Kwiatkowska J - Search Results

1

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: kwiatkowska j. 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

2

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

3

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. 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

4

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. 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.

5

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. van Slegtenhorst M, et al. Among authors: kwiatkowska j. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607

6

Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.

Niemann-Seyde S, Slomski R, Rininsland F, Ellermeyer U, Kwiatkowska J, Reiss J. Niemann-Seyde S, et al. Among authors: kwiatkowska j. Hum Genet. 1992 Sep-Oct;90(1-2):65-70. doi: 10.1007/BF00210746. Hum Genet. 1992. PMID: 1427789

7

Prevalence of beta allele of the insulin gene in type II diabetes mellitus.

Horst-Sikorska W, Zoll B, Kwiatkowska J, Willms B, Kraszewski A, Horst A, Slomski R. Horst-Sikorska W, et al. Among authors: kwiatkowska j. Hum Genet. 1994 Mar;93(3):325-8. doi: 10.1007/BF00212031. Hum Genet. 1994. PMID: 8125485

8

[DMD gene--the largest human gene].

Kwiatkowska J, Słomski R. Kwiatkowska J, et al. Postepy Biochem. 1992;38(2):49-55. Postepy Biochem. 1992. PMID: 1461839 Review. Polish. No abstract available.

9

[Molecular diagnostics: sequence or signal amplification?].

Słomski R, Kwiatkowska J. Słomski R, et al. Among authors: kwiatkowska j. Postepy Biochem. 1995;41(4):220-9. Postepy Biochem. 1995. PMID: 8851138 Review. Polish. No abstract available.

10

Deletion screening and carrier detection in Duchenne muscular dystrophy in Polish population via direct analysis of DNA and RNA transcripts.

Kwiatkowska J, Lisiecka D, Sowinska J, Marszal E, Emich-Widera E, Ciesielski T, Szczególa-Przymusiak A, Nuc P, Chlebowska H, Zimowski J, Galas-Zgorzalewicz B, Slomski R. Kwiatkowska J, et al. Biochimie. 1997 Jul;79(7):439-48. doi: 10.1016/s0300-9084(97)86154-8. Biochimie. 1997. PMID: 9352094

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