Bissler JJ - Search Results

1

Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.

Bissler JJ, Tsoras M, Göring HH, Hug P, Chuck G, Tombragel E, McGraw C, Schlotman J, Ralston MA, Hug G. Bissler JJ, et al. Lab Invest. 2002 Mar;82(3):335-44. doi: 10.1038/labinvest.3780427. Lab Invest. 2002. PMID: 11896212 Free article.

2

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis.

Bissler JJ, McCormack FX, Young LR, Elwing JM, Chuck G, Leonard JM, Schmithorst VJ, Laor T, Brody AS, Bean J, Salisbury S, Franz DN. Bissler JJ, et al. N Engl J Med. 2008 Jan 10;358(2):140-51. doi: 10.1056/NEJMoa063564. N Engl J Med. 2008. PMID: 18184959 Free PMC article. Clinical Trial.

3

Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

Zahedi R, Bissler JJ, Davis AE 3rd, Andreadis C, Wisnieski JJ. Zahedi R, et al. Among authors: bissler jj. J Clin Invest. 1995 Mar;95(3):1299-305. doi: 10.1172/JCI117780. J Clin Invest. 1995. PMID: 7883978 Free PMC article.

4

C1 inhibitor gene sequence facilitates frameshift mutations.

Bissler JJ, Meng QS, Emery T. Bissler JJ, et al. Mol Med. 1998 Dec;4(12):795-806. Mol Med. 1998. PMID: 9990865 Free PMC article.

5

C1- inhibitors and their genes: an update.

Donaldson VH, Bissler JJ. Donaldson VH, et al. Among authors: bissler jj. J Lab Clin Med. 1992 Apr;119(4):330-3. J Lab Clin Med. 1992. PMID: 1583381 Review. No abstract available.

6

A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.

Bissler JJ, Cicardi M, Donaldson VH, Gatenby PA, Rosen FS, Sheffer AL, Davis AE 3rd. Bissler JJ, et al. Proc Natl Acad Sci U S A. 1994 Sep 27;91(20):9622-5. doi: 10.1073/pnas.91.20.9622. Proc Natl Acad Sci U S A. 1994. PMID: 7937817 Free PMC article.

7

Antibody to C1-inhibitor in a patient receiving C1-inhibitor infusions for treatment of hereditary angioneurotic edema with systemic lupus erythematosus reacts with a normal allotype of residue 458 of C1-inhibitor.

Donaldson VH, Bissler JJ, Welch TR, Burton MF, Davis AE 3rd. Donaldson VH, et al. Among authors: bissler jj. J Lab Clin Med. 1996 Oct;128(4):438-43. doi: 10.1016/s0022-2143(96)80017-5. J Lab Clin Med. 1996. PMID: 8833894

8

DNA inverted repeats and human disease.

Bissler JJ. Bissler JJ. Front Biosci. 1998 Mar 27;3:d408-18. doi: 10.2741/a284. Front Biosci. 1998. PMID: 9516381 Review.

9

Molecular defects in hereditary angioneurotic edema.

Bissler JJ, Aulak KS, Donaldson VH, Rosen FS, Cicardi M, Harrison RA, Davis AE 3rd. Bissler JJ, et al. Proc Assoc Am Physicians. 1997 Mar;109(2):164-73. Proc Assoc Am Physicians. 1997. PMID: 9069585

10

Contiguous deletion and duplication mutations resulting in type 1 hereditary angioneurotic edema.

Bissler JJ, Donaldson VH, Davis AE 3rd. Bissler JJ, et al. Hum Genet. 1994 Mar;93(3):265-9. doi: 10.1007/BF00212020. Hum Genet. 1994. PMID: 8125476

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