Saxena R - Search Results

1

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

Singh K, Bijarnia-Mahay S, Ramprasad VL, Puri RD, Nair S, Sharda S, Saxena R, Kohli S, Kulshreshtha S, Ganguli I, Gujral K, Verma IC. Singh K, et al. Among authors: saxena r. BMC Med Genet. 2020 Nov 2;21(1):216. doi: 10.1186/s12881-020-01153-4. BMC Med Genet. 2020. PMID: 33138774 Free PMC article.

2

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

Verma IC, Saxena R, Lall M, Bijarnia S, Sharma R. Verma IC, et al. Among authors: saxena r. Indian J Pediatr. 2003 Apr;70(4):293-7. doi: 10.1007/BF02723582. Indian J Pediatr. 2003. PMID: 12793304

3

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

Verma IC, Bijarnia S, Saxena R, Kohli S, Puri RD, Thomas E, Chowdhary D, Jha SN, Grover AK. Verma IC, et al. Among authors: saxena r. Indian J Ophthalmol. 2005 Sep;53(3):167-71. doi: 10.4103/0301-4738.16674. Indian J Ophthalmol. 2005. PMID: 16137960 Free article.

4

Prenatal diagnosis of phenylketonuria.

Kohli S, Saxena R, Thomas E, Rao P, Verma IC. Kohli S, et al. Among authors: saxena r. Indian J Med Res. 2005 Nov;122(5):400-3. Indian J Med Res. 2005. PMID: 16456253

5

Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations.

Verma IC, Kleanthous M, Saxena R, Fucharoen S, Winichagoon P, Raizuddin S, Khan SN, Akbari MT, Izadyar M, Kotea N, Old JM, Ioannou PA, Khan B. Verma IC, et al. Among authors: saxena r. Hemoglobin. 2007;31(4):439-52. doi: 10.1080/03630260701641245. Hemoglobin. 2007. PMID: 17994378

6

Molecular studies of achondroplasia.

Nahar R, Saxena R, Kohli S, Puri R, Verma IC. Nahar R, et al. Among authors: saxena r. Indian J Orthop. 2009 Apr;43(2):194-6. doi: 10.4103/0019-5413.50856. Indian J Orthop. 2009. PMID: 19838370 Free PMC article.

7

Gene changes in Duchenne muscular dystrophy: comparison of multiplex PCR and multiplex ligation-dependent probe amplification techniques.

Kohli S, Saxena R, Thomas E, Singh J, Verma IC. Kohli S, et al. Among authors: saxena r. Neurol India. 2010 Nov-Dec;58(6):852-6. doi: 10.4103/0028-3886.73744. Neurol India. 2010. PMID: 21150048 Free article.

8

Mutation studies in the CFTR gene in Asian Indian subjects with congenital bilateral absence of vas deferens: report of two novel mutations and four novel variants.

Sachdeva K, Saxena R, Majumdar A, Chadha S, Verma IC. Sachdeva K, et al. Among authors: saxena r. Genet Test Mol Biomarkers. 2011 May;15(5):307-12. doi: 10.1089/gtmb.2010.0156. Epub 2011 Jan 22. Genet Test Mol Biomarkers. 2011. PMID: 21254931

9

Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies.

Sachdeva K, Saxena R, Majumdar A, Chadda S, Verma IC. Sachdeva K, et al. Among authors: saxena r. Genet Test Mol Biomarkers. 2011 Jun;15(6):451-9. doi: 10.1089/gtmb.2010.0159. Epub 2011 Mar 4. Genet Test Mol Biomarkers. 2011. PMID: 21375402

10

Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome.

Saxena R, Kohli S, Guleria K, Verma IC. Saxena R, et al. Hum Genet. 2010 Apr;127(4):480. Hum Genet. 2010. PMID: 21488255 No abstract available.

11

Novel human pathological mutations. Gene symbol: Zmpste24. Disease: Restrictive dermopathy.

Saxena R, Kohli S, Verma IC. Saxena R, et al. Hum Genet. 2010 Apr;127(4):480. Hum Genet. 2010. PMID: 21488301 No abstract available.

12

Novel human pathological mutations. Gene symbol: PAX3. Disease: Waardenburg syndrome.

Kohli S, Saxena R, Verma IC. Kohli S, et al. Among authors: saxena r. Hum Genet. 2010 Apr;127(4):485. Hum Genet. 2010. PMID: 21488309 No abstract available.

13

Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1.

Kohli S, Saxena R, Verma IC. Kohli S, et al. Among authors: saxena r. Hum Genet. 2010 Apr;127(4):485. Hum Genet. 2010. PMID: 21488310 No abstract available.

14

Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1.

Saxena R, Verma IC. Saxena R, et al. Hum Genet. 2010 Apr;127(4):488. Hum Genet. 2010. PMID: 21491618 No abstract available.

