Kwiatkowski DJ - Search Results

1

Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period.

Korotkov A, Luinenburg MJ, Romagnolo A, Zimmer TS, van Scheppingen J, Bongaarts A, Broekaart DWM, Anink JJ, Mijnsbergen C, Jansen FE, van Hecke W, Spliet WG, van Rijen PC, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Crino PB, Kotulska K, Lagae L, Jansen AC, Kwiatkowski DJ, Jozwiak S, Curatolo P, Mühlebner A, van Vliet EA, Mills JD, Aronica E. Korotkov A, et al. Among authors: kwiatkowski dj. J Neurodev Disord. 2022 Jan 15;14(1):8. doi: 10.1186/s11689-022-09416-2. J Neurodev Disord. 2022. PMID: 35030990 Free PMC article.

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

Tuberous sclerosis.

Kwiatkowski DJ, Short MP. Kwiatkowski DJ, et al. Arch Dermatol. 1994 Mar;130(3):348-54. Arch Dermatol. 1994. PMID: 8129414 Review.

5

Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, van Slegtenhorst M, Welsh CT, Kwiatkowski DJ. Henske EP, et al. Among authors: kwiatkowski dj. Am J Hum Genet. 1996 Aug;59(2):400-6. Am J Hum Genet. 1996. PMID: 8755927 Free PMC article.

6

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

7

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, Kwiatkowski DJ. Kwiatkowska J, et al. Among authors: kwiatkowski dj. Ann Hum Genet. 1998 Jul;62(Pt 4):277-85. doi: 10.1046/j.1469-1809.1998.6240277.x. Ann Hum Genet. 1998. PMID: 9924605

8

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.

9

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

10

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.

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