Ratna Dua Puri: search on Z-Library

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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

Genetic Approach to Diagnosis of Intellectual Disability

Puri, Ratna Dua, Tuteja, Moni, Verma, I. C.

Journal:

Indian Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 393 KB

english, 2016

3

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

Puri, Ratna Dua, Kapoor, Seema, Kishnani, Priya S., Dalal, Ashwin, Gupta, Neerja, Muranjan, Mamta, Phadke, Shubha R., Sachdeva, Anupam, Verma, Ishwar C., Mistry, Pramod K.

Journal:

Indian Pediatrics

Year:

2018

Language:

english

File:

PDF, 529 KB

english, 2018

4

Recurrence of complex camptopolydactyly in a sibling suggestive of autosomal recessive mode of inheritance

Shubha R. Phadke, Savita Agarwal, Ratna Dua Puri

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 93 KB

english, 2003

5

Dysmorphology diagnosis

Ratna Dua Puri, I. C. Verma

Journal:

Indian Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 3.37 MB

english, 2004

6

Genetic counseling: The impact in Indian milieu

Shubha R. Phadke, Amita Pandey, Ratna Dua Puri, S. J. Patil

Journal:

Indian Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 418 KB

english, 2004

7

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

8

Survival Analysis of Down Syndrome Cohort in a Tertiary Health Care Center in India

Risha Nahar, Udhaya Kotecha, Ratna Dua Puri…

Journal:

Indian Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 158 KB

english, 2013

9

Variability in CYP2C9 allele frequency: A pilot study of its predicted impact on warfarin response among healthy South and North Indians

Nahar, Risha, Deb, Roumi, Saxena, Renu, Puri, Ratna Dua, Verma, Ishwar Chander

Journal:

Pharmacological Reports

Year:

2013

Language:

english

File:

PDF, 223 KB

english, 2013

10

Down Syndrome in India—Diagnosis, Screening, and Prenatal Diagnosis

Verma, Ishwar C., Lall, Meena, Dua Puri, Ratna

Journal:

Clinics in Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 411 KB

english, 2012

11

Prenatal diagnosis in India is not limited to sex selection

Dalal, Ashwin B., Ranganath, Prajnya, Phadke, Shubha R., Kabra, Madhulika, Danda, Sumita, Puri, Ratna Dua, V.H., Sankar, Gupta, Neerja, Patil, S.J., Mandal, Kausik, Tamhankar, Parag, Aggarwal, Shagun,

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 311 KB

english, 2015

12

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

13

Fetal Dysmorphology

Puri, Ratna Dua

Journal:

Journal of Fetal Medicine

Year:

2015

Language:

english

File:

PDF, 2.06 MB

english, 2015

14

Next Generation Sequencing in the Clinic

Dua Puri, Ratna

Journal:

Indian Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 198 KB

english, 2016

15

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

16

Catel???Manzke syndrome without cleft palate: a case report

Puri, Ratna Dua, Phadke, Shubha R.

Journal:

Clinical Dysmorphology

Year:

2003

Language:

english

File:

PDF, 145 KB

english, 2003

17

Further delineation of mandibulofacial dysostosis: Toriello type

Puri, Ratna Dua, Phadke, Shubha R.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 141 KB

english, 2002

18

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

19

Is the diagnostic yield influenced by the indication for fetal autopsy?

Puri, Ratna Dua, Kotecha, Udhaya, Lall, Meena, Dash, Pratima, Bijarnia-Mahay, Sunita, Verma, Ishwar Chander

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 263 KB

english, 2016

20

Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest

Dua, Vikas, Yadav, Satya P., Kumar, Vijay, Khan, Afaq Ahmed, Puri, Ratna, Verma, Ishwar C., Flanagan, Sarah E., Ellard, Sian, Sachdeva, Anupam

Journal:

Pediatric Blood & Cancer

Year:

2013

Language:

english

File:

PDF, 1.93 MB

english, 2013

21

Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease

Ranganath, Prajnya, Matta, Divya, Bhavani, Gandham SriLakshmi, Wangnekar, Savita, Jain, Jamal Mohammed Nurul, Verma, Ishwar C., Kabra, Madhulika, Puri, Ratna Dua, Danda, Sumita, Gupta, Neerja, Girisha

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 2.19 MB

english, 2016

22

Erratum to: Genetic Approach to Diagnosis of Intellectual Disability

Puri, Ratna Dua, Tuteja, Moni, Verma, I. C.

