Search

Your search keyword '"Gambhir, Prakash"' showing total 29 results
Start Over Author "Gambhir, Prakash"
29 results on '"Gambhir, Prakash"'

5. Characterization of 40 novel HLA class I and class II alleles identified in umbilical cord blood units.

Author

Rajendran, Sureka, Murugan, Alagupandian, Nandakumar, Yogesh, Chaturvedi, Ankur, Phani, Nagaraja M., Padhiar, Chirayu, Goditala, Pardhasaradhi, and Gambhir, Prakash Sadashiv

Subjects
FRAMESHIFT mutation, CORD blood, SINGLE nucleotide polymorphisms, ALLELES
Abstract

Forty novel HLA class I and class II alleles were identified in umbilical cord blood (UCB) samples and categorized based on various types of mutations: non‐synonymous, synonymous, frameshift, and premature termination codon. This study described 14 novel HLA‐A alleles, 9 novel HLA‐B alleles, 4 novel HLA‐C alleles, 3 novel HLA‐DRB1 alleles and 10 novel HLA‐DQB1 alleles. Comparing the new allele sequence with the most homologous sequence, 60% of the novel alleles exhibited non‐synonymous substitution, 32.5% observed with synonymous substitution, 5% displayed premature stop codon, and 2.5% presented with frameshift mutation. The majority of the new alleles contained a single nucleotide variation when compared with the most similar sequence. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

7. Correspondence

Author

Singh, Shweta, Bhatia, B. D., Ansary, Althaf, Gambhir, Prakash, Anand, M. R., Parakh, Manish, Agarwal, Sheesham, Roy, Manas Pratim, Walsh, Kieran, John, T. Jacob, and Pothapregada, Sriram

Published
2015
Full Text
View/download PDF

9. Correspondence

Author

Nandi, Sukanta, Biswas, Arnab, Krishnamurthy, Sriram, Mahadevan, Subramanian, Singh, H. P., Solanki, Avani, Vundinti, Babu Rao, Harish, Kamlesh, Singh, Karanveer, Gambhir, Prakash, Gupta, Amit, Sarkar, Sumantra, Kumar, Rabi, Rai, Birendra, and Ray, Raja

Published
2014
Full Text
View/download PDF

11. Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34

Author

Radhakrishna, Uppala, Ratnamala, Uppala, Gaines, Mathew, Beiraghi, Soraya, Hutchings, David, Golla, Jeffrey, Husain, Syed A., Gambhir, Prakash S., Sheth, Jayesh J., Sheth, Frenny J., Chetan, Ghati K., Naveed, Mohammed, Solanki, Jitendra V., Patel, Uday C., Master, Dilipkumar C., Memon, Rafiq, Antonarakis, Gregory S., Antonarakis, Stylianos E., and Nath, Swapan K.

Subjects
Cleft lip -- Causes of, Cleft lip -- Research, Chromosome abnormalities -- Causes of, Chromosome abnormalities -- Research, Pedigree analysis, Biological sciences
Abstract

Two Indian pedigrees (UR017 and UR019) with isolated, nonsyndromic cleft palate (CL-P), in which the anomaly segregates as an autosomal dominant trait, are analyzed. The analysis resulted in the identification a novel genomic region on 13q33.1-34 that harbors a high-risk variant for CL-P in these Indian families.

Published
2006

14. Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases

Author

Bajaj, Shailesh, Ranade, Suvidya, and Gambhir, Prakash

Subjects
De Lange syndrome -- Risk factors -- Genetic aspects -- Research, Single nucleotide polymorphisms -- Research, Health, Science and technology
Abstract

Byline: Shailesh. Bajaj, Suvidya. Ranade, Prakash. Gambhir Background: Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder in children. The disorder is caused mainly due to mutations in Nipped-B-like [...]

Published
2013

25. Heterozygous Complete NIPBLGene Deletion in Cornelia de Lange Syndrome: First Case Report from India

Author

Bajaj, Shailesh, Nampoothiri, Sheela, Yesodharan, Dhanya, Gambhir, Prakash, and Ranade, Suvidya

Abstract

AbstractCornelia de Lange Syndrome-1 (CdLS; OMIM # 122470) is a multisystem, congenital, developmental disorder caused by heterozygous mutation in NIPBLgene on chromosome 5p13. CdLS is characterized by growth and developmental delay, facial dysmorphism, limb abnormality and other organ defects. The condition is mainly caused due to mutation in one of the cohesin ring forming genes. Among NIPBL, SMC1Aand SMC3; NIPBLis mainly responsible for causing CdLS. To date molecular data for Indian CdLS patients is not available. Entire NIPBLgene has been screened in 12 children showing CdLS using MLPA in this study. The study reports entire gene deletion in one proband and partial gene deletion in the second proband. The observed deletion was in heterozygous condition in both the cases. The finding was validated by real time PCR.

Published
2016
Full Text
View/download PDF

29. Cord Blood TSH for Screening of Hypothyroidism: Is it Justified?

Author

GAMBHIR, PRAKASH

Subjects
CORD blood transplantation, PERINATAL care
Abstract

A letter to the editor is presented in response to the article "Cord Blood Thyroid Stimulating Hormone Level - Interpretation in Light of Perinatal Factors," by A. Gupta et al in a 2014 issue.

Published
2014

Catalog

Books, media, physical & digital resources
See catalog results