physiology
17. Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature.
18. Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma
19. A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES
20. Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report
21. Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency
22. Novel dominant negative GH receptor variants provide important insights into GH receptor physiology
23. Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity
24. In vitro splicing assay proves the pathogenicity of intronic variants in MRAP
25. SGPL1 regulates expression of electron transport chain components to modulate cellular metabolism in the adrenal gland
26. Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency
27. Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity
28. Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
29. Supplemental table and figures for 'GROWTH HORMONE RECEPTOR (GHR) 6Ω PSEUDOEXON ACTIVATION - A NOVEL CAUSE OF SEVERE GROWTH HORMONE INSENSITIVITY (GHI)' manuscript by Cottrell et al.docx
30. Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years’ Experience in the UK
31. Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies
32. Contributors
33. A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy
34. Mylk3null C57BL/6N mice develop cardiomyopathy, whereasNntnull C57BL/6J mice do not
35. GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients
36. Growth Hormone Receptor (GHR) 6O Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity.
37. Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
38. Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing
39. Rare causes of primary adrenal insufficiency (PAI) in children from Sudan
40. SGPL1 deficiency leads to accumulation of sphingolipid species and downregulation of key enzymes within the steroidogenic pathway
41. Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway
42. Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity
43. Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2
44. Isolated glucocorticoid deficiency: Genetic causes and animal models
45. Growth Hormone Receptor (GHR)6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity
46. Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency
47. A second GH Receptor pseudoexon mutation causing frameshift and severe postnatal growth failure
48. Genotype-phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation
49. A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure
50. Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
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