Search Results - "Kabra, M"

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort by Sathya Priya, C., Sen, P., Umashankar, V., Gupta, N., Kabra, M., Kumaramanickavel, G., Stoetzel, C., Dollfus, H., Sripriya, S.

“…Bardet–Biedl syndrome (BBS), a ciliopathy disorder with pleiotropic effect manifests primarily as retinal degeneration along with renal insufficiency,…”
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EP10.30: A rare case of recurrent Escobar syndrome diagnosed on ultrasound by Agarwal, N., Lata, K., Kriplani, A., Kabra, M.

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Conventional vs virtual autopsy with postmortem MRI in phenotypic characterization of stillbirths and fetal malformations by Shruthi, M., Gupta, N., Jana, M., Mridha, A. R., Kumar, A., Agarwal, R., Sharma, R., Deka, D., Gupta, A. K., Kabra, M.

“…ABSTRACT Objective To compare virtual autopsy using postmortem magnetic resonance imaging (MRI) with conventional autopsy with respect to phenotypic…”
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Folic acid supplementation prevents phenytoin-induced gingival overgrowth in children by ARYA, R, GULATI, S, KABRA, M, SAHU, J. K, KALRA, V

“…Gingival overgrowth is an important adverse effect of phenytoin (PHT) therapy, occurring in about half of the patients. This study aimed to evaluate the effect…”
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Gene copy number alterations in Indian children with B-acute Lymphoblastic Leukemia: Correlation with survival outcome by Agarwal, M., Shukla, R., Dwivedi, S.N., Saxena, R., Luthra, K., Kabra, M., Seth, Rachna

“…Acute Lymphoblastic Leukemia (ALL) is the most common lymphoid malignancy occurring in children. Copy number alterations like CDKN2A/B, IKZF1, ETV6, RB1 and…”
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Improving the uptake of newborn screening for endocrinopathies and inborn errors of metabolism: A quality improvement initiative by Varghese, N, Joshi, P, Cecilia, M, Gupta, N, Agarwal, R, Kabra, M, Deorari, Ak

“…Newborn Screening (NBS) is a globally recognized essential, preventive public health program for identifying life threatening and debilitating conditions. This…”
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Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin by Sethuraman, G., Sreenivas, V., Yenamandra, V.K., Gupta, N., Sharma, V.K., Marwaha, R.K., Bhari, N., Irshad, M., Kabra, M., Thulkar, S.

“…Summary Background Patients with congenital ichthyosis, especially those with darker skin types, are at increased risk of developing vitamin D deficiency and…”
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Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome by Gupta, N., Shastri, S., Singh, P.K., Jana, M., Mridha, A., Verma, G., Kabra, M.

“…An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this…”
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Spectrum of sleep disordered breathing among patients with mucopolysaccharidoses: a clinico-polysomnographic study by Shukla, G, Gupta, A, Gupta, N, Kabra, M

“…Introduction Sleep disordered breathing (SDB) has been reported in approximately 80% patients with different types of Mucopolysaccharidoses (MPS), which is…”
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Prevalence of neonatal hypothyroidism in Kangra Valley, Himachal Pradesh by Kapil, U, Jain, V, Kabra, M, Pandey, R M, Sareen, N, Khenduja, P

“…Iodine deficiency (ID) is an endemic health problem in Kangra District, Himachal Pradesh (HP). ID in pregnant mothers leads to neonatal hypothyroidism (NH),…”
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Autosomal recessive epidermolysis bullosa simplex: report of three cases from India by Yenamandra, V. K., Shamsudheen, K. V., Madhumita, R. C., Rijith, J., Ankit, V., Scaria, V., Sridhar, S., Kabra, M., Sharma, V. K., Sethuraman, G.

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Vitamin D deficiency and rickets in children and adolescents with ichthyosiform erythroderma in type IV and V skin by Chouhan, K., Sethuraman, G., Gupta, N., Sharma, V.K., Kabra, M., Khaitan, B.K., Sreenivas, V, Ramam, M., Kusumakar, S., Thulkar, S., Paller, A.S.

“…Summary Background  Ichthyosiform erythroderma due to keratinizing disorders may suppress cutaneous vitamin D synthesis, leading to vitamin D deficiency and…”
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Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness by Park, H-J, Shaukat, S, Liu, X-Z, Hahn, S H, Naz, S, Ghosh, M, Kim, H-N, Moon, S-K, Abe, S, Tukamoto, K, Riazuddin, S, Kabra, M, Erdenetungalag, R, Radnaabazar, J, Khan, S, Pandya, A, Usami, S-I, Nance, W E, Wilcox, E R, Griffith, A J

“…Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and non-syndromic deafness in western populations. Although south and east Asia…”
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Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation by Bashyam, M.D., Chaudhary, A.K., Kiran, M., Reddy, V., Nagarajaram, H.A., Dalal, A., Bashyam, L., Suri, D., Gupta, A., Gupta, N., Kabra, M., Puri, R.D., RamaDevi, R., Kapoor, S., Danda, S.

“…Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. In the largest ever study, we…”
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888 MUTATION ANALYSIS OF NORTH INDIAN PEDIATRIC PATIENTS WITH WILSON DISEASE: 25 DIFFERENT MUTATIONS by Balakrishnan, P, Kabra, M, Kalra, V, Arora, N.K

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Arsenic induced apoptosis in rat liver following repeated 60 days exposure by Bashir, Somia, Sharma, Yukti, Irshad, M., Nag, T.C., Tiwari, Monica, Kabra, M., Dogra, T.D.

“…Accumulation of the wide spread environmental toxin arsenic in liver results in hepatotoxcity. Exposure to arsenite and other arsenicals has been previously…”
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Cystic fibrosis in India by Kabra, S.K., Kabra, M., Lodha, R., Shastri, S.

“…Cystic fibrosis (CF) was considered to be non‐existent in Indian subcontinent. Reports in last one decade have suggested that cystic fibrosis occurs in India…”
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Status of iodine deficiency in district Kangra, Himachal Pradesh after 60 years of salt iodization by Kapil, U, Pandey, R M, Kabra, M, Jain, V, Sareen, N, Bhadoria, A S, Vijay, J, Nigam, S, Khenduja, P

“…Background/Objectives: District Kangra, Himachal Pradesh(HP), India is a known endemic area for iodine deficiency disorders (IDD) since 1956. The present study…”
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Mutations of human TMHS cause recessively inherited non-syndromic hearing loss by Shabbir, M I, Ahmed, Z M, Khan, S Y, Riazuddin, Saima, Waryah, A M, Khan, S N, Camps, R D, Ghosh, M, Kabra, M, Belyantseva, I A, Friedman, T B, Riazuddin, Sheikh

“…Background: Approximately half the cases of prelingual hearing loss are caused by genetic factors. Identification of genes causing deafness is a crucial first…”
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A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India by Bashyam, M.D., Chaudhary, A.K., Reddy, E.C., Reddy, V., Acharya, V., Nagarajaram, H.A., Devi, A.R.R., Bashyam, L., Dalal, A.B., Gupta, N., Kabra, M., Agarwal, M., Phadke, S.R., Tainwala, R., Kumar, R., Hariharan, S.V.

“…Summary Background  Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare Mendelian disorder affecting ectodermal tissues. The disease is primarily…”
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