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  1. No Access

    Article

    Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl

    Pediatric restrictive cardiomyopathy (RCM) is the rarest in its group and accounts for only 2.5–5% of all the diagnosed cardiomyopathies in children. It is a relentless disease with poor prognosis, and heart t...

    Vivek Kumar, Pramod Kumar, Lakshita Chauhan, Aradhana Dwivedi… in Journal of Genetics (2022)

  2. Article

    Open Access

    Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

    Von Hippel–Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in VHL gene. It is characterized by the formation of benign and malignant tumors like retinal angioma, cerebellar hemangioblas...

    Aradhana Dwivedi, Amita Moirangthem… in Egyptian Journal of Medical Human Genetics (2022)

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  3. Article

    Hypertrophic Obstructive Cardiomyopathy in an Infant with Neuroblastoma

    Sanjeev Khera, H. Ravi Ramamurthy, Randhir Ranjan… in Indian Journal of Pediatrics (2021)

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  4. No Access

    Article

    Prenatal Diagnosis of Radial Ray Defect Associated with Fanconi Anemia: a Case Report

    Fanconi anemia (FA) is a rare genetic disorder with multisystem involvement. Confirmatory genetic testing is possible by diagnostic clues on examination of the proband within the differential diagnosis. We des...

    Reema Kumar Bhatt, Aradhana Dwivedi, Ratna Puri Dua… in Journal of Fetal Medicine (2021)

  5. No Access

    Article

    Stumped by Potassium: A Rare Case of Familial Pseudohyperkalemia

    Manas Ranjan Mishra, Suprita Kalra, Aradhana Dwivedi, Anurodh Gupta in Indian Pediatrics (2020)