Journal:

Indian Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 193 KB

english, 2017

23

Hotspots in PTPN11 gene among Indian children with Noonan syndrome

Narayanan, Dhanya Lakshmi, Pandey, Himani, Moirangthem, Amita, Mandal, Kausik, Gupta, Rekha, Puri, Ratna Dua, Patil, S. J., Phadke, Shubha R.

Journal:

Indian Pediatrics

Year:

2017

Language:

english

File:

PDF, 460 KB

english, 2017

24

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases

Singh, Kanika, Puri, Ratna Dua, Bhai, Pratibha, Arya, Archana Dayal, Chawla, Garima, Saxena, Renu, Verma, Ishwar C.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.04 MB

english, 2018

25

ALG9 Associated Gillessen-Kaesbach–Nishimura Syndrome (GIKANIS): An Uncommon Aetiology of Enlarged Foetal Kidneys

Arora, Veronica, Shah, Nupur, Khatter, Sangeeta, Puri, Ratna Dua, Kumar, Reema, Gupta, Pallav, Bijarnia-Mahay, Sunita, Verma, Ishwar Chander

Journal:

Journal of Fetal Medicine

Year:

2018

Language:

english

File:

PDF, 618 KB

english, 2018

26

Fetal valproate syndrome as a phenocopy of Kleefstra syndrome

Arora, Veronica, Joshi, Anju, Lall, Meena, Agarwal, Shruti, Bijarnia Mahay, Sunita, Dua puri, Ratna, Chander Verma, Ishwar

Journal:

Birth Defects Research

Year:

2018

Language:

english

File:

PDF, 805 KB

english, 2018

27

Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation

Khatter, Sangeeta, Puri, Ratna Dua, Bijarnia-Mahay, Sunita, Aggarwal, Mridul, Ramprasad, V.L., Saxena, Renu, Verma, Ishwar C.

Journal:

Translational Science of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 344 KB

english, 2017

28

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome

Arora, Veronica, Aggarwal, Shruti, Bijarnia, Sunita, Lall, Meena, Joshi, Anju, Dua-Puri, Ratna, Arora, Umang, Verma, Ishwar

Journal:

Molecular Syndromology

Year:

2018

Language:

english

File:

PDF, 740 KB

english, 2018

29

The changing scenario in prenatal diagnosis of genetic disorders: Genetics to genomics

Bijarnia-Mahay, Sunita, Arora, Veronica, Puri, Ratna Dua, Lall, Meena, Saxena, Renu, Verma, Jyotsna, Baijal, Ashok, Dimri, Nandita, Sharma, Nidhish, Kohli, Sudha, Dubey, Sudhisha, Gupta, Deepti, Savio

Journal:

Current Medicine Research and Practice

Year:

2018

Language:

english

File:

PDF, 482 KB

english, 2018

30

Antenatal Presentation of TMEM5 Gene-Associated Congenital Muscular Dystrophy Expanding the Phenotypic and Genotypic Spectrum

Arora, Veronica, Puri, Ratna-Dua, Bijarnia-Mahay, Sunita, Verma, I. C.

Journal:

Journal of Fetal Medicine

Year:

2019

Language:

english

File:

PDF, 426 KB

english, 2019

31

Is Molecular Diagnosis Necessary for Children with Duchenne Muscular Dystrophy?

Puri, Ratna Dua

Journal:

Indian Pediatrics

Year:

2019

Language:

english

File:

PDF, 317 KB

english, 2019

32

Gaucher Disease in Fetus: The Usual and the Unusual Presentations in a Family

Mishra, Ranjana, Bijarnia-Mahay, Sunita, Sharma, Nidhish, Dimri, Nandita, Saxena, Renu, Puri, Ratna Dua, Verma, I. C.

