Kwiatkowski DJ - Search Results

1

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study.

Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, Riney K, Jansen FE, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Hulshof H, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Lagae L, Jozwiak S, Curatolo P. Moavero R, et al. Among authors: kwiatkowski dj. J Clin Med. 2019 Jun 3;8(6):788. doi: 10.3390/jcm8060788. J Clin Med. 2019. PMID: 31163675 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

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: kwiatkowski dj. Genomics. 1997 Sep 15;44(3):350-4. doi: 10.1006/geno.1997.4874. Genomics. 1997. PMID: 9325058

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

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.

9

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.

10

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.

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