Jozwiak S - Search Results

1

miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.

Scheper M, Romagnolo A, Besharat ZM, Iyer AM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Petrak B, Maulisova A, Nabbout R, Jansen AC, Jansen FE, Lagae L, Urbanska M, Ferretti E, Tempes A, Blazejczyk M, Jaworski J, Kwiatkowski DJ, Jozwiak S, Kotulska K, Sadowski K, Borkowska J, Curatolo P, Mills JD, Aronica E, Epistop Consortium Members. Scheper M, et al. Among authors: jozwiak s. Biomedicines. 2022 Jul 29;10(8):1838. doi: 10.3390/biomedicines10081838. Biomedicines. 2022. PMID: 36009385 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

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

4

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

5

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

6

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

7

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.

8

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

9

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.

10

Upregulation of the WNT pathway in tuberous sclerosis-associated subependymal giant cell astrocytomas.

Jozwiak J, Kotulska K, Grajkowska W, Jozwiak S, Zalewski W, Oldak M, Lojek M, Rainko K, Maksym R, Lazarczyk M, Skopinski P, Wlodarski P. Jozwiak J, et al. Among authors: jozwiak s. Brain Dev. 2007 Jun;29(5):273-80. doi: 10.1016/j.braindev.2006.09.009. Epub 2006 Oct 27. Brain Dev. 2007. PMID: 17071037

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