Kastner DL - Search Results

1

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.

Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. Zhou Q, et al. Among authors: kastner dl. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20. Am J Hum Genet. 2012. PMID: 23000145 Free PMC article.

2

The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families.

Pras E, Aksentijevich I, Levy E, Gruberg L, Prosen L, Dean M, Pras M, Kastner DL. Pras E, et al. Among authors: kastner dl. Hum Genet. 1994 Nov;94(5):576-7. doi: 10.1007/BF00211032. Hum Genet. 1994. PMID: 7959700 No abstract available.

3

Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?

Aksentijevich I, Gruberg L, Pras E, Balow JE Jr, Kovo M, Gazit E, Dean M, Pras M, Kastner DL. Aksentijevich I, et al. Among authors: kastner dl. Hum Genet. 1993 Jul;91(6):527-34. doi: 10.1007/BF00205075. Hum Genet. 1993. PMID: 8340105

4

Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

Levy EN, Shen Y, Kupelian A, Kruglyak L, Aksentijevich I, Pras E, Balow JE Jr, Linzer B, Chen X, Shelton DA, Gumucio D, Pras M, Shohat M, Rotter JI, Fischel-Ghodsian N, Richards RI, Kastner DL. Levy EN, et al. Among authors: kastner dl. Am J Hum Genet. 1996 Mar;58(3):523-34. Am J Hum Genet. 1996. PMID: 8644712 Free PMC article.

5

The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases.

Centola M, Aksentijevich I, Kastner DL. Centola M, et al. Among authors: kastner dl. Hum Mol Genet. 1998;7(10):1581-8. doi: 10.1093/hmg/7.10.1581. Hum Mol Genet. 1998. PMID: 9735379 Review.

6

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. Aksentijevich I, et al. Among authors: kastner dl. Am J Hum Genet. 1999 Apr;64(4):949-62. doi: 10.1086/302327. Am J Hum Genet. 1999. PMID: 10090880 Free PMC article.

7

TNFRSF1A mutations and autoinflammatory syndromes.

Galon J, Aksentijevich I, McDermott MF, O'Shea JJ, Kastner DL. Galon J, et al. Among authors: kastner dl. Curr Opin Immunol. 2000 Aug;12(4):479-86. doi: 10.1016/s0952-7915(00)00124-2. Curr Opin Immunol. 2000. PMID: 10899034 Review.

8

Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.

Toro JR, Aksentijevich I, Hull K, Dean J, Kastner DL. Toro JR, et al. Among authors: kastner dl. Arch Dermatol. 2000 Dec;136(12):1487-94. doi: 10.1001/archderm.136.12.1487. Arch Dermatol. 2000. PMID: 11115159

9

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.

Aganna E, Aksentijevich I, Hitman GA, Kastner DL, Hoepelman AI, Posma FD, Zweers EJ, McDermott MF. Aganna E, et al. Among authors: kastner dl. Eur J Hum Genet. 2001 Jan;9(1):63-6. doi: 10.1038/sj.ejhg.5200573. Eur J Hum Genet. 2001. PMID: 11175303

10

A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).

Livneh A, Aksentijevich I, Langevitz P, Torosyan Y, G-Shoham N, Shinar Y, Pras E, Zaks N, Padeh S, Kastner DL, Pras M. Livneh A, et al. Among authors: kastner dl. Eur J Hum Genet. 2001 Mar;9(3):191-6. doi: 10.1038/sj.ejhg.5200608. Eur J Hum Genet. 2001. PMID: 11313758

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