15

Novel human pathological mutations. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.

Saxena R, Verma IC. Saxena R, et al. Hum Genet. 2010 Apr;127(4):488. Hum Genet. 2010. PMID: 21491619 No abstract available.

16

Utility of molecular studies in incontinentia pigmenti patients.

Thakur S, Puri RD, Kohli S, Saxena R, Verma IC. Thakur S, et al. Among authors: saxena r. Indian J Med Res. 2011 Apr;133(4):442-5. Indian J Med Res. 2011. PMID: 21537100 Free PMC article.

17

β-Thalassemia mutations in subjects with borderline HbA₂ values: a pilot study in North India.

Rangan A, Sharma P, Dadu T, Saxena R, Verma IC, Bhargava M. Rangan A, et al. Among authors: saxena r. Clin Chem Lab Med. 2011 Sep 6;49(12):2069-72. doi: 10.1515/CCLM.2011.696. Clin Chem Lab Med. 2011. PMID: 21892914

18

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC. Thakur S, et al. Among authors: saxena r. Indian J Med Res. 2011 Oct;134(4):483-6. Indian J Med Res. 2011. PMID: 22089611 Free PMC article.

19

Past, present & future scenario of thalassaemic care & control in India.

Verma IC, Saxena R, Kohli S. Verma IC, et al. Among authors: saxena r. Indian J Med Res. 2011 Oct;134(4):507-21. Indian J Med Res. 2011. PMID: 22089615 Free PMC article. Review.

20

Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.

Sachdeva K, Saxena R, Puri R, Bijarnia S, Kohli S, Verma IC. Sachdeva K, et al. Among authors: saxena r. Genet Test Mol Biomarkers. 2012 Jul;16(7):798-801. doi: 10.1089/gtmb.2011.0283. Epub 2012 Feb 2. Genet Test Mol Biomarkers. 2012. PMID: 22299590 Clinical Trial.

21

Hemoglobinopathies in India--clinical and laboratory aspects.

Verma IC, Saxena R, Kohli S. Verma IC, et al. Among authors: saxena r. Clin Lab Med. 2012 Jun;32(2):249-62. doi: 10.1016/j.cll.2012.04.011. Clin Lab Med. 2012. PMID: 22727003 Review.

22

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

Bijarnia S, Kohli S, Puri RD, Jacob RJ, Saxena R, Jalan A, Sistermans EA, Mahmood S, Verma IC. Bijarnia S, et al. Among authors: saxena r. Indian J Pediatr. 2013 Jan;80(1):26-31. doi: 10.1007/s12098-012-0862-1. Epub 2012 Aug 10. Indian J Pediatr. 2013. PMID: 22878930

23

Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

Nahar R, Puri RD, Saxena R, Verma IC. Nahar R, et al. Among authors: saxena r. Am J Med Genet A. 2013 Jan;161A(1):76-81. doi: 10.1002/ajmg.a.35692. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208825

24

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

Nahar R, Deb R, Saxena R, Puri RD, Verma IC. Nahar R, et al. Among authors: saxena r. Pharmacol Rep. 2013;65(1):187-94. doi: 10.1016/s1734-1140(13)70977-0. Pharmacol Rep. 2013. PMID: 23563037 Free article.

25

Implication of novel CYP2C9*57 (p.Asn204His) variant in coumarin hypersensitivity.

Nahar R, Dube D, Parakh R, Deb R, Saxena R, Singh TP, Verma IC. Nahar R, et al. Among authors: saxena r. Thromb Res. 2013 Jun;131(6):535-9. doi: 10.1016/j.thromres.2013.03.019. Epub 2013 Apr 11. Thromb Res. 2013. PMID: 23582453

26

Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers.

Nahar R, Saxena R, Deb R, Verma IC. Nahar R, et al. Among authors: saxena r. Indian J Hum Genet. 2012 Sep;18(3):326-31. doi: 10.4103/0971-6866.107987. Indian J Hum Genet. 2012. PMID: 23716941 Free PMC article.

27

Lack of any association of the CTLA-4 +49 G/A polymorphism with breast cancer risk in a North Indian population.

Minhas S, Bhalla S, Shokeen Y, Jauhri M, Saxena R, Verma IC, Aggarwal S. Minhas S, et al. Among authors: saxena r. Asian Pac J Cancer Prev. 2014;15(5):2035-8. doi: 10.7314/apjcp.2014.15.5.2035. Asian Pac J Cancer Prev. 2014. PMID: 24716930 Free article.

28

CYP2C9, VKORC1, CYP4F2, ABCB1 and F5 variants: influence on quality of long-term anticoagulation.

Nahar R, Saxena R, Deb R, Parakh R, Shad S, Sethi PK, Takkar P, Verma IC. Nahar R, et al. Among authors: saxena r. Pharmacol Rep. 2014 Apr;66(2):243-9. doi: 10.1016/j.pharep.2013.09.006. Epub 2014 Mar 3. Pharmacol Rep. 2014. PMID: 24911077

29

Fanconi-Bickel syndrome - mutation in SLC2A2 gene.

Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N. Kehar M, et al. Among authors: saxena r. Indian J Pediatr. 2014 Nov;81(11):1237-9. doi: 10.1007/s12098-014-1487-3. Epub 2014 Jun 10. Indian J Pediatr. 2014. PMID: 24912437 Free PMC article.

30

Molecular diagnosis of infantile Neuro axonal Dystrophy by Next Generation Sequencing.

Goyal M, Bijarnia-Mahay S, Kingsmore S, Farrow E, Saunders C, Saxena R, Verma IC. Goyal M, et al. Among authors: saxena r. Indian J Pediatr. 2015 May;82(5):474-7. doi: 10.1007/s12098-014-1608-z. Epub 2014 Oct 29. Indian J Pediatr. 2015. PMID: 25348461 Free PMC article.

31

Guidelines for screening, diagnosis and management of hemoglobinopathies.

Ghosh K, Colah R, Manglani M, Choudhry VP, Verma I, Madan N, Saxena R, Jain D, Marwaha N, Das R, Mohanty D, Choudhary R, Agarwal S, Ghosh M, Ross C. Ghosh K, et al. Among authors: saxena r. Indian J Hum Genet. 2014 Apr;20(2):101-19. doi: 10.4103/0971-6866.142841. Indian J Hum Genet. 2014. PMID: 25400338 Free PMC article. Review.

32

Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from India.

Bijarnia-Mahay S, Movva S, Gupta N, Sharma D, Puri RD, Kotecha U, Saxena R, Kabra M, Mohan N, Verma IC. Bijarnia-Mahay S, et al. Among authors: saxena r. JIMD Rep. 2015;19:85-93. doi: 10.1007/8904_2014_374. Epub 2015 Jan 18. JIMD Rep. 2015. PMID: 25595217 Free PMC article.

33

Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.

Ranjan P, Kohli S, Saxena R, Thakur S. Ranjan P, et al. Among authors: saxena r. J Clin Exp Hepatol. 2011 Dec;1(3):204-6. doi: 10.1016/S0973-6883(11)60239-9. Epub 2012 Jan 2. J Clin Exp Hepatol. 2011. PMID: 25755387 Free PMC article.

34

Citrin deficiency: A treatable cause of acute psychosis in adults.

Bijarnia-Mahay S, Häberle J, Rüfenacht V, Shigematsu Y, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: saxena r. Neurol India. 2015 Mar-Apr;63(2):220-2. doi: 10.4103/0028-3886.156285. Neurol India. 2015. PMID: 25947987 Free article.

35

Noninvasive Diagnosis of Fetal Gender: Utility of Combining DYS14 and SRY.

Jacob RR, Saxena R, Verma IC. Jacob RR, et al. Among authors: saxena r. Genet Test Mol Biomarkers. 2015 Sep;19(9):505-11. doi: 10.1089/gtmb.2015.0040. Epub 2015 Jun 29. Genet Test Mol Biomarkers. 2015. PMID: 26121024

36

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders.

Verma J, Thomas DC, Sharma S, Jhingan G, Saxena R, Kohli S, Puri RD, Bijarnia S, Verma IC. Verma J, et al. Among authors: saxena r. Prenat Diagn. 2015 Nov;35(11):1137-47. doi: 10.1002/pd.4663. Epub 2015 Sep 3. Prenat Diagn. 2015. PMID: 26223439

37

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

Gupta D, Bijarnia-Mahay S, Saxena R, Kohli S, Dua-Puri R, Verma J, Thomas E, Shigematsu Y, Yamaguchi S, Deb R, Verma IC. Gupta D, et al. Among authors: saxena r. Eur J Med Genet. 2015 Sep;58(9):471-8. doi: 10.1016/j.ejmg.2015.08.002. Epub 2015 Aug 7. Eur J Med Genet. 2015. PMID: 26257134

38

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC. Vyas B, et al. Among authors: saxena r. Am J Med Genet A. 2016 Jun;170(6):1510-9. doi: 10.1002/ajmg.a.37636. Epub 2016 Apr 4. Am J Med Genet A. 2016. PMID: 27041150 Review.

39

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

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. Gupta D, et al. Among authors: saxena r. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27227689

40

Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene.

Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N. Kehar M, et al. Among authors: saxena r. Indian J Pediatr. 2016 Nov;83(11):1362. doi: 10.1007/s12098-016-2197-9. Indian J Pediatr. 2016. PMID: 27477478 Free PMC article. No abstract available.

