Agnes Selina

Ida Scudder Road
Vellore, TN, India

Last Updated: 09/26/2026

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Found 13 publications

Type V Osteogenesis Imperfecta in an Indian Cohort: Phenotypic Variability and Radiological Insights in IFITM5-Related Bone Fragility.

Type V Osteogenesis Imperfecta in an Indian Cohort: Phenotypic Variability and Radiological Insights in IFITM5-Related Bone Fragility.

Journal: Indian journal of orthopaedics
Published: November 04, 2025

Atypical Fibrodysplasia Ossificans Progressiva with G328E Variant and Digit Reduction Abnormalities: A Report of 2 Cases.

Atypical Fibrodysplasia Ossificans Progressiva with G328E Variant and Digit Reduction Abnormalities: A Report of 2 Cases.

Journal: JBJS case connector
Published: September 05, 2025

Corrigendum to "SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India" [Bone Rep. 2023 May 26;18:101690. doi: 10.1016/j.bonr.2023.101690].

Corrigendum to "SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India" [Bone Rep. 2023 May 26;18:101690. doi: 10.1016/j.bonr.2023.101690].

Journal: Bone reports
Published: April 03, 2025

Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report.

Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report.

Journal: JBJS case connector
Published: July 26, 2024

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.

COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.

Journal: American journal of medical genetics. Part A
Published: April 02, 2024

Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome.

Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome.

Journal: JBJS case connector
Published: January 05, 2024

SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.

SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India.

Journal: Bone reports
Published: March 01, 2023

A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta.

A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta.

Journal: Indian journal of pediatrics
Published: October 14, 2022

Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.

Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report.

Journal: Malaysian orthopaedic journal
Published: August 09, 2021

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation.

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation.

Journal: Indian journal of ophthalmology
Published: October 30, 2020

A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia.

A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia.

Journal: Indian journal of pediatrics
Published: August 23, 2020

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Journal: Annals of human genetics
Published: May 10, 2020
Showing 1-12 of 13

Last Updated: 09/26/2026