Elbedour K - Search Results

1

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC. Carmi R, et al. Among authors: elbedour k. Hum Mol Genet. 1995 Jan;4(1):9-13. doi: 10.1093/hmg/4.1.9. Hum Mol Genet. 1995. PMID: 7711739

2

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM. Sheffield VC, et al. Among authors: elbedour k. Hum Mol Genet. 1994 Aug;3(8):1331-5. doi: 10.1093/hmg/3.8.1331. Hum Mol Genet. 1994. PMID: 7987310

3

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC. Kwitek-Black AE, et al. Among authors: elbedour k. Nat Genet. 1993 Dec;5(4):392-6. doi: 10.1038/ng1293-392. Nat Genet. 1993. PMID: 8298649

4

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

Carmi R, Elbedour K, Stone EM, Sheffield VC. Carmi R, et al. Among authors: elbedour k. Am J Med Genet. 1995 Nov 6;59(2):199-203. doi: 10.1002/ajmg.1320590216. Am J Med Genet. 1995. PMID: 8588586

5

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Scott DA, Carmi R, Elbedour K, Yosefsberg S, Stone EM, Sheffield VC. Scott DA, et al. Among authors: elbedour k. Am J Hum Genet. 1996 Aug;59(2):385-91. Am J Hum Genet. 1996. PMID: 8755925 Free PMC article.

6

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: elbedour k. Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865. Hum Mol Genet. 2001. PMID: 11285252

7

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC. Chiang AP, et al. Among authors: elbedour k. Am J Hum Genet. 2004 Sep;75(3):475-84. doi: 10.1086/423903. Epub 2004 Jul 16. Am J Hum Genet. 2004. PMID: 15258860 Free PMC article.

8

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13.

Narkis G, Landau D, Manor E, Elbedour K, Tzemach A, Fishelson M, Geiger D, Ofir R, Carmi R, Birk OS. Narkis G, et al. Among authors: elbedour k. Am J Med Genet A. 2004 Oct 15;130A(3):272-6. doi: 10.1002/ajmg.a.30266. Am J Med Genet A. 2004. PMID: 15378541

9

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.

Scott DA, Carmi R, Elbedour K, Duyk GM, Stone EM, Sheffield VC. Scott DA, et al. Among authors: elbedour k. Am J Hum Genet. 1995 Oct;57(4):965-8. Am J Hum Genet. 1995. PMID: 7573061 Free PMC article. No abstract available.

10

Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.

Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R. Elbedour K, et al. Am J Med Genet. 1994 Aug 15;52(2):164-9. doi: 10.1002/ajmg.1320520208. Am J Med Genet. 1994. PMID: 7802002 Review.

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