Jozwiak S - Search Results

1

Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1.

Henske EP, Short MP, Jozwiak S, Bovey CM, Ramlakhan S, Haines JL, Kwiatkowski DJ. Henske EP, et al. Among authors: jozwiak s. Ann Hum Genet. 1995 Jan;59(1):25-37. doi: 10.1111/j.1469-1809.1995.tb01603.x. Ann Hum Genet. 1995. PMID: 7762982

2

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. Among authors: jozwiak s. 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.

3

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

Wilson PJ, Ramesh V, Kristiansen A, Bove C, Jozwiak S, Kwiatkowski DJ, Short MP, Haines JL. Wilson PJ, et al. Among authors: jozwiak s. Hum Mol Genet. 1996 Feb;5(2):249-56. doi: 10.1093/hmg/5.2.249. Hum Mol Genet. 1996. PMID: 8824881

4

Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1.

Kwiatkowska J, Slomski R, Jozwiak S, Short MP, Kwiatkowski DJ. Kwiatkowska J, et al. Among authors: jozwiak s. Genomics. 1997 Sep 15;44(3):350-4. doi: 10.1006/geno.1997.4874. Genomics. 1997. PMID: 9325058

5

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, Kwiatkowski DJ. Kwiatkowska J, et al. Among authors: jozwiak s. Ann Hum Genet. 1998 Jul;62(Pt 4):277-85. doi: 10.1046/j.1469-1809.1998.6240277.x. Ann Hum Genet. 1998. PMID: 9924605

6

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. Among authors: jozwiak s. 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

7

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.

Roberts PS, Dabora S, Thiele EA, Franz DN, Jozwiak S, Kwiatkowski DJ. Roberts PS, et al. Among authors: jozwiak s. J Med Genet. 2004 May;41(5):e69. doi: 10.1136/jmg.2003.014126. J Med Genet. 2004. PMID: 15121797 Free PMC article. No abstract available.

8

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. van Slegtenhorst M, et al. Among authors: jozwiak s. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607

9

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Among authors: jozwiak s. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.

10

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. Among authors: jozwiak s. 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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