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1

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

Bijarnia-Mahay, Sunita, Häberle, Johannes, Jalan, Anil B., Puri, Ratna Dua, Kohli, Sudha, Kudalkar, Ketki, Rüfenacht, Véronique, Gupta, Deepti, Maurya, Deepshikha, Verma, Jyotsna, Shigematsu, Yosuke,

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 772 KB

english, 2018

2

The most potent antilithiatic agent ameliorating renal dysfunction and oxidative stress from Bergenia ligulata rhizome

Aggarwal, Deepika, Kaushal, Rajeev, Kaur, Tanzeer, Bijarnia, Rakesh Kumar, Puri, Sanjeev, Singla, Surinder Kumar

Journal:

Journal of Ethnopharmacology

Year:

2014

Language:

english

File:

PDF, 1.59 MB

english, 2014

3

Propagation of plane waves in an isotropic two-temperature thermoelastic solid half-space with diffusion

Bijarnia, Rupender, Singh, Baljeet

Journal:

Annals of Solid and Structural Mechanics

Year:

2014

Language:

english

File:

PDF, 641 KB

english, 2014

4

Propagation of plane waves in anisotropic two temperature generalized thermoelasticity

Singh, B., Bijarnia, R.

Journal:

Mathematics and Mechanics of Solids

Year:

2012

Language:

english

File:

PDF, 368 KB

english, 2012

5

The Burden of Genetic Disorders in India and a Framework for Community Control

Verma, I.C., Bijarnia, S.

Journal:

Community Genetics

Year:

2002

Language:

english

File:

PDF, 51 KB

english, 2002

6

Propagation of plane waves in an anisotropic generalized thermoelastic solid with diffusion

Rupender Bijarnia, Baljeet Singh

Journal:

Journal of Engineering Physics and Thermophysics

Year:

2012

Language:

english

File:

PDF, 259 KB

english, 2012

7

Mutagenicity assessment of effluents from textile/dye industries of Sanganer, Jaipur (India): a case study

Nupur Mathur, Pradeep Bhatnagar, Pankaj Nagar, Mahendra Kumar Bijarnia

Journal:

Ecotoxicology and Environmental Safety

Year:

2005

Language:

english

File:

PDF, 474 KB

english, 2005

8

In vivo efficacy of Trachyspermum ammi anticalcifying protein in urolithiatic rat model

Tanzeer Kaur, Rakesh K. Bijarnia, Surinder K. Singla, Chanderdeep Tandon

Journal:

Journal of Ethnopharmacology

Year:

2009

Language:

english

File:

PDF, 447 KB

english, 2009

9

Effect of concurrent chronic exposure of fluoride and aluminum on rat brain

Kaur, Tanzeer, Bijarnia, Rakesh K., Nehru, Bimla

Journal:

Drug and Chemical Toxicology

Year:

2009

Language:

english

File:

PDF, 966 KB

english, 2009

10

Protein Kinase C Inhibitor Sotrastaurin in De Novo Liver Transplant Recipients: A Randomized Phase II Trial

Pascher, A., De Simone, P., Pratschke, J., Salamé, E., Pirenne, J., Isoneimi, H., Bijarnia, M., Krishnan, I., Klupp, J.

Journal:

American Journal of Transplantation

Year:

2015

Language:

english

File:

PDF, 501 KB

english, 2015

11

Primary Carnitine Deficiency – A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly

Deswal, Shivani, Bijarnia-Mahay, Sunita, Manocha, Vinamr, Hara, Keiichi, Shigematsu, Yosuke, Saxena, Renu, Verma, Ishwar C.

