Reish O - Search Results

1

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ. Desir J, et al. Among authors: reish o. J Med Genet. 2007 May;44(5):322-6. doi: 10.1136/jmg.2006.046904. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220209 Free PMC article.

2

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Hoornaert KP, et al. Among authors: reish o. Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179744 Free PMC article.

3

Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.

Fullston T, Finnis M, Hackett A, Hodgson B, Brueton L, Baynam G, Norman A, Reish O, Shoubridge C, Gecz J. Fullston T, et al. Among authors: reish o. Clin Genet. 2011 Dec;80(6):510-22. doi: 10.1111/j.1399-0004.2011.01685.x. Epub 2011 May 18. Clin Genet. 2011. PMID: 21496008

4

Frequencies of C282Y and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a change of concept required.

Reish O, Shefer-Kaufmann N, Shimshoni DC, Renbaum P, Orr-Urtreger A, Steiner H, Rapoport M, Levy-Lahad E, Altarescu G. Reish O, et al. Genet Med. 2010 Feb;12(2):122-5. doi: 10.1097/GIM.0b013e3181cb78d6. Genet Med. 2010. PMID: 20084012 Free article.

5

Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling.

Regev M, Kirk R, Mashevich M, Bistritzer Z, Reish O. Regev M, et al. Among authors: reish o. Am J Med Genet A. 2008 Sep 15;146A(18):2332-6. doi: 10.1002/ajmg.a.32330. Am J Med Genet A. 2008. PMID: 18688870

6

Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome.

Reish O, Berry SA, Hirsch B. Reish O, et al. Am J Med Genet. 1995 Dec 4;59(4):467-75. doi: 10.1002/ajmg.1320590413. Am J Med Genet. 1995. PMID: 8585567

7

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.

Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM. Reish O, et al. Ann Hum Genet. 2010 Mar;74(2):117-25. doi: 10.1111/j.1469-1809.2009.00559.x. Epub 2010 Jan 8. Ann Hum Genet. 2010. PMID: 20070851 Free PMC article.

8

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome?

Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA. Reish O, et al. Am J Med Genet. 1997 Feb 11;68(4):386-90. doi: 10.1002/(sici)1096-8628(19970211)68:4<386::aid-ajmg2>3.0.co;2-k. Am J Med Genet. 1997. PMID: 9021007

9

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.

Reish O, Borochowitz ZU, Adir V, Shohat M, Karpati M, Shtorch A, Orr-Urtreger A, Yaron Y, Shalev S, Fares F, Gershoni-Baruch R, Falik-Zaccai TC, Chapman-Shimshoni D. Reish O, et al. Genet Med. 2009 Feb;11(2):101-3. doi: 10.1097/GIM.0b013e31818efd59. Genet Med. 2009. PMID: 19265749 Free article.

10

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.

Reish O, Fullston T, Regev M, Heyman E, Gecz J. Reish O, et al. Am J Med Genet A. 2009 Aug;149A(8):1655-60. doi: 10.1002/ajmg.a.32842. Am J Med Genet A. 2009. PMID: 19606478

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