Ramachandran V - Search Results

1

Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M. Yates TM, et al. Among authors: ramachandran v. Hum Mutat. 2020 May;41(5):1042-1050. doi: 10.1002/humu.24001. Epub 2020 Mar 5. Hum Mutat. 2020. PMID: 32097528 Free article.

2

Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW. Sund KL, et al. Among authors: ramachandran v. Hum Mol Genet. 2009 May 15;18(10):1813-24. doi: 10.1093/hmg/ddp098. Epub 2009 Feb 27. Hum Mol Genet. 2009. PMID: 19251731 Free PMC article.

3

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: ramachandran v. 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.

4

A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.

Pavlidou E, Ramachandran V, Govender V, Wilson C, Das R, Vlachou V, Pavlou E, Saggar A, Mankad K, Kinali M. Pavlidou E, et al. Among authors: ramachandran v. Brain Dev. 2017 Mar;39(3):271-274. doi: 10.1016/j.braindev.2016.09.012. Epub 2016 Oct 25. Brain Dev. 2017. PMID: 27793435

5

Lessons learnt from prenatal exome sequencing.

Chandler NJ, Scotchman E, Mellis R, Ramachandran V, Roberts R, Chitty LS. Chandler NJ, et al. Among authors: ramachandran v. Prenat Diagn. 2022 Jun;42(7):831-844. doi: 10.1002/pd.6165. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35506549 Free PMC article.

6

A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia.

Willison C, Ramachandran V, Chandler NJ, Hillman S, Ashraf T. Willison C, et al. Among authors: ramachandran v. Prenat Diagn. 2023 Dec;43(13):1674-1677. doi: 10.1002/pd.6485. Epub 2023 Dec 7. Prenat Diagn. 2023. PMID: 38059661

7

Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations.

Martin LJ, Ramachandran V, Cripe LH, Hinton RB, Andelfinger G, Tabangin M, Shooner K, Keddache M, Benson DW. Martin LJ, et al. Among authors: ramachandran v. Hum Genet. 2007 Apr;121(2):275-84. doi: 10.1007/s00439-006-0316-9. Epub 2007 Jan 4. Hum Genet. 2007. PMID: 17203300

8

Carrier frequency of F508del mutation of cystic fibrosis in Indian population.

Kapoor V, Shastri SS, Kabra M, Kabra SK, Ramachandran V, Arora S, Balakrishnan P, Deorari AK, Paul VK. Kapoor V, et al. Among authors: ramachandran v. J Cyst Fibros. 2006 Jan;5(1):43-6. doi: 10.1016/j.jcf.2005.10.002. Epub 2005 Nov 28. J Cyst Fibros. 2006. PMID: 16311077 Free article.

9

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: ramachandran v. 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.

10

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.

Pemberton L, Barker R, Cockell A, Ramachandran V, Haworth A, Homfray T. Pemberton L, et al. Among authors: ramachandran v. BMC Med Genet. 2020 Jan 7;21(1):7. doi: 10.1186/s12881-019-0939-z. BMC Med Genet. 2020. PMID: 31910817 Free PMC article.

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