41

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Vyas B, Puri RD, Namboodiri N, Saxena R, Nair M, Balakrishnan P, Jayakrishnan MP, Udyavar A, Kishore R, Verma IC. Vyas B, et al. Among authors: saxena r. Indian Pacing Electrophysiol J. 2016 Jan-Feb;16(1):8-18. doi: 10.1016/j.ipej.2016.03.003. Epub 2016 Mar 30. Indian Pacing Electrophysiol J. 2016. PMID: 27485560 Free PMC article.

42

Does Formaldehyde Increase Cell Free DNA in Maternal Plasma Specimens?

Jacob RR, Saxena R, Verma IC. Jacob RR, et al. Among authors: saxena r. Lab Med. 2016 Nov;47(4):286-292. doi: 10.1093/labmed/lmw031. Epub 2016 Aug 24. Lab Med. 2016. PMID: 27558515

43

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

Deswal S, Bijarnia-Mahay S, Manocha V, Hara K, Shigematsu Y, Saxena R, Verma IC. Deswal S, et al. Among authors: saxena r. Indian J Pediatr. 2017 Jan;84(1):83-85. doi: 10.1007/s12098-016-2227-7. Epub 2016 Sep 1. Indian J Pediatr. 2017. PMID: 27581592

44

RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.

Sondhi V, Chakrabarty B, Kumar A, Kohli S, Saxena R, Verma IC, Gulati S. Sondhi V, et al. Among authors: saxena r. Brain Dev. 2016 Nov;38(10):937-942. doi: 10.1016/j.braindev.2016.05.007. Epub 2016 Aug 30. Brain Dev. 2016. PMID: 27591117

45

Ethylmalonic Encephalopathy in an Indian Boy.

Bijarnia-Mahay S, Gupta D, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: saxena r. Indian Pediatr. 2016 Oct 8;53(10):914-916. doi: 10.1007/s13312-016-0959-0. Indian Pediatr. 2016. PMID: 27771676 Free article.

46

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Setia N, Saxena R, Arora A, Verma IC. Setia N, et al. Among authors: saxena r. Atherosclerosis. 2016 Dec;255:31-36. doi: 10.1016/j.atherosclerosis.2016.10.028. Epub 2016 Oct 14. Atherosclerosis. 2016. PMID: 27816806

47

Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient with Familial Breast Cancer.

Sharma Bhai P, Sharma D, Saxena R, Verma IC. Sharma Bhai P, et al. Among authors: saxena r. Breast Care (Basel). 2017 May;12(2):114-116. doi: 10.1159/000457786. Epub 2017 Mar 21. Breast Care (Basel). 2017. PMID: 28559769 Free PMC article.

48

Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults.

Kumar P, Sasmal G, Gupta S, Saxena R, Kohli S. Kumar P, et al. Among authors: saxena r. J Clin Diagn Res. 2017 Jul;11(7):OD05-OD06. doi: 10.7860/JCDR/2017/28195.10221. Epub 2017 Jul 1. J Clin Diagn Res. 2017. PMID: 28892962 Free PMC article.

49

Familial Hypercholesterolemia: Cascade Screening in Children and Relatives of the Affected.

Setia N, Saxena R, Sawhney JPS, Verma IC. Setia N, et al. Among authors: saxena r. Indian J Pediatr. 2018 May;85(5):339-343. doi: 10.1007/s12098-017-2589-5. Epub 2018 Feb 15. Indian J Pediatr. 2018. PMID: 29450819

50

Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease.

Pandita S, Maurya D, Ramachandran V, Verma J, Kohli S, Saxena R, Verma IC. Pandita S, et al. Among authors: saxena r. Int J Mol Cell Med. 2017 Summer;6(3):164-173. doi: 10.22088/acadpub.BUMS.6.3.164. Epub 2017 Sep 26. Int J Mol Cell Med. 2017. PMID: 29682488 Free PMC article.

51

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

Bhai P, Bijarnia-Mahay S, Puri RD, Saxena R, Gupta D, Kotecha U, Sachdev A, Gupta D, Vyas V, Agarwal D, Jain V, Bansal RK, Kumar TG, Verma IC. Bhai P, et al. Among authors: saxena r. Ann Hum Genet. 2018 Sep;82(5):309-317. doi: 10.1111/ahg.12256. Epub 2018 May 18. Ann Hum Genet. 2018. PMID: 29774539

52

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

Singh K, Puri RD, Bhai P, Arya AD, Chawla G, Saxena R, Verma IC. Singh K, et al. Among authors: saxena r. J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):799-807. doi: 10.1515/jpem-2018-0023. J Pediatr Endocrinol Metab. 2018. PMID: 29874194 Free article.

53

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

Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: saxena r. Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. Orphanet J Rare Dis. 2018. PMID: 30285816 Free PMC article.

54

The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.

