Hegde M - Search Results

1

Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy.

Skinner JR, Chong B, Fawkner M, Webster DR, Hegde M. Skinner JR, et al. Among authors: hegde m. J Paediatr Child Health. 2004 Nov;40(11):651-3. doi: 10.1111/j.1440-1754.2004.00498.x. J Paediatr Child Health. 2004. PMID: 15469540

2

Compound heterozygosity at the FMR1 gene.

Hegde MR, Fawkner M, Chong B, McGaughran J, Gilbert D, Love DR. Hegde MR, et al. Genet Test. 2001 Summer;5(2):135-8. doi: 10.1089/109065701753145600. Genet Test. 2001. PMID: 11551100

3

Hierarchical mutation screening protocol for the BRCA1 gene.

Hegde MR, Chong B, Fawkner MJ, Leary J, Shelling AN, Culling B, Winship I, Love DR. Hegde MR, et al. Hum Mutat. 2000 Nov;16(5):422-30. doi: 10.1002/1098-1004(200011)16:5<422::AID-HUMU7>3.0.CO;2-3. Hum Mutat. 2000. PMID: 11058900

4

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D; International Hyperphosphatasia Collaborative Group. Chong B, et al. Among authors: hegde m. J Bone Miner Res. 2003 Dec;18(12):2095-104. doi: 10.1359/jbmr.2003.18.12.2095. J Bone Miner Res. 2003. PMID: 14672344 Free article.

5

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.

Cundy T, Hegde M, Naot D, Chong B, King A, Wallace R, Mulley J, Love DR, Seidel J, Fawkner M, Banovic T, Callon KE, Grey AB, Reid IR, Middleton-Hardie CA, Cornish J. Cundy T, et al. Among authors: hegde m. Hum Mol Genet. 2002 Sep 1;11(18):2119-27. doi: 10.1093/hmg/11.18.2119. Hum Mol Genet. 2002. PMID: 12189164

6

Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy.

Hegde MR, Chong B, Stevenson C, Laing NG, Khadilkar S, Love DR. Hegde MR, et al. Indian J Med Res. 2001 Oct;114:141-7. Indian J Med Res. 2001. PMID: 11921836

7

Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.

Wu G, Wu W, Hegde M, Fawkner M, Chong B, Love D, Su LK, Lynch P, Snow K, Richards CS. Wu G, et al. Among authors: hegde m. Genet Test. 2001 Winter;5(4):281-90. doi: 10.1089/109065701753617408. Genet Test. 2001. PMID: 11960572

8

Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification.

Hegde MR, Chong B, Fawkner M, Lambiris N, Peters H, Kenneson A, Warren ST, Love DR, McGaughran J. Hegde MR, et al. J Med Genet. 2001 Sep;38(9):624-9. doi: 10.1136/jmg.38.9.624. J Med Genet. 2001. PMID: 11565550 Free PMC article. No abstract available.

9

A homozygous mutation in MSH6 causes Turcot syndrome.

Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS. Hegde MR, et al. Clin Cancer Res. 2005 Jul 1;11(13):4689-93. doi: 10.1158/1078-0432.CCR-04-2025. Clin Cancer Res. 2005. PMID: 16000562

10

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

Hegde M, Blazo M, Chong B, Prior T, Richards C. Hegde M, et al. J Mol Diagn. 2005 Oct;7(4):525-34. doi: 10.1016/S1525-1578(10)60584-3. J Mol Diagn. 2005. PMID: 16237223 Free PMC article.

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