Journal:

Indian Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 380 KB

english, 2017

12

[IEEE 2017 13th International Conference on Signal-Image Technology & Internet-Based Systems (SITIS) - Jaipur, India (2017.12.4-2017.12.7)] 2017 13th International Conference on Signal-Image Technology & Internet-Based Systems (SITIS) - Pyramid Binary Pattern for Age Invariant Face Verification

Bijarnia, Saroj, Singh, Preety

Year:

2017

Language:

english

File:

PDF, 241 KB

english, 2017

13

Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K)

Bhai, Pratibha, Bijarnia-Mahay, Sunita, Puri, Ratna D., Saxena, Renu, Gupta, Deepti, Kotecha, Udhaya, Sachdev, Anil, Gupta, Dhiren, Vyas, Vyomesh, Agarwal, Divya, Jain, Vivek, Bansal, Rajeev K., Kumar

Journal:

Annals of Human Genetics

Year:

2018

Language:

english

File:

PDF, 535 KB

english, 2018

14

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Shibata, Naoaki, Hasegawa, Yuki, Yamada, Kenji, Kobayashi, Hironori, Purevsuren, Jamiyan, Yang, Yanling, Dung, Vu Chi, Khanh, Nguyen Ngoc, Verma, Ishwar C., Bijarnia-Mahay, Sunita, Lee, Dong Hwan, Niu

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 233 KB

english, 2018

15

Inborn Errors of Metabolism in India- Where We are At!

Bijarnia-Mahay, Sunita, Verma, Ishwar C.

Journal:

Indian Journal of Pediatrics

Year:

2019

Language:

english

File:

PDF, 119 KB

english, 2019

16

Testing Modalities for Inborn Errors of Metabolism — What a Clinician Needs to Know?

Bijarnia-Mahay, Sunita, Kapoor, Seema

Journal:

Indian Pediatrics

Year:

2019

Language:

english

File:

PDF, 519 KB

english, 2019

17

Genetic comparison among various coronavirus strains for the identification of potential vaccine targets of SARS-CoV2

Kaur, Navpreet, Singh, Rimaljot, Dar, Zahid, Bijarnia, Rakesh Kumar, Dhingra, Neelima, Kaur, Tanzeer

Journal:

Infection, Genetics and Evolution

Year:

2020

File:

PDF, 11.28 MB

2020

18

Genetic counseling and prenatal diagnosis in India — experience at Sir Ganga Ram Hospital

I. C. Verma, Renu Saxena, Meena Lall, Sunita Bijarnia, Rajesh Sharma

Journal:

Indian Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 526 KB

english, 2003

19

Triple A syndrome — diagnostic and management issues

Sunita Bijarnia, I. C. Venna

Journal:

Indian Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 234 KB

english, 2003

20

Genetic counseling in acrocallosal syndrome

Sunita Bijarnia, Ashok Baijal1, I. C. Verma

Journal:

Indian Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 1.01 MB

english, 2003

21

Tyrosinemia type I—Diagnostic issues and prenatal diagnosis

Sunita Bijarnia, Ratna D. Puri, Jean Ruel, George F. Gray, Linda Jenkinson, Ishwar C. Verma

Journal:

Indian Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 258 KB

english, 2006

22

Glutaric aciduria type I: outcome following detection by newborn screening

S. Bijarnia, V. Wiley, K. Carpenter, J. Christodoulou, C. J. Ellaway, B. Wilcken

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 231 KB

english, 2008

23

Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test

Sunita Bijarnia, Bridget Wilcken, Veronica C. Wiley

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 170 KB

english, 2011

24

A Novel Calcium Oxalate Crystal Growth Inhibitory Protein from the Seeds ofDolichos biflorus(L.)

Rakesh K. Bijarnia, Tanzeer Kaur, Surinder K. Singla, Chanderdeep Tandon

Journal:

The Protein Journal

Year:

2009

Language:

english

File:

PDF, 323 KB

english, 2009

25

Mutation studies in X-linked myotubular myopathy in three Indian families

Sunita Bijarnia, Ratna D. Puri, Monika Jain, Neelam Kler, Subimal Roy, J. Andoni Urtizberea, Valerie Biancalana, I. C. Verma

Journal:

Indian Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 166 KB

english, 2010

26

Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome

Sunita Bijarnia, Peter Shaw, Anne Vimpani, Robert Smith, Verity Pacey, Helen O'Grady, John Christodoulou, David Sillence

Journal:

Journal of Paediatrics and Child Health

Year:

2009

Language:

english

File:

PDF, 220 KB

english, 2009

27

Inborn Errors of Metabolism in the Neonatal Period – Is it Time to Change our Practice?

