Spiegel R - Search Results

1

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

Mahamid J, Lorber A, Horovitz Y, Shalev SA, Collin GB, Naggert JK, Marshall JD, Spiegel R. Mahamid J, et al. Among authors: spiegel r. Pediatr Cardiol. 2013 Feb;34(2):455-8. doi: 10.1007/s00246-012-0296-6. Epub 2012 Mar 24. Pediatr Cardiol. 2013. PMID: 22447358 Free PMC article.

2

Eosinophilic pericarditis: a rare complication of idiopathic hypereosinophilic syndrome in a child.

Spiegel R, Miron D, Fink D, Gavriel H, Horovitz Y. Spiegel R, et al. Pediatr Cardiol. 2004 Nov-Dec;25(6):690-2. doi: 10.1007/s00246-003-0664-3. Pediatr Cardiol. 2004. PMID: 14743307

3

Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis.

Spiegel R, Zalman L, Gavriel H, Horovitz Y. Spiegel R, et al. J Pediatr Hematol Oncol. 2003 Sep;25(9):747-9. doi: 10.1097/00043426-200309000-00015. J Pediatr Hematol Oncol. 2003. PMID: 12972814 Review.

4

Association of chronic symptomatic neutropenia with the triple A syndrome.

Spiegel R, Shalev S, Huebner A, Horovitz Y. Spiegel R, et al. J Pediatr Hematol Oncol. 2005 Jan;27(1):53-5. doi: 10.1097/01.mph.0000151802.34101.ad. J Pediatr Hematol Oncol. 2005. PMID: 15654281

5

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. 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

6

The variable clinical phenotype of liver glycogen synthase deficiency.

Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y. Spiegel R, et al. J Pediatr Endocrinol Metab. 2007 Dec;20(12):1339-42. doi: 10.1515/jpem.2007.20.12.1339. J Pediatr Endocrinol Metab. 2007. PMID: 18341095

7

Acute neonatal suppurative parotitis: case reports and review.

Spiegel R, Miron D, Sakran W, Horovitz Y. Spiegel R, et al. Pediatr Infect Dis J. 2004 Jan;23(1):76-8. doi: 10.1097/01.inf.0000105181.74169.16. Pediatr Infect Dis J. 2004. PMID: 14743054 Review.

8

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.

Spiegel R, Shalev SA, Adawi A, Sprecher E, Tenenbaum-Rakover Y. Spiegel R, et al. Eur J Endocrinol. 2010 Jun;162(6):1021-5. doi: 10.1530/EJE-10-0077. Epub 2010 Mar 15. Eur J Endocrinol. 2010. PMID: 20231366

9

Expanding the clinical spectrum of SLC29A3 gene defects.

Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y, Tenenbaum-Rakover Y, Newman WG, Donnai D, Shalev SA. Spiegel R, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):309-13. doi: 10.1016/j.ejmg.2010.06.012. Epub 2010 Jul 7. Eur J Med Genet. 2010. PMID: 20619369

10

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. 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

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