Kwiatkowski DJ - Search Results

1

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

Treichel AM, Hamieh L, Nathan NR, Tyburczy ME, Wang JA, Oyerinde O, Raiciulescu S, Julien-Williams P, Jones AM, Gopalakrishnan V, Moss J, Kwiatkowski DJ, Darling TN. Treichel AM, et al. Among authors: kwiatkowski dj. Genet Med. 2019 Nov;21(11):2594-2604. doi: 10.1038/s41436-019-0520-3. Epub 2019 May 22. Genet Med. 2019. PMID: 31114024 Free PMC article.

2

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.

Henske EP, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ. Henske EP, et al. Among authors: kwiatkowski dj. Genes Chromosomes Cancer. 1995 Aug;13(4):295-8. doi: 10.1002/gcc.2870130411. Genes Chromosomes Cancer. 1995. PMID: 7547639

3

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.

4

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

5

Tuberous sclerosis.

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

6

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.

7

Cloning and evaluation of RALGDS as a candidate for the tuberous sclerosis gene TSC1.

Humphrey D, Kwiatkowska J, Henske EP, Haines JL, Halley D, van Slegtenhorst M, Kwiatkowski DJ. Humphrey D, et al. Among authors: kwiatkowski dj. Ann Hum Genet. 1997 Jul;61(Pt 4):299-305. doi: 10.1046/j.1469-1809.1997.6140299.x. Ann Hum Genet. 1997. PMID: 9365783

8

Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis.

Kwiatkowska J, Wigowska-Sowinska J, Napierala D, Slomski R, Kwiatkowski DJ. Kwiatkowska J, et al. Among authors: kwiatkowski dj. N Engl J Med. 1999 Mar 4;340(9):703-7. doi: 10.1056/NEJM199903043400905. N Engl J Med. 1999. PMID: 10053179 Free article. No abstract available.

9

Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ. Dabora SL, et al. Among authors: kwiatkowski dj. Ann Hum Genet. 1998 Nov;62(Pt 6):491-504. doi: 10.1046/j.1469-1809.1998.6260491.x. Ann Hum Genet. 1998. PMID: 10363127

10

Molecular genetic advances in tuberous sclerosis.

Cheadle JP, Reeve MP, Sampson JR, Kwiatkowski DJ. Cheadle JP, et al. Among authors: kwiatkowski dj. Hum Genet. 2000 Aug;107(2):97-114. doi: 10.1007/s004390000348. Hum Genet. 2000. PMID: 11030407 Review.

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