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SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.
Published in:
2020
By:
- Ceylan, Ahmet Cevdet;
- Erdem, Haktan Bağış;
- Şahin, İbrahim;
- Agarwal, Meenal
Publication type:
journal article
Anesthetic concern during cesarean delivery in patient with ruptured cerebral arteriovenous malformation.
Published in:
Indian Anaesthetists' Forum, 2016, v. 17, n. 1, p. 25, doi. 10.4103/0973-0311.183571
By:
- Karnawat, Rakesh;
- Mohammed, Sadik;
- Gupta, Snehil;
- Paliwal, Naveen;
- Agarwal, Meenal
Publication type:
Article
Correspondence.
Published in:
Indian Pediatrics, 2019, v. 56, n. 1, p. 76, doi. 10.1007/s13312-019-1475-9
By:
- Dayal, Devi;
- Agarwal, Meenal;
- Adhisivam, B.;
- Venkatesh, C.;
- Soni, Vimlesh;
- Srivastav, Prateek;
- Vaishali, K. H.;
- Sachdeva, Sakshi;
- Thakre, Rhishikesh;
- Patil, P. S.
Publication type:
Article
Multicenter program for newborn screening for congenital hypothyroidism - Experience with cord blood versus postnatal heel prick.
Published in:
Indian Journal of Endocrinology & Metabolism, 2013, v. 17, n. S1, p. S380
By:
- Gopalakrishnan, Vignesh;
- Joshi, Kriti;
- Bhatia, Vijayalakshmi;
- Phadke, Shubha;
- Dabadghao, Preeti;
- Das, Vinita;
- Cynthia, M.;
- Agarwal, Meenal;
- Pandey, Amita;
- Tiwari, Pallavi
Publication type:
Article
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 410, doi. 10.1002/ajmg.a.37447
By:
- Bhavani, Gandham SriLakshmi;
- Shah, Hitesh;
- Shukla, Anju;
- Gupta, Neerja;
- Gowrishankar, Kalpana;
- Rao, Anand P.;
- Kabra, Madhulika;
- Agarwal, Meenal;
- Ranganath, Prajnya;
- Ekbote, Alka V.;
- Phadke, Shubha R.;
- Kamath, Asha;
- Dalal, Ashwin;
- Girisha, Katta Mohan
Publication type:
Article
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2793, doi. 10.1002/ajmg.a.36735
By:
- Bidchol, Abdul Mueed;
- Dalal, Ashwin;
- Shah, Hitesh;
- S, Suryanarayana;
- Nampoothiri, Sheela;
- Kabra, Madhulika;
- Gupta, Neerja;
- Danda, Sumita;
- Gowrishankar, Kalpana;
- Phadke, Shubha R.;
- Kapoor, Seema;
- Kamate, Mahesh;
- Verma, I.C.;
- Puri, Ratna Dua;
- Sankar, V.H.;
- Devi, A. Radha Rama;
- Patil, S.J.;
- Ranganath, Prajnya;
- Jain, S. Jamal Md Nurul;
- Agarwal, Meenal
Publication type:
Article
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 186, doi. 10.1002/ajmg.a.36198
By:
- Gupta, Rekha;
- Agarwal, Meenal;
- Boqqula, Vijay R.;
- Phadke, Rajendra V.;
- Phadke, Shubha R.
Publication type:
Article
Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2788, doi. 10.1002/ajmg.a.34234
By:
- Ranganath, Prajnya;
- Agarwal, Meenal;
- Phadke, Shubha R.
Publication type:
Article
Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.
Published in:
Indian Journal of Nephrology, 2021, v. 31, n. 2, p. 182, doi. 10.4103/ijn.IJN_336_19
By:
- Sharma, Jyoti;
- Lobo, Valentine;
- Singhal, Jyoti;
- Anand, Siddharth;
- Kadam, Sandeep;
- Ranade, Shatakshi;
- Gangodkar, Priyanka;
- Ganesan, Karthik;
- Phadke, Nikhil;
- Agarwal, Meenal
Publication type:
Article
Atypical HUS associated With CFH/CFHR-1 hybrid gene.