I. C. Verma, Sunita Bijarnia

Journal:

Indian Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 72 KB

english, 2012

28

Power relations and institutional outcomes: A case of pastureland development in Semi-arid Rajasthan

Sunil Ray, Mahendra Bijarnia

Journal:

Ecological Economics

Year:

2007

Language:

english

File:

PDF, 353 KB

english, 2007

29

Aliskiren Alone or in Combination With Hydrochlorothiazide in Patients With the Lower Ranges of Stage 2 Hypertension: The ACQUIRE Randomized Double-Blind Study

Henry R. Black, Andreas Kribben, Fernando Aguirre Palacios, Mahendra Bijarnia, Annik K. Laflamme, Fabio Baschiera

Journal:

Journal of Clinical Hypertension

Year:

2010

Language:

english

File:

PDF, 436 KB

english, 2010

30

Mutagenicity evaluation of industrial sludge from common effluent treatment plant

Nupur Mathur, Pradeep Bhatnagar, Krishna Mohan, Prakash Bakre, Pankaj Nagar, Mahendra Bijarnia

Journal:

Year:

2007

Language:

english

File:

PDF, 410 KB

english, 2007

31

Modulatory effects of N-acetylcysteine on hyperoxaluric manifestations in rat kidney

Rakesh K. Bijarnia, Tanzeer Kaur, Kanika Aggarwal, S.K. Singla, Chanderdeep Tandon

Journal:

Food and Chemical Toxicology

Year:

2008

Language:

english

File:

PDF, 458 KB

english, 2008

32

Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent

Sunita Bijarnia, Sudha Kohli, Ratna Dua Puri, Rintu J. Jacob, Renu Saxena, Anil Jalan, Eric A. Sistermans, Saqib Mahmood, Ishwar Chander Verma

Journal:

Indian Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 477 KB

english, 2013

33

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia

Sambuughin, Nyamkhishig, Liu, Xinyue, Bijarnia, Sunita, Wallace, Tarina, Verma, Ishwar C, Hamilton, Susan, Muldoon, Sheila, Tallon, Luke J, Wang, Shuishu

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 413 KB

english, 2013

34

Assessment of cardiac safety during fingolimod treatment initiation in a real-world relapsing multiple sclerosis population: a phase 3b, open-label study

Gold, Ralf, Comi, Giancarlo, Palace, Jacqueline, Siever, Arno, Gottschalk, Rebecca, Bijarnia, Mahendra, Rosenstiel, Philipp, Tomic, Davorka, Kappos, Ludwig

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 420 KB

english, 2014

35

Fanconi-Bickel Syndrome - Mutation inSLC2A2Gene

Kehar, Mohit, Bijarnia, Sunita, Ellard, Sian, Houghton, Jayne, Saxena, Renu, Verma, I. C., Wadhwa, Nishant

Journal:

Indian Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 389 KB

english, 2014

36

Mutation Analysis of the CFTR Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations

Sachdeva, Kabir, Saxena, Renu, Puri, Ratna, Bijarnia, Sunita, Kohli, Sudha, Verma, Ishwar Chander

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2012

Language:

english

File:

PDF, 94 KB

english, 2012

37

Mitochondrial DNA depletion syndrome causing liver failure

Sunita Bijarnia-Mahay,Neelam Mohan,Deepak Goyal,I. C. Verma…

Journal:

Indian Pediatrics

Year:

2014

Language:

english

File:

PDF, 410 KB

english, 2014

38

Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing

Goyal, Manisha, Bijarnia-Mahay, Sunita, Kingsmore, Stephen, Farrow, Emily, Saunders, Carol, Saxena, Renu, Verma, Ishwar C.

Journal:

Indian Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 451 KB

english, 2015

39

Newborn Screening: Need of the Hour in India

Verma, Ishwar C., Bijarnia-Mahay, Sunita, Jhingan, Geetu, Verma, Jyotsna

Journal:

Indian Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

40

Randomized trial of vaccination in fingolimod-treated patients with multiple sclerosis

Kappos, L., Mehling, M., Arroyo, R., Izquierdo, G., Selmaj, K., Curovic-Perisic, V., Keil, A., Bijarnia, M., Singh, A., von Rosenstiel, P.

