Bissler J - Search Results

1

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. Among authors: bissler j. 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

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. Among authors: bissler j. 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

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

Kozlowski P, Bissler J, Pei Y, Kwiatkowski DJ. Kozlowski P, et al. Among authors: bissler j. Genomics. 2008 Feb;91(2):203-8. doi: 10.1016/j.ygeno.2007.10.003. Epub 2007 Dec 3. Genomics. 2008. PMID: 18060739 Free PMC article.

4

Tuberous sclerosis complex: neurological, renal and pulmonary manifestations.

Franz DN, Bissler JJ, McCormack FX. Franz DN, et al. Among authors: bissler jj. Neuropediatrics. 2010 Oct;41(5):199-208. doi: 10.1055/s-0030-1269906. Epub 2011 Jan 5. Neuropediatrics. 2010. PMID: 21210335 Free PMC article. Review.

5

Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.

Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001. Pediatr Neurol. 2013. PMID: 24053982 Free PMC article.

6

Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.

Krueger DA, Northrup H; International Tuberous Sclerosis Complex Consensus Group. Krueger DA, et al. Pediatr Neurol. 2013 Oct;49(4):255-65. doi: 10.1016/j.pediatrneurol.2013.08.002. Pediatr Neurol. 2013. PMID: 24053983 Free PMC article.

7

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. Among authors: bissler j. 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.

8

Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation.

Wiemer-Kruel A, Mayer H, Ewert P, Martinoff S, Eckstein HH, Kriebel T, Bissler J, Franz D, Bast T. Wiemer-Kruel A, et al. Among authors: bissler j. Neuropediatrics. 2020 Feb;51(1):57-61. doi: 10.1055/s-0039-1694985. Epub 2019 Sep 10. Neuropediatrics. 2020. PMID: 31505689

9

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Among authors: bissler j. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.

10

Tuberous sclerosis complex, mTOR, and the kidney: report of an NIDDK-sponsored workshop.

Henske EP, Rasooly R, Siroky B, Bissler J. Henske EP, et al. Among authors: bissler j. Am J Physiol Renal Physiol. 2014 Feb 1;306(3):F279-83. doi: 10.1152/ajprenal.00525.2013. Epub 2013 Nov 13. Am J Physiol Renal Physiol. 2014. PMID: 24226526 Free PMC article.

Clinical trials based on these discoveries have provided strongly positive therapeutic results in TSC (Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, Schmithorst VJ, Laor T, Brody AS, Bean J, Salisbury S, Franz DN. N Engl J Med 358: 140-1 …

Clinical trials based on these discoveries have provided strongly positive therapeutic results in TSC (Bissler JJ, McCormack FX, Youn …

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