Spiegel R - Search Results

1

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P. Spiegel R, et al. J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11. J Med Genet. 2016. PMID: 26561570 Free PMC article.

2

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

3

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.

Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M. Spiegel R, et al. Mol Genet Metab. 2005 Feb;84(2):160-6. doi: 10.1016/j.ymgme.2004.10.004. Mol Genet Metab. 2005. PMID: 15773042

4

A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family.

Shalev SA, Spiegel R, Hall JG. Shalev SA, et al. Among authors: spiegel r. Am J Med Genet A. 2005 Oct 15;138A(3):236-40. doi: 10.1002/ajmg.a.30932. Am J Med Genet A. 2005. PMID: 16158430

5

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. Among authors: spiegel r. Prenat Diagn. 2005 Nov;25(11):1015-8. doi: 10.1002/pd.1237. Prenat Diagn. 2005. PMID: 16231305

6

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. J Inherit Metab Dis. 2007 Apr;30(2):266. doi: 10.1007/s10545-007-0536-8. Epub 2007 Feb 15. J Inherit Metab Dis. 2007. PMID: 17372854

7

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, Adir N, Lipkin E, Bercovici S, Geiger D, van Steensel MA, Steijlen PM, Bergman R, Bindereif A, Choder M, Shalev S, Sprecher E. Nousbeck J, et al. Among authors: spiegel r. Am J Hum Genet. 2008 May;82(5):1114-21. doi: 10.1016/j.ajhg.2008.03.014. Epub 2008 Apr 24. Am J Hum Genet. 2008. PMID: 18439547 Free PMC article.

8

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

Benayoun L, Spiegel R, Auslender N, Abbasi AH, Rizel L, Hujeirat Y, Salama I, Garzozi HJ, Allon-Shalev S, Ben-Yosef T. Benayoun L, et al. Among authors: spiegel r. Am J Med Genet A. 2009 Feb 15;149A(4):650-6. doi: 10.1002/ajmg.a.32634. Am J Med Genet A. 2009. PMID: 19140180

9

The clinical spectrum of fetal Niemann-Pick type C.

Spiegel R, Raas-Rothschild A, Reish O, Regev M, Meiner V, Bargal R, Sury V, Meir K, Nadjari M, Hermann G, Iancu TC, Shalev SA, Zeigler M. Spiegel R, et al. Am J Med Genet A. 2009 Mar;149A(3):446-50. doi: 10.1002/ajmg.a.32642. Am J Med Genet A. 2009. PMID: 19206179

10

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, Saada A, Elpeleg O, Shalev SA. Spiegel R, et al. Eur J Hum Genet. 2009 Sep;17(9):1200-3. doi: 10.1038/ejhg.2009.24. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259137 Free PMC article.

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