Jozwiak S - Search Results

1

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.

Klonowska K, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ. Klonowska K, et al. Among authors: jozwiak s. Am J Hum Genet. 2023 Jun 1;110(6):979-988. doi: 10.1016/j.ajhg.2023.04.002. Epub 2023 May 3. Am J Hum Genet. 2023. PMID: 37141891 Free PMC article.

2

SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ. Roberts PS, et al. Among authors: jozwiak s. Hum Genet. 2002 Jul;111(1):96-101. doi: 10.1007/s00439-002-0738-y. Epub 2002 Jun 7. Hum Genet. 2002. PMID: 12136241

3

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ. Dabora SL, et al. Among authors: jozwiak s. Am J Hum Genet. 2002 Oct;71(4):750-8. doi: 10.1086/342718. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192641 Free PMC article.

4

Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis.

Jóźwiak S, Kwiatkowski D, Kotulska K, Larysz-Brysz M, Lewin-Kowalik J, Grajkowska W, Roszkowski M. Jóźwiak S, et al. J Child Neurol. 2004 Feb;19(2):102-6. doi: 10.1177/08830738040190020401. J Child Neurol. 2004. PMID: 15072102

5

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ. Chan JA, et al. Among authors: jozwiak s. J Neuropathol Exp Neurol. 2004 Dec;63(12):1236-42. doi: 10.1093/jnen/63.12.1236. J Neuropathol Exp Neurol. 2004. PMID: 15624760

6

Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmation.

Jóźwiak S, Domańska-Pakieła D, Kwiatkowski DJ, Kotulska K. Jóźwiak S, et al. J Child Neurol. 2005 Dec;20(12):988-9. doi: 10.1177/08830738050200121101. J Child Neurol. 2005. PMID: 16417848

7

Epidermal nevus syndrome and intraspinal hemorrhage.

Kotulska K, Jurkiewcz E, Jóźwiak S, Kuczyński D. Kotulska K, et al. Among authors: jozwiak s. Brain Dev. 2006 Sep;28(8):541-3. doi: 10.1016/j.braindev.2006.02.007. Epub 2006 Apr 17. Brain Dev. 2006. PMID: 16616999

8

Similarity of balloon cells in focal cortical dysplasia to giant cells in tuberous sclerosis.

Jozwiak J, Kotulska K, Jozwiak S. Jozwiak J, et al. Among authors: jozwiak s. Epilepsia. 2006 Apr;47(4):805. doi: 10.1111/j.1528-1167.2006.00531_1.x. Epilepsia. 2006. PMID: 16650151 Free article. No abstract available.

9

Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex.

Jóźwiak S, Kotulska K, Kasprzyk-Obara J, Domańska-Pakieła D, Tomyn-Drabik M, Roberts P, Kwiatkowski D. Jóźwiak S, et al. Pediatrics. 2006 Oct;118(4):e1146-51. doi: 10.1542/peds.2006-0504. Epub 2006 Aug 28. Pediatrics. 2006. PMID: 16940165

10

Are all prenatally diagnosed multiple cardiac rhabdomyomas a sign of tuberous sclerosis?

Jóźwiak S, Kotulska K. Jóźwiak S, et al. Prenat Diagn. 2006 Sep;26(9):867-9. doi: 10.1002/pd.1506. Prenat Diagn. 2006. PMID: 16941504 Review. No abstract available.

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