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1.

Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.

Sandal, Sapna; Mahay, Sunita Bijarnia; Dimri Gupta, Nandita; Saxena, Renu; Lall, Meena; Dua Puri, Ratna.

Am J Med Genet A ; 188(6): 1904-1908, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35191187

2.

COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.

Mishra, Ranjana; Kulshreshtha, Samarth; Mandal, Kausik; Khurana, Ashok; Diego-Álvarez, Dan; Pradas, Laura; Saxena, Renu; Phadke, Shubha; Moirangthem, Amita; Masih, Suzena; Sud, Seema; Verma, Ishwar Chander; Dua Puri, Ratna.

Am J Med Genet A ; 188(8): 2339-2350, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35499143

3.

Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

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

J Am Soc Nephrol ; 32(1): 223-228, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-33020172

4.

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Deshpande, Dipti; Gupta, Shailesh Kumar; Sarma, Asodu Sandeep; Ranganath, Prajnya; Jain S, Jamal Md Nurul; Sheth, Jayesh; Mistri, Mehul; Gupta, Neerja; Kabra, Madhulika; Phadke, Shubha R; Girisha, Katta M; Dua Puri, Ratna; Aggarwal, Shagun; Datar, Chaitanya; Mandal, Kausik; Tilak, Preetha; Muranjan, Mamta; Bijarnia-Mahay, Sunita; Rama Devi A, Radha; Tayade, Naresh B; Ranjan, Akash; Dalal, Ashwin B.

Hum Mutat ; 42(10): 1336-1350, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34273913

5.

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Kaur, Parneet; do Rosario, Michelle C; Hebbar, Malavika; Sharma, Suvasini; Kausthubham, Neethukrishna; Nair, Karthik; A, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie Edward S; Nampoothiri, Sheela; Patil, Siddaramappa J; Suresh, Narayanaswami; Bijarnia Mahay, Sunita; Dua Puri, Ratna; Pai, Shivanand; Kaur, Anupriya; Kc, Rakshith; Kamath, Nutan; Bajaj, Shruti; Kumble, Ali; Shetty, Rajesh; Shenoy, Rathika; Kamate, Mahesh; Shah, Hitesh; Muranjan, Mamta N; Bl, Yatheesha; Avabratha, K Shreedhara; Subramaniam, Girish; Kadavigere, Rajagopal; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju.

Clin Genet ; 100(5): 542-550, 2021 11.

Artículo en Inglés | MEDLINE | ID: mdl-34302356

6.

Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.

Verma, Jyotsna; Roy, Papai; Thomas, Divya C; Dua Puri, Ratna; Verma, I C.

Clin Chim Acta ; 521: 177-190, 2021 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-34280392

7.

Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience.

Bajaj Lall, Meena; Agarwal, Shruti; Paliwal, Preeti; Saviour, Pushpa; Joshi, Anju; Joshi, Arti; Mahajan, Surbhi; Bijarnia-Mahay, Sunita; Dua Puri, Ratna; Verma, I C.

J Obstet Gynaecol India ; 71(2): 156-167, 2021 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-34149218

8.

The fatal fetal tumor: a geneticist's perspective.

Arora, Veronica; Bijarnia Mahay, Sunita; Rao, Seema; Dimri, Nandita; Manocha, Anisha; Mansukhani, Chandra; Mishra, Ranjana; Gupta, Seema; Dua Puri, Ratna; Verma, I C.

J Matern Fetal Neonatal Med ; 34(6): 1006-1008, 2021 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-31113261

9.

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.

Mol Syndromol ; 11(1): 43-49, 2020 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-32256301

10.

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.

Mol Syndromol ; 9(6): 312-318, 2019 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-30800048

11.

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.

Eur J Med Genet ; 58(9): 471-8, 2015 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-26257134

12.

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.

Birth Defects Res ; 110(15): 1205-1209, 2018 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-30151876

13.

Down syndrome in India--diagnosis, screening, and prenatal diagnosis.

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

Clin Lab Med ; 32(2): 231-48, 2012 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-22727002

14.

Next Generation Sequencing in the Clinic.

Dua Puri, Ratna.

Indian J Pediatr ; 83(4): 281-2, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26872684

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