Carmi R - Search Results

1

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

2

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: carmi r. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118255

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

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

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

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

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

9

A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

Haider NB, Carmi R, Shalev H, Sheffield VC, Landau D. Haider NB, et al. Among authors: carmi r. Am J Hum Genet. 1998 Nov;63(5):1404-10. doi: 10.1086/302108. Am J Hum Genet. 1998. PMID: 9792867 Free PMC article.

10

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: carmi r. Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865. Hum Mol Genet. 2001. PMID: 11285252

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