Purandare SM - Search Results

1

Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.

Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI. Bidichandani SI, et al. Among authors: purandare sm. Hum Mol Genet. 1999 Dec;8(13):2425-36. doi: 10.1093/hmg/8.13.2425. Hum Mol Genet. 1999. PMID: 10556290

2

Assignment of big MAP kinase (PRKM7) to human chromosome 17 band p11.2 with somatic cell hybrids.

Purandare SM, Lee JD, Patel PI. Purandare SM, et al. Cytogenet Cell Genet. 1998;83(3-4):258-9. doi: 10.1159/000015199. Cytogenet Cell Genet. 1998. PMID: 10072598 No abstract available.

3

Recombination hot spots and human disease.

Purandare SM, Patel PI. Purandare SM, et al. Genome Res. 1997 Aug;7(8):773-86. doi: 10.1101/gr.7.8.773. Genome Res. 1997. PMID: 9267802 Free article. Review. No abstract available.

4

Definition of the critical interval for Smith-Magenis syndrome.

Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI. Elsea SH, et al. Among authors: purandare sm. Cytogenet Cell Genet. 1997;79(3-4):276-81. doi: 10.1159/000134742. Cytogenet Cell Genet. 1997. PMID: 9605871

5

The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus.

Carrel T, Purandare SM, Harrison W, Elder F, Fox T, Casey B, Herman GE. Carrel T, et al. Among authors: purandare sm. Hum Mol Genet. 2000 Aug 12;9(13):1937-42. doi: 10.1093/hmg/9.13.1937. Hum Mol Genet. 2000. PMID: 10942421

6

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.

Purandare SM, Lanyon WG, Connor JM. Purandare SM, et al. Hum Mol Genet. 1994 Jul;3(7):1109-15. doi: 10.1093/hmg/3.7.1109. Hum Mol Genet. 1994. PMID: 7981679

7

Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.

Purandare SM, Lanyon WG, Arngrimsson R, Connor JM. Purandare SM, et al. Hum Mol Genet. 1995 Apr;4(4):767-8. doi: 10.1093/hmg/4.4.767. Hum Mol Genet. 1995. PMID: 7633431 No abstract available.

8

Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.

Purandare SM, Cawthon R, Nelson LM, Sawada S, Watkins WS, Ward K, Jorde LB, Viskochil DH. Purandare SM, et al. Am J Hum Genet. 1996 Jul;59(1):159-66. Am J Hum Genet. 1996. PMID: 8659521 Free PMC article.

9

Ring chromosome 9 [r(9)(p24q34)]: a report of two cases.

Purandare SM, Lee J, Hassed S, Steele MI, Blackett PR, Mulvihill JJ, Li S. Purandare SM, et al. Am J Med Genet A. 2005 Oct 15;138A(3):229-35. doi: 10.1002/ajmg.a.30382. Am J Med Genet A. 2005. PMID: 16158426

10

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.

Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill JJ. Purandare SM, et al. Am J Med Genet A. 2008 Feb 15;146A(4):453-8. doi: 10.1002/ajmg.a.31750. Am J Med Genet A. 2008. PMID: 18203189 Free PMC article.

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