Arora V, Puri RD, Bhai P, Sharma N, Bijarnia-Mahay S, Dimri N, Baijal A, Saxena R, Verma I. Arora V, et al. Among authors: saxena r. Am J Med Genet A. 2019 Mar;179(3):480-485. doi: 10.1002/ajmg.a.61030. Epub 2019 Jan 28. Am J Med Genet A. 2019. PMID: 30690882

55

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC. Pandita S, et al. Among authors: saxena r. J Hum Genet. 2019 May;64(5):409-419. doi: 10.1038/s10038-019-0582-8. Epub 2019 Feb 28. J Hum Genet. 2019. PMID: 30816285 Clinical Trial.

56

Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India.

Sachdeva A, Jain P, Gunasekaran V, Mahay SB, Mukherjee S, Hagerman R, Shankar S, Kapoor S, Kedia SN; Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee.; Indian Academy of Pediatrics Consensus in Diagnosis and Management of Fragile X Syndrome Committee. Sachdeva A, et al. Indian Pediatr. 2019 Mar 15;56(3):221-228. Indian Pediatr. 2019. PMID: 30954995 Free article.

57

Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Khatter S, Puri RD, Mahay SB, Bhai P, Saxena R, Verma IC. Khatter S, et al. Among authors: saxena r. Indian J Dermatol. 2019 Mar-Apr;64(2):143-145. doi: 10.4103/ijd.IJD_510_17. Indian J Dermatol. 2019. PMID: 30983611 Free PMC article.

58

A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.

Bhai P, Saxena R, Kulshrestha S, Verma IC. Bhai P, et al. Among authors: saxena r. Cancer Genet. 2019 Jun;235-236:13-17. doi: 10.1016/j.cancergen.2019.05.003. Epub 2019 May 31. Cancer Genet. 2019. PMID: 31296309

59

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

Arora V, Setia N, Dalal A, Vanaja MC, Gupta D, Razdan T, Phadke SR, Saxena R, Rohtagi A, Verma IC, Puri RD. Arora V, et al. Among authors: saxena r. Mol Genet Metab Rep. 2020 Jan 11;22:100561. doi: 10.1016/j.ymgmr.2019.100561. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 31956508 Free PMC article.

60

Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.

Setia N, Movva S, Balakrishnan P, Biji IK, Sawhney JPS, Puri R, Arora A, Puri RD, Saxena R, Mishra S, Apte S, Kulshrestha S, Ramprasad VL, Verma IC. Setia N, et al. Among authors: saxena r. J Clin Lipidol. 2020 Jan-Feb;14(1):35-45. doi: 10.1016/j.jacl.2019.12.010. Epub 2020 Jan 9. J Clin Lipidol. 2020. PMID: 32044282

61

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

Mishra R, Jain V, Gupta D, Saxena R, Kulshreshtha S, Ramprasad VL, Verma IC, Dua Puri R. Mishra R, et al. Among authors: saxena r. Mol Syndromol. 2020 Feb;11(1):43-49. doi: 10.1159/000505506. Epub 2020 Jan 17. Mol Syndromol. 2020. PMID: 32256301 Free PMC article.

62

Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.

Kohli S, Saxena R, Thomas E, Singh K, Bijarnia Mahay S, Puri RD, Verma IC. Kohli S, et al. Among authors: saxena r. Indian J Pediatr. 2020 Jul;87(7):495-504. doi: 10.1007/s12098-020-03286-z. Epub 2020 May 2. Indian J Pediatr. 2020. PMID: 32358784

63

Unique skeletal manifestations in patients with Primrose syndrome.

Arora V, Leon E, Diaz J, Hove HB, Carvalho DR, Kurosawa K, Nishimura N, Nishimura G, Saxena R, Ferreira C, Puri RD, Verma IC. Arora V, et al. Among authors: saxena r. Eur J Med Genet. 2020 Aug;63(8):103967. doi: 10.1016/j.ejmg.2020.103967. Epub 2020 May 27. Eur J Med Genet. 2020. PMID: 32473227 Free PMC article.

64

Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.

Verma IC, Kohli S, Shenbagam S, Bijarnia-Mahay S, DuaPuri R, Saxena R. Verma IC, et al. Among authors: saxena r. Clin Genet. 2020 Aug;98(2):198-199. doi: 10.1111/cge.13796. Clin Genet. 2020. PMID: 32666593 No abstract available.

65

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.

Bhai P, Kulshrestha S, Puri RD, Bijarnia Mahay S, Saxena R, Verma IC. Bhai P, et al. Among authors: saxena r. Indian J Gastroenterol. 2020 Dec;39(6):599-607. doi: 10.1007/s12664-020-01096-x. Epub 2020 Nov 16. Indian J Gastroenterol. 2020. PMID: 33191490

66

Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.

Sandal S, Razdan TB, Verma J, Dubey S, Ghosh A, Saxena R, Puri RD. Sandal S, et al. Among authors: saxena r. Clin Dysmorphol. 2021 Apr 1;30(2):110-114. doi: 10.1097/MCD.0000000000000361. Clin Dysmorphol. 2021. PMID: 33290291 No abstract available.

