Carmi R - Search Results

1

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: carmi r. Am J Hum Genet. 1995 Oct;57(4):965-8. Am J Hum Genet. 1995. PMID: 7573061 Free PMC article. No abstract available.

2

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: carmi r. Am J Hum Genet. 1996 Aug;59(2):385-91. Am J Hum Genet. 1996. PMID: 8755925 Free PMC article.

3

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: carmi r. 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.

4

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: carmi r. Nat Genet. 1993 Dec;5(4):392-6. doi: 10.1038/ng1293-392. Nat Genet. 1993. PMID: 8298649

5

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. Am J Med Genet. 1995 Nov 6;59(2):199-203. doi: 10.1002/ajmg.1320590216. Am J Med Genet. 1995. PMID: 8588586

6

Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.

Walder RY, Shalev H, Brennan TM, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC. Walder RY, et al. Among authors: carmi r. Hum Mol Genet. 1997 Sep;6(9):1491-7. doi: 10.1093/hmg/6.9.1491. Hum Mol Genet. 1997. PMID: 9285786

7

Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.

Brennan TM, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R, Sheffield VC. Brennan TM, et al. Among authors: carmi r. Am J Hum Genet. 1998 Feb;62(2):355-61. doi: 10.1086/301708. Am J Hum Genet. 1998. PMID: 9463315 Free PMC article.

8

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA, Kraft ML, Carmi R, Ramesh A, Elbedour K, Yairi Y, Srisailapathy CR, Rosengren SS, Markham AF, Mueller RF, Lench NJ, Van Camp G, Smith RJ, Sheffield VC. Scott DA, et al. Among authors: carmi r. Hum Mutat. 1998;11(5):387-94. doi: 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8. Hum Mutat. 1998. PMID: 9600457

9

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

Parvari R, Hershkovitz E, Kanis A, Gorodischer R, Shalitin S, Sheffield VC, Carmi R. Parvari R, et al. Among authors: carmi r. Am J Hum Genet. 1998 Jul;63(1):163-9. doi: 10.1086/301915. Am J Hum Genet. 1998. PMID: 9634513 Free PMC article.

10

Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation.

Heaney C, Shalev H, Elbedour K, Carmi R, Staack JB, Sheffield VC, Beier DR. Heaney C, et al. Among authors: carmi r. Hum Mol Genet. 1998 Sep;7(9):1407-10. doi: 10.1093/hmg/7.9.1407. Hum Mol Genet. 1998. PMID: 9700194

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