Reish O - Search Results

1

Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].

Zafer E, Meck J, Gerrad L, Pras E, Frydman M, Reish O, Avni I, Pras E. Zafer E, et al. Among authors: reish o. Mol Vis. 2008 Mar 14;14:530-2. Mol Vis. 2008. PMID: 18385787 Free PMC article.

2

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, Morad Y, Reznik-Wolf H, Pras E. Pras E, et al. Among authors: reish o. Mol Vis. 2009 Aug 28;15:1709-16. Mol Vis. 2009. PMID: 19718270 Free PMC article.

3

Prenatal diagnosis of sex chromosome abnormalities: the 8-year experience of a single medical center.

Vaknin Z, Reish O, Ben-Ami I, Heyman E, Herman A, Maymon R. Vaknin Z, et al. Among authors: reish o. Fetal Diagn Ther. 2008;23(1):76-81. doi: 10.1159/000109231. Epub 2007 Oct 9. Fetal Diagn Ther. 2008. PMID: 17934303

4

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

5

Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX.

Reish O, Berryman T, Cunningham TR, Sher C, Oetting WS. Reish O, et al. Chromosome Res. 2004;12(2):125-32. doi: 10.1023/b:chro.0000013164.56757.bd. Chromosome Res. 2004. PMID: 15053482

6

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

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

Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene.

Pode-Shakked B, Reish O, Aktuglu-Zeybek C, Kesselman D, Dekel B, Bujanover Y, Anikster Y. Pode-Shakked B, et al. Among authors: reish o. J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):57-60. doi: 10.1097/MPG.0000000000000114. J Pediatr Gastroenterol Nutr. 2014. PMID: 24048166

9

Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

Feingold-Zadok M, Chitayat D, Chong K, Injeyan M, Shannon P, Chapmann D, Maymon R, Pillar N, Reish O. Feingold-Zadok M, et al. Among authors: reish o. Prenat Diagn. 2017 Feb;37(2):144-150. doi: 10.1002/pd.4977. Epub 2017 Jan 25. Prenat Diagn. 2017. PMID: 27933661

10

Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks.

Reish O, Huber C, Altarescu G, Chapman-Shimshoni D, Levy-Lahad E, Renbaum P, Mashevich M, Munnich A, Cormier-Daire V. Reish O, et al. Am J Med Genet A. 2010 Sep;152A(9):2230-5. doi: 10.1002/ajmg.a.33563. Am J Med Genet A. 2010. PMID: 20683993

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