67

Eyes See what the Mind Knows: Clues to Pattern Recognition in Single Enzyme Deficiency-Related Peroxisomal Disorders.

Arora V, Bijarnia-Mahay S, Dubey S, Saxena R. Arora V, et al. Among authors: saxena r. Mol Syndromol. 2020 Dec;11(5-6):309-314. doi: 10.1159/000510480. Epub 2020 Sep 30. Mol Syndromol. 2020. PMID: 33510602 Free PMC article.

68

Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss.

Lallar M, Arora V, Saxena R, Puri RD, Verma IC. Lallar M, et al. Among authors: saxena r. J Pediatr Genet. 2021 Mar;10(1):70-73. doi: 10.1055/s-0040-1708052. Epub 2020 Mar 9. J Pediatr Genet. 2021. PMID: 33552643 Free PMC article.

69

LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family.

Bijarnia-Mahay S, Roy G, Padiath QS, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: saxena r. Ann Indian Acad Neurol. 2021 May-Jun;24(3):413-416. doi: 10.4103/aian.AIAN_1262_20. Epub 2021 May 21. Ann Indian Acad Neurol. 2021. PMID: 34447008 Free PMC article.

70

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II.

Sandal S, Mahay SB, Gupta D, Saxena R, Verma J, Saxena KK, Puri RD. Sandal S, et al. Among authors: saxena r, saxena kk. Clin Dysmorphol. 2022 Jan 1;31(1):23-27. doi: 10.1097/MCD.0000000000000388. Clin Dysmorphol. 2022. PMID: 34561315 No abstract available.

71

Molecular studies in familial dilated cardiomyopathy - A pilot study.

Mori V, Sawhney JPS, Verma IC, Mehta A, Saxena R, Passey R, Mohanty A, Kandpal B, Vivek BS, Sharma M, Jain AK, Katare D. Mori V, et al. Among authors: saxena r. Int J Cardiol Heart Vasc. 2022 Apr 11;40:101023. doi: 10.1016/j.ijcha.2022.101023. eCollection 2022 Jun. Int J Cardiol Heart Vasc. 2022. PMID: 35463915 Free PMC article.

72

Mishra R, Kulshreshtha S, Mandal K, Khurana A, Diego-Álvarez D, Pradas L, Saxena R, Phadke S, Moirangthem A, Masih S, Sud S, Verma IC, Dua Puri R. Mishra R, et al. Among authors: saxena r. Am J Med Genet A. 2022 Aug;188(8):2339-2350. doi: 10.1002/ajmg.a.62768. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35499143

73

Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.

Singh K, Puri RD, Bijarnia-Mahay S, Lall M, Verma J, Saxena R, Kohli S, Thomas D, Saviour P, Verma IC. Singh K, et al. Among authors: saxena r. Indian Pediatr. 2022 Jun 15;59(6):463-466. Indian Pediatr. 2022. PMID: 35695141 Free article.

74

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.

Takkar A, Arora V, Saxena R, Kumar P, Verma IC. Takkar A, et al. Among authors: saxena r. Indian J Pediatr. 2022 Nov;89(11):1137-1139. doi: 10.1007/s12098-022-04325-7. Epub 2022 Aug 4. Indian J Pediatr. 2022. PMID: 35925544

75

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Biji IK, Yadav S, Kulshrestha S, Saxena R, Kohli S, Verma IC, Kumar B, Puri RD. Biji IK, et al. Among authors: saxena r. Eur J Med Genet. 2022 Oct;65(10):104595. doi: 10.1016/j.ejmg.2022.104595. Epub 2022 Aug 22. Eur J Med Genet. 2022. PMID: 36007841

76

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.

Kohli S, Saxena R, Puri RD, Bijarnia Mahay S, Pal S, Dubey S, Arora V, Verma I. Kohli S, et al. Among authors: saxena r. Eur J Hum Genet. 2023 Nov 30. doi: 10.1038/s41431-023-01496-5. Online ahead of print. Eur J Hum Genet. 2023. PMID: 38030918

77

CEDNIK Syndrome - A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis.

Bijarnia-Mahay S, Bhatia S, Gupta D, Sud A, Dubey S, Saxena R. Bijarnia-Mahay S, et al. Among authors: saxena r. Indian J Pediatr. 2024 Mar 6. doi: 10.1007/s12098-024-05086-1. Online ahead of print. Indian J Pediatr. 2024. PMID: 38443713 No abstract available.

78

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

Bhatia S, Pal S, Kulshrestha S, Gupta D, Soni A, Saxena R, Bijarnia-Mahay S, Verma IC, Puri RD. Bhatia S, et al. Among authors: saxena r. Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01569-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38605122

79

Venous thrombosis: prevalence of prothrombotic defects in north Indian population.

