Sneha Arya

发表

Clinical, Hormonal, Genetic, and Molecular Characteristics in Androgen Insensitivity Syndrome in an Asian Indian Cohort from a Single Centre in Western India

A. Kunwar, N. Shah, V. Sarathi, 2021, Sexual Development.

Genotype–Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism

V. Sarathi, P. Hira, Anima Sharma, 2022, Calcified Tissue International.

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature

A. Kunwar, N. Shah, V. Sarathi, 2022, Journal of the Endocrine Society.

Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events

N. Shah, V. Sarathi, S. Memon, 2022, Pituitary.

Octreotide-LAR is a Useful Alternative for the Management of Diazoxide-Responsive Congenital Hyperinsulinism

S. Flanagan, N. Shah, V. Sarathi, 2021, Hormone and Metabolic Research.

Implications of MGMT methylation status in pituitary adenoma.

V. Santosh, A. Arivazhagan, S. Shwetha, 2014, Pathology, research and practice.

Side‐chain cleavage enzyme deficiency: Systematic review and case series

A. Kunwar, V. Sarathi, S. Memon, 2022, Clinical endocrinology.

Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma

N. Shah, V. Sarathi, H. Thakkar, 2021, Endocrine connections.

17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role‐focused systematic review

A. Kunwar, N. Shah, Bajarang Vasant Kumbhar, 2022, Clinical endocrinology.

Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

K. Koehler, A. Huebner, S. Nair, 2017, Endocrine connections.

Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity

N. Shah, V. Shivane, V. Sarathi, 2020, Pituitary.

Periodic Paralysis

R. Griggs, Sneha Arya, 1983 .

Genetic spectrum of Kallmann syndrome: Single‐center experience and systematic review

N. Shah, V. Sarathi, S. Memon, 2022, Clinical endocrinology.

Expanding genetic spectrum and discriminatory role of steroid profiling by LC‐MS/MS in 11β‐hydroxylase deficiency

A. Kunwar, N. Shah, V. Sarathi, 2020, Clinical endocrinology.

Luteinizing hormone β‐subunit deficiency: Report of a novel LHB likely pathogenic variant and a systematic review of the published literature

A. Kunwar, N. Shah, V. Sarathi, 2022, Clinical Endocrinology.

Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.

A. Kunwar, N. Shah, K. Khadilkar, 2020, European journal of endocrinology.

POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature

N. Shah, V. Sarathi, Jugal V. Gada, 2021, Pituitary.

Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review

A. Kunwar, Robin Garg, V. Sarathi, 2023, Calcified Tissue International.

Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review

N. Shah, V. Sarathi, Alka V. Ekbote, 2022, Pituitary.

GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review

A. Kunwar, N. Shah, V. Sarathi, 2021, Neuroendocrinology.

NEURO/MEDICAL ONCOLOGY

Scott N. Hwang, Katrina H. Smith, Susan M. Chang, 2013 .

Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.

N. Shah, V. Sarathi, S. Memon, 2023, Calcified tissue international.

Pediatric Macrocorticotropinoma: Do They Differ from Microcorticotropinoma?

N. Shah, V. Sarathi, S. Memon, 2023, Neuroendocrinology.