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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1998 | 1 |
1999 | 1 |
2000 | 2 |
2001 | 3 |
2002 | 1 |
2024 | 0 |
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SNP identification, haplotype analysis, and parental origin of mutations in TSC2.
Hum Genet. 2002 Jul;111(1):96-101. doi: 10.1007/s00439-002-0738-y. Epub 2002 Jun 7.
Hum Genet. 2002.
PMID: 12136241
Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.
Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX.
Franz DN, et al.
Am J Respir Crit Care Med. 2001 Aug 15;164(4):661-8. doi: 10.1164/ajrccm.164.4.2011025.
Am J Respir Crit Care Med. 2001.
PMID: 11520734
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Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination.
Dabora SL, Nieto AA, Franz D, Jozwiak S, Van Den Ouweland A, Kwiatkowski DJ.
Dabora SL, et al.
J Med Genet. 2000 Nov;37(11):877-83. doi: 10.1136/jmg.37.11.877.
J Med Genet. 2000.
PMID: 11185073
Free PMC article.
No abstract available.
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Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene.
Roberts PS, Jozwiak S, Kwiatkowski DJ, Dabora SL.
Roberts PS, et al.
J Biochem Biophys Methods. 2001 Jan 30;47(1-2):33-7. doi: 10.1016/s0165-022x(00)00149-4.
J Biochem Biophys Methods. 2001.
PMID: 11179759
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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.
Dabora SL, et al.
Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8.
Am J Hum Genet. 2001.
PMID: 11112665
Free PMC article.
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Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Choy YS, Dabora SL, Hall F, Ramesh V, Niida Y, Franz D, Kasprzyk-Obara J, Reeve MP, Kwiatkowski DJ.
Choy YS, et al.
Ann Hum Genet. 1999 Sep;63(Pt 5):383-91. doi: 10.1046/j.1469-1809.1999.6350383.x.
Ann Hum Genet. 1999.
PMID: 10735580
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Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.
Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ.
Dabora SL, et al.
Ann Hum Genet. 1998 Nov;62(Pt 6):491-504. doi: 10.1046/j.1469-1809.1998.6260491.x.
Ann Hum Genet. 1998.
PMID: 10363127
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