Published in:
Indian Journal of Nephrology, 2020, v. 30, n. 5, p. 342, doi. 10.4103/ijn.IJN_337_19
By:
- Negi, Sharon;
- Chakurkar, Vipul;
- Agarwal, Meenal;
- Lobo, Valentine
Publication type:
Article
New insights from the genetic work-up in early onset nephrotic syndrome: report from a registry in western India.
Published in:
Pediatric Nephrology, 2024, v. 39, n. 7, p. 2099, doi. 10.1007/s00467-024-06295-8
By:
- Sharma, Jyoti;
- Saha, Anshuman;
- Ohri, Alpana;
- More, Vaishali;
- Shah, Fagun;
- Dave, Jalpa;
- Jain, Brinda Panchal;
- Matnani, Manoj;
- Sathe, K.;
- Bhansali, Pankaj;
- Chhajed, Puneet;
- Deore, Pawan;
- Pande, Nivedita;
- Shah, Chintan;
- Kinnari, Vala;
- Singhal, Jyoti;
- Krishnamurthy, Nisha;
- Agarwal, Meenal;
- Ali, Uma
Publication type:
Article
Erratum to: Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Published in:
Indian Pediatrics, 2015, v. 52, n. 1, p. 70, doi. 10.1007/s13312-015-0578-1
By:
- Gopalakrishnan, Vignesh;
- Joshi, Kriti;
- Phadke, Shubha;
- Dabadghao, Preeti;
- Agarwal, Meenal;
- Das, Vinita;
- Jain, Suruchi;
- Gambhir, Sanjay;
- Gupta, Bhaskar;
- Pandey, Amita;
- Kapoor, Deepa;
- Kumar, Mala;
- Bhatia, Vijayalakshmi
Publication type:
Article
Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India.
Published in:
Indian Pediatrics, 2014, v. 51, n. 9, p. 701, doi. 10.1007/s13312-014-0485-x
By:
- Gopalakrishnan, Vignesh;
- Joshi, Kriti;
- Phadke, Shubha;
- Dabadghao, Preeti;
- Agarwal, Meenal;
- Das, Vinita;
- Jain, Suruchi;
- Gambhir, Sanjay;
- Gupta, Bhaskar;
- Pandey, Amita;
- Kapoor, Deepa;
- Kumar, Mala;
- Bhatia, Vijayalakshmi
Publication type:
Article
High prevalence of CFHR deletions in Indian women with pregnancy‐associated hemolytic uremic syndrome.
Published in:
Nephrology, 2022, v. 27, n. 3, p. 231, doi. 10.1111/nep.14004
By:
- Kandari, Sharon;
- Chakurkar, Vipul;
- Gaikwad, Snehal;
- Agarwal, Meenal;
- Phadke, Nikhil;
- Lobo, Valentine
Publication type:
Article
Comparison of Tramadol and Dexmeditomidine for the Control of Intraoperative Shivering under Spinal Anaesthesia: A Prospective, Randomized Clinical Trial.
Published in:
International Medical Journal, 2023, v. 30, n. 4, p. 207
By:
- Peerapur, Pooja Basavaraj;
- Agarwal, Meenal;
- Sultana, Syeda Shahver;
- Pathan, Rizwana B.;
- TN, Harshith;
- CS, Niranjan;
- Patil, Santosh R.;
- Alam, Mohammad Khursheed
Publication type:
Article
Second trimester screening for fetal aneuploidy through triple marker test: the two-year experience of the Genetics unit of a referral institute.
Published in:
Perinatology: Journal of Perinatal & Neonatal Care, 2008, v. 10, n. 6, p. 149
By:
- Ranganath, Prajnya;
- Agarwal, Meenal;
- Phadke, Shubha R.
Publication type:
Article
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
Published in:
Endocrine (1355008X), 2021, v. 71, n. 1, p. 189, doi. 10.1007/s12020-020-02494-z
By:
- Gangodkar, Priyanka;
- Khadilkar, Vaman;
- Raghupathy, P.;
- Kumar, Rakesh;
- Dayal, Archana Arya;
- Dayal, Devi;
- Ayyavoo, Ahila;
- Godbole, Tushar;
- Jahagirdar, Rahul;
- Bhat, Kavitha;
- Gupta, Neerja;
- Kamalanathan, Sadishkumar;
- Jagadeesh, Sujatha;
- Ranade, Shatakshi;
- Lohiya, Nikhil;
- Oke, Rashmi Lote;
- Ganesan, Karthik;
- Khatod, Kavita;
- Agarwal, Meenal;
- Phadke, Nikhil
Publication type:
Article
A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.
