Khayat M - Search Results

1

Severe infantile male encephalopathy is a result of early post-zygotic WDR45 somatic mutation.

Spiegel R, Shalev S, Bercovich D, Rabinovich D, Khayat M, Shaag A, Elpeleg O. Spiegel R, et al. Among authors: khayat m. Clin Genet. 2016 Dec;90(6):560-562. doi: 10.1111/cge.12849. Epub 2016 Sep 29. Clin Genet. 2016. PMID: 27681470 No abstract available.

2

High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel.

Khayat M, Hardouf H, Zlotogora J, Shalev SA. Khayat M, et al. Am J Med Genet A. 2010 Dec;152A(12):3091-4. doi: 10.1002/ajmg.a.33746. Am J Med Genet A. 2010. PMID: 21108394

3

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I. Spiegel R, et al. Among authors: khayat m. J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8. J Med Genet. 2011. PMID: 21147908

4

Ghrelin and growth hormone secretagogue receptor (GHSR) genes are not commonly involved in growth or weight abnormalities in an Israeli pediatric population.

Hess O, Admoni O, Khayat M, Elias G, Almagor T, Shalev SA, Tenenbaum-Rakover Y. Hess O, et al. Among authors: khayat m. J Pediatr Endocrinol Metab. 2012;25(5-6):537-40. doi: 10.1515/jpem-2012-0044. J Pediatr Endocrinol Metab. 2012. PMID: 22876551

5

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.

Atay Z, Bereket A, Turan S, Haliloglu B, Memisoglu A, Khayat M, Shalev SA, Spiegel R. Atay Z, et al. Among authors: khayat m. Gene. 2013 Feb 15;515(1):197-9. doi: 10.1016/j.gene.2012.11.044. Epub 2012 Dec 9. Gene. 2013. PMID: 23235116

6

Small-platelet thrombocytopenia in a family with autosomal recessive inheritance pattern.

Levin C, Zalman L, Tamary H, Krasnov T, Khayat M, Shalev S, Salama I, Koren A. Levin C, et al. Among authors: khayat m. Pediatr Blood Cancer. 2013 Oct;60(10):E128-30. doi: 10.1002/pbc.24581. Epub 2013 May 6. Pediatr Blood Cancer. 2013. PMID: 23650215 Clinical Trial.

7

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O. Spiegel R, et al. Among authors: khayat m. Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281368 Free PMC article. Clinical Trial.

8

Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?

Blumen SC, Kesler A, Dabby R, Shalev S, Khayat M, Almog Y, Zoldan J, Benninger F, Drory VE, Gurevich M, Sadeh M, Brais B, Braverman I. Blumen SC, et al. Among authors: khayat m. Isr Med Assoc J. 2013 Dec;15(12):748-52. Isr Med Assoc J. 2013. PMID: 24449978 Free article.

9

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: khayat m. 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

10

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.

Mandel H, Cohen Katsanelson K, Khayat M, Chervinsky I, Vladovski E, Iancu TC, Indelman M, Horovitz Y, Sprecher E, Shalev SA, Spiegel R. Mandel H, et al. Among authors: khayat m. Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12. doi: 10.1016/j.ejmg.2014.09.004. Epub 2014 Sep 28. Eur J Med Genet. 2014. PMID: 25270050

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