16 Result(s)
within
Shubha Phadke
English
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Article
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease
To report genotype data of the patients with Wilson disease (WD) hailing from across several parts of India to add to the available spectrum of causative variants in ATP7B gene (ATPase copper transporting beta po...
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Article
Open AccessVon 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...
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Article
Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia
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Open AccessGaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undeg...
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Open AccessBiochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India
Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. A beta-Glucosidase (GBA) gene defect results in g...
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Chapter
Rheumatic Manifestations of Genetic Disorders and Hemophilia
To learn about common genetic diseases that present with rheumatic manifestations
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Article
Erratum to: Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India
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Article
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India
To assess feasibility and recall rates for newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in a predominantly rural and inner city population in and around the City of ...
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Article
De novo SOX11 mutations cause Coffin–Siris syndrome
Coffin–Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or ...
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Article
Open AccessCytogenetic microarray in prenatal and postnatal diagnosis
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Open AccessOxidant–antioxidant imbalance in the serum of Myotonic Dystrophy type 1 (DM1) patients correlates with the progression of disease
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Open AccessSTR Markers in clinics: a rapid prenatal diagnosis by quantitative fluorescent-pcr for aneuploidies
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Article
Genetic testing in children
Increasing availability of DNA based tests in clinical practice has lead to widespread debate on the ethical issues involved. The wider usage of these tests in children has raised many questions regarding the ...
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Article
Syndromic versus nonsyndromic atlantoaxial dislocation: do clinico-radiological differences have a bearing on management?
This prospective study attempts to study the clinico-radiological differences between patients with syndromic AAD (SAAD), non-syndromic AAD (NSAAD), and AAD with Klippel–Feil anomaly (AADKFA) that may impact m...
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Article
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlap**, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa ...
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Article
Hemophilia Care in India: A Review and Experience from a Tertiary Care Centre in Uttar Pradesh
Approximately 14,000 people with hemophilia are registered at the Hemophilia Federation of India; however, hemophilia remains under-diagnosed and many cases are not registered. In June 2009, the Government of ...