Published in:
2020
By:
- Khadilkar, Vaman;
- Gogate, Nikhita;
- Gangodkar, Priyanka;
- Ranade, Shatakshi;
- Lohiya, Nikhil;
- Ragte, Trupti;
- Patil, Kunal;
- Pilankar, Asawari;
- Anand, Siddharth;
- Bapat, Ashwini;
- Agarwal, Meenal;
- Kaushik, Karishma;
- Lote-Oke, Rashmi;
- Khadilkar, Anuradha;
- Phadke, Nikhil
Publication type:
journal article
Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners.
Published in:
Prenatal Diagnosis, 2011, v. 31, n. 13, p. 1286, doi. 10.1002/pd.2887
By:
- Phadke, Shubha R.;
- Agarwal, Meenal;
- Aggarwal, Shagun
Publication type:
Article
Use of two complementary new molecular techniques, next‐generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report.
Published in:
Haemophilia, 2018, v. 24, n. 6, p. e425, doi. 10.1111/hae.13613
By:
- Gangodkar, Priyanka;
- Ranade, Shatakshi;
- Anand, Siddharth;
- Bapat, Ashwini;
- Khatod, Kavita;
- Shah, Parth;
- Agarwal, Meenal;
- Phadke, Nikhil
Publication type:
Article
Recurrent Pregnancy Loss and Apolipoprotein E Gene Polymorphisms: A Case–Control Study from North India.
Published in:
American Journal of Reproductive Immunology, 2010, v. 64, n. 3, p. 172, doi. 10.1111/j.1600-0897.2010.00884.x
By:
- Agarwal, Meenal;
- Parveen, Farah;
- Faridi, Rehan Mujeeb;
- Phadke, Shubha R.;
- Das, Vinita;
- Agrawal, Suraksha
Publication type:
Article
Genetic Analysis and Clinical Presentation in Silver Russell Syndrome.
Published in:
2018
By:
- Lohiya, Nikhil;
- Lote-Oke, Rashmi;
- Agarwal, Meenal;
- Phadke, Nikhil;
- Khadilkar, Vaman;
- Khadilkar, Anuradha
Publication type:
Case Study
Knowledge of Cord Blood Banking in General Population and Doctors: A Questionnaire Based Survey.
Published in:
2016
By:
- Tuteja, Moni;
- Agarwal, Meenal;
- Phadke, Shubha;
- Phadke, Shubha R
Publication type:
journal article
Feasibility Study of an Outreach Program of Newborn Screening in Uttar Pradesh.
Published in:
Indian Journal of Pediatrics, 2015, v. 82, n. 5, p. 427, doi. 10.1007/s12098-014-1557-6
By:
- Agarwal, Meenal;
- Joshi, Kriti;
- Bhatia, Vijayalakshmi;
- Gopalakrishnan, Vignesh;
- Dabadghao, Preeti;
- Das, Vinita;
- Pandey, Amita;
- Kumar, Mala;
- Phadke, Shubha
Publication type:
Article
Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation.
Published in:
Indian Journal of Medical Research, 2017, v. 145, n. 4, p. 471, doi. 10.4103/ijmr.IJMR_1882_14
By:
- Siddesh, Anjurani;
- Gupta, Geetika;
- Sharan, Ram;
- Agarwal, Meenal;
- Phadke, Shubha R.
Publication type:
Article
Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability.
Published in:
Indian Journal of Medical Research, 2015, v. 142, n. 6, p. 699, doi. 10.4103/0971-5916.174561
By:
- Boggula, Vijay Raju;
- Agarwal, Meenal;
- Kumar, Rashmi;
- Awasthi, Shally;
- Phadke, Shubha R.
Publication type:
Article

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