Bhattacharyya M, Kannan M, Chaudhry VP, Saxena R. Bhattacharyya M, et al. Among authors: saxena r. Indian J Pathol Microbiol. 2003 Oct;46(4):621-4. Indian J Pathol Microbiol. 2003. PMID: 15025358

80

Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations.

Miyamura Y, Verma IC, Saxena R, Murase A, Kono M, Suzuki T, Yasue S, Shibata S, Sakakibara A, Tomita Y. Miyamura Y, et al. Among authors: saxena r. J Dermatol Sci. 2005 Sep;39(3):167-73. doi: 10.1016/j.jdermsci.2005.03.004. J Dermatol Sci. 2005. PMID: 15885985

81

Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1).

Miyamura Y, Verma IC, Saxena R, Hoshi M, Murase A, Nakamura E, Kono M, Suzuki T, Yasue S, Shibata S, Sakakibara A, Tomita Y. Miyamura Y, et al. Among authors: saxena r. J Invest Dermatol. 2005 Aug;125(2):397-8. doi: 10.1111/j.0022-202X.2005.23815.x. J Invest Dermatol. 2005. PMID: 16098056 Free article. No abstract available.

82

Use of Intron 1 and 22 inversions and linkage analysis in carrier detection of hemophilia A in Indians.

Ahmed R, Kannan M, Biswas A, Ranjan R, Choudhry VP, Saxena R. Ahmed R, et al. Among authors: saxena r. Clin Chim Acta. 2006 Mar;365(1-2):109-12. doi: 10.1016/j.cca.2005.08.001. Epub 2005 Aug 29. Clin Chim Acta. 2006. PMID: 16129422

83

Prevalence of JAK2 V617F mutation in Indian patients with chronic myeloproliferative disorders.

Sazawal S, Bajaj J, Chikkara S, Jain S, Bhargava R, Mahapatra M, Saxena R. Sazawal S, et al. Among authors: saxena r. Indian J Med Res. 2010 Oct;132:423-7. Indian J Med Res. 2010. PMID: 20966521 Free article.

84

Kearns Sayre Syndrome--case report with review of literature.

Phadke M, Lokeshwar MR, Bhutada S, Tampi C, Saxena R, Kohli S, Shah KN. Phadke M, et al. Among authors: saxena r. Indian J Pediatr. 2012 May;79(5):650-4. doi: 10.1007/s12098-011-0618-3. Epub 2012 Jan 10. Indian J Pediatr. 2012. PMID: 22231766 Retracted. Review.

85

Higher incidence of C677T polymorphism of the MTHFR gene in North Indian patients with vascular disease.

Bhargava S, Ali A, Parakh R, Saxena R, Srivastava LM. Bhargava S, et al. Among authors: saxena r. Vascular. 2012 Apr;20(2):88-95. doi: 10.1258/vasc.2011.oa0320. Epub 2012 Feb 28. Vascular. 2012. PMID: 22375042

86

Incidence of Antiphospholipid Antibodies in Patients With Immune Thrombocytopenia and Correlation With Treatment With Steroids in North Indian Population.

Dayama A, Dass J, Mahapatra M, Saxena R. Dayama A, et al. Among authors: saxena r. Clin Appl Thromb Hemost. 2017 Sep;23(6):657-662. doi: 10.1177/1076029616643820. Epub 2016 Apr 10. Clin Appl Thromb Hemost. 2017. PMID: 27067744 Free article.

87

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

Sandal S, Mahay SB, Dimri Gupta N, Saxena R, Lall M, Dua Puri R. Sandal S, et al. Among authors: saxena r. Am J Med Genet A. 2022 Jun;188(6):1904-1908. doi: 10.1002/ajmg.a.62692. Epub 2022 Feb 21. Am J Med Genet A. 2022. PMID: 35191187

88

Factor V Leiden: is it the chief contributor to activated protein C resistance in Asian-Indian patients with deep vein thrombosis?

Biswas A, Bajaj J, Ranjan R, Meena A, Akhter MS, Yadav BK, Sharma V, Saxena R. Biswas A, et al. Among authors: saxena r. Clin Chim Acta. 2008 Jun;392(1-2):21-4. doi: 10.1016/j.cca.2008.02.018. Epub 2008 Feb 25. Clin Chim Acta. 2008. PMID: 18342013

89

Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.

Maruo Y, Verma IC, Matsui K, Takahashi H, Mimura Y, Ota Y, Mori A, Saxena R, Sato H, Takeuchi Y. Maruo Y, et al. Among authors: saxena r. J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):308-11. doi: 10.1097/MPG.0b013e3181638c8b. J Pediatr Gastroenterol Nutr. 2008. PMID: 18376249 No abstract available.

90

Glanzmann's thrombasthenia in North Indians: sub classification and carrier detection by flow cytometry.