Journal:

Year:

2015

Language:

english

File:

PDF, 499 KB

english, 2015

41

Using Noninvasive Prenatal Testing for Aneuploidies in a Developing Country: Lessons Learnt

Dash, Pratima, Puri, Ratna D., Kotecha, Udhaya, Bijarnia, Sunita, Lall, Meena, Verma, Ishwar C.

Journal:

Journal of Fetal Medicine

Year:

2014

Language:

english

File:

PDF, 241 KB

english, 2014

42

Need for Fetal Autopsy and Genetic Diagnosis in Fetal Limb Anomalies

Kotecha, Udhaya H., Puri, Ratna D., Dash, Pratima, Bijarnia-Mahay, Sunita, Lall, Meena, Verma, Ishwar C.

Journal:

Journal of Fetal Medicine

Year:

2014

Language:

english

File:

PDF, 293 KB

english, 2014

43

Oxalate-mediated oxidant-antioxidant imbalance in erythrocytes: role of N-acetylcysteine

Bijarnia, R., Kaur, T, Singla, S., Tandon, C

Journal:

Human & Experimental Toxicology

Year:

2009

Language:

english

File:

PDF, 150 KB

english, 2009

44

Citrin deficiency: A treatable cause of acute psychosis in adults

Bijarnia-Mahay, Sunita, Häberle, Johannes, Rüfenacht, Véronique, Shigematsu, Yosuke, Saxena, Renu, Verma, IshwarC

Journal:

Neurology India

Year:

2015

Language:

english

File:

PDF, 704 KB

english, 2015

45

Reversal of Hyperoxaluria-Induced Alteration in Rat Liver by Administration of N -Acetylcysteine

Bijarnia, R. K., Kaur, T., Singla, S. K., Tandon, C.

Journal:

Drug and Chemical Toxicology

Year:

2007

Language:

english

File:

PDF, 449 KB

english, 2007

46

Identification of Mutations, Genotype-Phenotype Correlation and Prenatal Diagnosis of Maple Syrup Urine Disease in Indian patients

Gupta, Deepti, Bijarnia-Mahay, Sunita, Saxena, Renu, Kohli, Sudha, Dua-Puri, Ratna, Verma, Jyotsna, Thomas, E., Shigematsu, Yosuke, Yamaguchi, Seiji, Deb, Roumi, Verma, Ishwar Chander

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.35 MB

english, 2015

47

Outcome of Prenatally-Detected Fetal Ventriculomegaly

Bijarnia-Mahay, Sunita, Puri, Ratna D., Kotecha, Udhaya, Dash, Pratima, Pal, Swasti, Lall, Meena, Mahajan, Surbhi, Saviour, Pushpa, Paliwal, Preeti, Baijal, Ashok, Dimri, Nandita, Sharma, Nidhish, Ver

Journal:

Journal of Fetal Medicine

Year:

2015

Language:

english

File:

PDF, 636 KB

english, 2015

48

Absent/Hypoplastic Fetal Nasal Bone and Its Association with Aneuploidies

Dash, Pratima, Puri, Ratna Dua, Goyal, Manisha, Bijarnia, Sunita, Lall, Meena, Kotecha, Udhaya, Verma, Ishwar Chander

Journal:

Journal of Fetal Medicine

Year:

2015

Language:

english

File:

PDF, 417 KB

english, 2015

49

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes

Gupta, Deepti, Bijarnia-Mahay, Sunita, Kohli, Sudha, Saxena, Renu, Puri, Ratna Dua, Shigematsu, Yosuke, Yamaguchi, Seiji, Sakamoto, Osamu, Gupta, Neerja, Kabra, Madhulika, Thakur, Seema, Deb, Roumi, V

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2016

Language:

english

File:

PDF, 313 KB

english, 2016

50

Purification and Characterization of an Anticalcifying Protein from the Seeds of Trachyspermum ammi (L.)

Kaur, Tanzeer, Bijarnia, Rakesh, Singla, Surinder, Tandon, Chanderdeep

Journal:

Protein & Peptide Letters

Year:

2009

Language:

english

File:

PDF, 445 KB

english, 2009