Kwiatkowski DJ - 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: kwiatkowski dj. Biomedicines. 2022 Jul 29;10(8):1838. doi: 10.3390/biomedicines10081838. Biomedicines. 2022. PMID: 36009385 Free PMC article.

2

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: kwiatkowski dj. Ann Hum Genet. 1995 Jan;59(1):25-37. doi: 10.1111/j.1469-1809.1995.tb01603.x. Ann Hum Genet. 1995. PMID: 7762982

3

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: kwiatkowski dj. 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

4

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: kwiatkowski dj. 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.

5

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Kozlowski P, et al. Among authors: kwiatkowski dj. Hum Genet. 2007 May;121(3-4):389-400. doi: 10.1007/s00439-006-0308-9. Epub 2007 Feb 8. Hum Genet. 2007. PMID: 17287951

6

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

Krueger DA, Northrup H; International Tuberous Sclerosis Complex Consensus Group. Krueger DA, et al. Pediatr Neurol. 2013 Oct;49(4):255-65. doi: 10.1016/j.pediatrneurol.2013.08.002. Pediatr Neurol. 2013. PMID: 24053983 Free PMC article.

7

Renal cell carcinoma in tuberous sclerosis complex.

Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. Yang P, et al. Among authors: kwiatkowski dj. Am J Surg Pathol. 2014 Jul;38(7):895-909. doi: 10.1097/PAS.0000000000000237. Am J Surg Pathol. 2014. PMID: 24832166 Free PMC article.

8

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

Tyburczy ME, Jozwiak S, Malinowska IA, Chekaluk Y, Pugh TJ, Wu CL, Nussbaum RL, Seepo S, Dzik T, Kotulska K, Kwiatkowski DJ. Tyburczy ME, et al. Among authors: kwiatkowski dj. Hum Mol Genet. 2015 Apr 1;24(7):1836-42. doi: 10.1093/hmg/ddu597. Epub 2014 Nov 28. Hum Mol Genet. 2015. PMID: 25432535 Free PMC article.

9

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR. Kwiatkowski DJ, et al. Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782670 Free PMC article. Clinical Trial.

10

Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.

Malik AR, Liszewska E, Skalecka A, Urbanska M, Iyer AM, Swiech LJ, Perycz M, Parobczak K, Pietruszka P, Zarebska MM, Macias M, Kotulska K, Borkowska J, Grajkowska W, Tyburczy ME, Jozwiak S, Kwiatkowski DJ, Aronica E, Jaworski J. Malik AR, et al. Among authors: kwiatkowski dj. Acta Neuropathol Commun. 2015 Jul 30;3:48. doi: 10.1186/s40478-015-0225-z. Acta Neuropathol Commun. 2015. PMID: 26220190 Free PMC article.

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