Journal:

Journal of Fetal Medicine

Year:

2019

Language:

english

File:

PDF, 1.76 MB

english, 2019

33

Current Status of Noninvasive Prenatal Testing and Counselling Considerations: An Indian Perspective

Massa, James D., Arora, Veronica, Lallar, Meenakshi, Bijarnia, Sunita, Puri, Ratna Dua, Verma, Ishwar C.

Journal:

Journal of Fetal Medicine

Year:

2019

Language:

english

File:

PDF, 238 KB

english, 2019

34

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred

Mishra, Ranjana, Jain, Vibha, Gupta, Deepti, Saxena, Renu, Kulshreshtha, Samarth, Ramprasad, Vedam L., Verma, Ishwar C., Dua Puri, Ratna

Journal:

Molecular Syndromology

Year:

2020

Language:

english

File:

PDF, 1.52 MB

english, 2020

35

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

Arora, Veronica, Setia, Nitika, Dalal, Ashwin, Vanaja, Maria Celestina, Gupta, Deepti, Razdan, Tinku, Phadke, Shubha R., Saxena, Renu, Rohtagi, Anshu, Verma, Ishwar C., Puri, Ratna Dua

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 1.63 MB

2020

36

Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy

Kohli, Sudha, Saxena, Renu, Thomas, Elizabeth, Singh, Kuldeep, Bijarnia Mahay, Sunita, Puri, Ratna Dua, Verma, Ishwar Chander

Journal:

Indian Journal of Pediatrics

Year:

2020

File:

PDF, 594 KB

2020

37

Unique skeletal manifestations in patients with Primrose syndrome

Arora, Veronica, Leon, Eyby, Diaz, Jullianne, Hove, Hanne Buciek, Carvalho, Daniel Rocha, Kurosawa, Kenji, Nishimura, Naoto, Nishimura, Gen, Saxena, Renu, Ferreira, Carlos, Puri, Ratna Dua, Verma, Ish

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 4.24 MB

2020

38

Filaggrin Null-Mutation in Asthma in an Indian Cohort: One Link in a Polygenic Trait

Puri, Ratna Dua

Journal:

Indian Journal of Pediatrics

Year:

2020

File:

PDF, 130 KB

2020

39

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

Nampoothiri, Sheela, Yesodharan, Dhanya, Bhattacherjee, Amrita, Ahamed, Hisham, Puri, Ratna Dua, Gupta, Neerja, Kabra, Madhulika, Ranganath, Prajnya, Bhat, Meenakshi, Phadke, Shubha, Radha Rama Devi,

Journal:

Year:

2020

File:

PDF, 1.86 MB

2020

40

Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation

Singh, Ravi Kumar, Arora, Veronica, Tiwari, Vaibhav, Gupta, Deepti, Gupta, Anurag, Puri, Ratna Dua

Journal:

Journal of Pediatric Genetics

Year:

2020

File:

PDF, 869 KB

2020

41

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis

Arora, Veronica, Khan, Suliman, W. El-Hattab, Ayman, Dua Puri, Ratna, Rocha, Maria Eugenia, Merdzanic, Rijad, Paknia, Omid, Beetz, Christian, Rolfs, Arndt, Bertoli-Avella, Aida M., Bauer, Peter, Verma

Journal:

Journal of the American Society of Nephrology

Year:

2020

File:

PDF, 699 KB

2020

42

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results â a pilot study

Singh, Kanika, Bijarnia-Mahay, Sunita, Ramprasad, V. L., Puri, Ratna Dua, Nair, Sandhya, Sharda, Sheetal, Saxena, Renu, Kohli, Sudha, Kulshreshtha, Samarth, Ganguli, Indrani, Gujral, Kanwal, Verma, Is

Journal:

BMC Medical Genetics

Year:

2020

File:

PDF, 902 KB

2020