Shalev S - Search Results

1

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Robitaille JM, et al. Among authors: shalev s. JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. JAMA Ophthalmol. 2014. PMID: 25124931

2

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.

Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T. Nevet MJ, et al. Among authors: shalev sa. J Med Genet. 2010 Aug;47(8):533-7. doi: 10.1136/jmg.2009.073619. Epub 2010 May 27. J Med Genet. 2010. PMID: 20507925

3

A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.

Shalev SA, Sprecher E, Indelman M, Hujirat Y, Bergman R, Rottem M. Shalev SA, et al. Int Arch Allergy Immunol. 2007;143(3):190-3. doi: 10.1159/000099311. Epub 2007 Feb 6. Int Arch Allergy Immunol. 2007. PMID: 17284928

4

Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

Gal M, Levanon EY, Hujeirat Y, Khayat M, Pe'er J, Shalev S. Gal M, et al. Among authors: shalev s. Am J Med Genet A. 2014 Dec;164A(12):2996-3002. doi: 10.1002/ajmg.a.36739. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25250762

5

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis.

Horovitz Y, Tanous O, Khayat M, Shaker M, Shalev S, Spiegel R. Horovitz Y, et al. Among authors: shalev s. Int J Rheum Dis. 2018 Mar;21(3):755-760. doi: 10.1111/1756-185X.12906. Epub 2016 Jun 16. Int J Rheum Dis. 2018. PMID: 27310037

6

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium; Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. Srour M, et al. Among authors: shalev s. Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17. Am J Hum Genet. 2015. PMID: 26477546 Free PMC article.

7

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.

Daniel-Spiegel E, Ghalamkarpour A, Spiegel R, Weiner E, Vikkula M, Shalev E, Shalev SA. Daniel-Spiegel E, et al. Prenat Diagn. 2005 Nov;25(11):1015-8. doi: 10.1002/pd.1237. Prenat Diagn. 2005. PMID: 16231305

8

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.

Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA. Shalev SA, et al. Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21. Pediatr Diabetes. 2014. PMID: 24138066 Free PMC article.

9

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T. Dvir L, et al. Am J Hum Genet. 2010 Aug 13;87(2):258-64. doi: 10.1016/j.ajhg.2010.06.016. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655036 Free PMC article.

10

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.

Spiegel R, Dobbie A, Hartman C, de Vries L, Ellard S, Shalev SA. Spiegel R, et al. Among authors: shalev sa. Am J Med Genet A. 2011 Nov;155A(11):2821-5. doi: 10.1002/ajmg.a.34251. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21965172

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