Franz DN - Search Results

1

SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ. Roberts PS, et al. Among authors: franz dn. Hum Genet. 2002 Jul;111(1):96-101. doi: 10.1007/s00439-002-0738-y. Epub 2002 Jun 7. Hum Genet. 2002. PMID: 12136241

2

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ. Dabora SL, et al. Am J Hum Genet. 2002 Oct;71(4):750-8. doi: 10.1086/342718. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192641 Free PMC article.

3

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. 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

4

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Qin W, et al. Hum Genet. 2010 Mar;127(5):573-82. doi: 10.1007/s00439-010-0801-z. Epub 2010 Feb 18. Hum Genet. 2010. PMID: 20165957 Free PMC article.

5

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR. Kwiatkowski DJ, et al. Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782670 Free PMC article. Clinical Trial.

6

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

Qin W, Chan JA, Vinters HV, Mathern GW, Franz DN, Taillon BE, Bouffard P, Kwiatkowski DJ. Qin W, et al. Among authors: franz dn. Brain Pathol. 2010 Nov;20(6):1096-105. doi: 10.1111/j.1750-3639.2010.00416.x. Epub 2010 Jul 13. Brain Pathol. 2010. PMID: 20633017 Free PMC article.

7

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Tyburczy ME, et al. Among authors: franz dn. PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov. PLoS Genet. 2015. PMID: 26540169 Free PMC article.

8

Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

Choy YS, Dabora SL, Hall F, Ramesh V, Niida Y, Franz D, Kasprzyk-Obara J, Reeve MP, Kwiatkowski DJ. Choy YS, et al. Ann Hum Genet. 1999 Sep;63(Pt 5):383-91. doi: 10.1046/j.1469-1809.1999.6350383.x. Ann Hum Genet. 1999. PMID: 10735580

9

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: franz dn. 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.

10

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: franz dn. 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.

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