Franz DN - Search Results

1

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.

2

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

3

Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination.

Dabora SL, Nieto AA, Franz D, Jozwiak S, Van Den Ouweland A, Kwiatkowski DJ. Dabora SL, et al. J Med Genet. 2000 Nov;37(11):877-83. doi: 10.1136/jmg.37.11.877. J Med Genet. 2000. PMID: 11185073 Free PMC article. No abstract available.

4

Autism and the cerebellum: evidence from tuberous sclerosis.

Weber AM, Egelhoff JC, McKellop JM, Franz DN. Weber AM, et al. Among authors: franz dn. J Autism Dev Disord. 2000 Dec;30(6):511-7. doi: 10.1023/a:1005679108529. J Autism Dev Disord. 2000. PMID: 11261463 No abstract available.

5

Lamotrigine therapy of epilepsy in tuberous sclerosis.

Franz DN, Tudor C, Leonard J, Egelhoff JC, Byars A, Valerius K, Sethuraman G. Franz DN, et al. Epilepsia. 2001 Jul;42(7):935-40. doi: 10.1046/j.1528-1157.2001.042007935.x. Epilepsia. 2001. PMID: 11488895 Free article. Clinical Trial.

6

Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.

Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX. Franz DN, et al. Am J Respir Crit Care Med. 2001 Aug 15;164(4):661-8. doi: 10.1164/ajrccm.164.4.2011025. Am J Respir Crit Care Med. 2001. PMID: 11520734

7

Pulmonary cysts consistent with lymphangioleiomyomatosis are common in women with tuberous sclerosis: genetic and radiographic analysis.

McCormack F, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, Franz DN. McCormack F, et al. Among authors: franz dn. Chest. 2002 Mar;121(3 Suppl):61S. Chest. 2002. PMID: 11893688 No abstract available.

8

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

9

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.

10

Supratentorial tuber location and autism in tuberous sclerosis complex.

Walz NC, Byars AW, Egelhoff JC, Franz DN. Walz NC, et al. Among authors: franz dn. J Child Neurol. 2002 Nov;17(11):830-2. doi: 10.1177/08830738020170111401. J Child Neurol. 2002. PMID: 12585723

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