Cheadle JP - Search Results

1

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A. Cheadle JP, et al. Hum Mol Genet. 2000 Apr 12;9(7):1119-29. doi: 10.1093/hmg/9.7.1119. Hum Mol Genet. 2000. PMID: 10767337

2

Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR. Maheshwar MM, et al. Among authors: cheadle jp. Hum Mol Genet. 1997 Oct;6(11):1991-6. doi: 10.1093/hmg/6.11.1991. Hum Mol Genet. 1997. PMID: 9302281

3

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Jones AC, et al. Among authors: cheadle jp. Hum Mol Genet. 1997 Nov;6(12):2155-61. doi: 10.1093/hmg/6.12.2155. Hum Mol Genet. 1997. PMID: 9328481

4

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC. Sampson JR, et al. Among authors: cheadle jp. Am J Hum Genet. 1997 Oct;61(4):843-51. doi: 10.1086/514888. Am J Hum Genet. 1997. PMID: 9382094 Free PMC article.

5

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Jones AC, et al. Among authors: cheadle jp. Am J Hum Genet. 1999 May;64(5):1305-15. doi: 10.1086/302381. Am J Hum Genet. 1999. PMID: 10205261 Free PMC article. Review.

6

Molecular genetic advances in tuberous sclerosis.

Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ. Cheadle JP, et al. Hum Genet. 2000 Aug;107(2):97-114. doi: 10.1007/s004390000348. Hum Genet. 2000. PMID: 11030407 Review.

7

Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours.

Parry L, Maynard JH, Patel A, Hodges AK, von Deimling A, Sampson JR, Cheadle JP. Parry L, et al. Among authors: cheadle jp. Hum Genet. 2000 Oct;107(4):350-6. doi: 10.1007/s004390000390. Hum Genet. 2000. PMID: 11129334

8

LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures.

Fleming N, Maynard J, Tzitzis L, Sampson JR, Cheadle JP. Fleming N, et al. Among authors: cheadle jp. J Biochem Biophys Methods. 2001 Jan 30;47(1-2):131-6. doi: 10.1016/s0165-022x(00)00159-7. J Biochem Biophys Methods. 2001. PMID: 11179769

9

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.

Hodges AK, Li S, Maynard J, Parry L, Braverman R, Cheadle JP, DeClue JE, Sampson JR. Hodges AK, et al. Among authors: cheadle jp. Hum Mol Genet. 2001 Dec 1;10(25):2899-905. doi: 10.1093/hmg/10.25.2899. Hum Mol Genet. 2001. PMID: 11741833

10

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A. Gill H, et al. Among authors: cheadle jp. J Med Genet. 2003 May;40(5):380-4. doi: 10.1136/jmg.40.5.380. J Med Genet. 2003. PMID: 12746405 Free PMC article. No abstract available.

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