Kwiatkowski DJ - Search Results

1

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?

Moavero R, Kotulska K, Lagae L, Benvenuto A, Emberti Gialloreti L, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Van Schooneveld MM, Samueli S, Maulisovà A, Aronica E, Kwiatkowski DJ, Jansen FE, Jozwiak S, Curatolo P; EPISTOP Consortium. Moavero R, et al. Among authors: kwiatkowski dj. Ann Clin Transl Neurol. 2020 Aug;7(8):1371-1381. doi: 10.1002/acn3.51128. Epub 2020 Jul 23. Ann Clin Transl Neurol. 2020. PMID: 32705817 Free PMC article. Clinical Trial.

2

Clinical, neuropathological and genetic aspects of the tuberous sclerosis complex.

Short MP, Richardson EP Jr, Haines JL, Kwiatkowski DJ. Short MP, et al. Among authors: kwiatkowski dj. Brain Pathol. 1995 Apr;5(2):173-9. doi: 10.1111/j.1750-3639.1995.tb00591.x. Brain Pathol. 1995. PMID: 7670658 Review.

3

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

4

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: kwiatkowski dj. 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.

5

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

6

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.

7

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

8

Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers.

Talos DM, Kwiatkowski DJ, Cordero K, Black PM, Jensen FE. Talos DM, et al. Among authors: kwiatkowski dj. Ann Neurol. 2008 Apr;63(4):454-65. doi: 10.1002/ana.21342. Ann Neurol. 2008. PMID: 18350576 Free PMC article.

9

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.

Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001. Pediatr Neurol. 2013. PMID: 24053982 Free PMC article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

433 results

Search Page