Kannan M, Ahmad F, Yadav BK, Anand M, Jain P, Kumar R, Saxena R. Kannan M, et al. Among authors: saxena r. Platelets. 2009 Feb;20(1):12-5. doi: 10.1080/09537100802434853. Platelets. 2009. PMID: 19172516

91

Cytogenetic profile of Indian patients with de novo myelodysplastic syndromes.

Chaubey R, Sazawal S, Dada R, Mahapatra M, Saxena R. Chaubey R, et al. Among authors: saxena r. Indian J Med Res. 2011 Oct;134(4):452-7. Indian J Med Res. 2011. PMID: 22089606 Free PMC article.

92

Polymorphisms in factor V and antithrombin III gene in recurrent pregnancy loss: a case-control study in Indian population.

Sharma A, Bhakuni T, Ranjan R, Kumar R, Kishor K, Kamal VK, Mahapatra M, Jairajpuri MA, Saxena R. Sharma A, et al. Among authors: saxena r. J Thromb Thrombolysis. 2015 May;39(4):481-8. doi: 10.1007/s11239-015-1186-6. J Thromb Thrombolysis. 2015. PMID: 25771983 Clinical Trial.

93

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India.

Pandey H, Ranjan R, Singh K, Sharma A, Kishor K, Seth T, Saxena R. Pandey H, et al. Among authors: saxena r. Hematology. 2018 Oct;23(9):692-696. doi: 10.1080/10245332.2018.1458934. Epub 2018 Apr 5. Hematology. 2018. PMID: 29621931

94

Spectrum of inherited bleeding disorders in Indians.

Gupta M, Bhattacharyya M, Choudhry VP, Saxena R. Gupta M, et al. Among authors: saxena r. Clin Appl Thromb Hemost. 2005 Jul;11(3):325-30. doi: 10.1177/107602960501100311. Clin Appl Thromb Hemost. 2005. PMID: 16015418 Free article.

95

Inherited platelet function disorders versus other inherited bleeding disorders: an Indian overview.

Ahmad F, Kannan M, Ranjan R, Bajaj J, Choudhary VP, Saxena R. Ahmad F, et al. Among authors: saxena r. Thromb Res. 2008;121(6):835-41. doi: 10.1016/j.thromres.2007.07.015. Epub 2007 Sep 11. Thromb Res. 2008. PMID: 17850851

96

Importance of investigating somatic and germline mutations in hemophilia A: a preliminary study from All India Institute of Medical Sciences, India.

Ranjan R, Biswas A, Meena A, Akhter MS, Yadav BK, Ahmed RH, Saxena R. Ranjan R, et al. Among authors: saxena r. Clin Chim Acta. 2008 Mar;389(1-2):103-8. doi: 10.1016/j.cca.2007.11.030. Epub 2007 Dec 7. Clin Chim Acta. 2008. PMID: 18191040

97

Plasminogen activator inhibitor-1 (PAI-1) gene 4G/5G promoter polymorphism is seen in higher frequency in the Indian patients with deep vein thrombosis.

Akhter MS, Biswas A, Ranjan R, Meena A, Yadav BK, Sharma A, Saxena R. Akhter MS, et al. Among authors: saxena r. Clin Appl Thromb Hemost. 2010 Apr;16(2):184-8. doi: 10.1177/1076029609333673. Epub 2009 May 5. Clin Appl Thromb Hemost. 2010. PMID: 19419975 Free article.

98

The nitric oxide synthase 3 gene polymorphisms and their association with deep vein thrombosis in Asian Indian patients.

Akhter MS, Biswas A, Ranjan R, Sharma A, Kumar S, Saxena R. Akhter MS, et al. Among authors: saxena r. Clin Chim Acta. 2010 May 2;411(9-10):649-52. doi: 10.1016/j.cca.2010.01.025. Epub 2010 Jan 28. Clin Chim Acta. 2010. PMID: 20114041

99

Modulating Effect of the -158 γ (C→T) Xmn1 Polymorphism in Indian Sickle Cell Patients.

Pandey S, Pandey S, Mishra RM, Saxena R. Pandey S, et al. Among authors: saxena r. Mediterr J Hematol Infect Dis. 2012;4(1):e2012001. doi: 10.4084/MJHID.2012.001. Epub 2012 Jan 15. Mediterr J Hematol Infect Dis. 2012. PMID: 22348183 Free PMC article.

100

Phenotypic effect of α-globin gene numbers on Indian sickle β-thalassemia patients.

Pandey SK, Pandey S, Ranjan R, Shah V, Mishra RM, Sharma M, Saxena R. Pandey SK, et al. Among authors: saxena r. J Clin Lab Anal. 2014 Mar;28(2):110-3. doi: 10.1002/jcla.21652. Epub 2014 Jan 6. J Clin Lab Anal. 2014. PMID: 24395608 Free PMC article.

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