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Ronen Spiegel

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Stavit A Shalev; Ronen Spiegel; Zvi U Borochowitz
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
Ronen Spiegel; Asaf Ta-Shma; Shamir Zenvirt; Efrat Burak; Shimon Edvardson; Lars Feuk; Jonatan Halvardson; Muhammad Mahajna; Ophry Pines; Ann Saada (Reisch); Avraham Shaag; Stavit Shalev; Orly Elpeleg
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
Ronen Spiegel; Liat de Vries; Angus Dobbie; Sian Ellard; Corina Hartman; Stavit A Shalev
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.

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All Publications

2012: Stavit A Shalev; Ronen Spiegel; Zvi U Borochowitz
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
European journal of medical genetics 2012;55(4):256-64.
2012: Ronen Spiegel; Asaf Ta-Shma; Shamir Zenvirt; Efrat Burak; Shimon Edvardson; Lars Feuk; Jonatan Halvardson; Muhammad Mahajna; Ophry Pines; Ann Saada (Reisch); Avraham Shaag; Stavit Shalev; Orly Elpeleg
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
American journal of human genetics 2012;90(3):518-23.
2011: Ronen Spiegel; Liat de Vries; Angus Dobbie; Sian Ellard; Corina Hartman; Stavit A Shalev
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.
American journal of medical genetics. Part A 2011;155A(11):2821-5.
2011: Ronen Spiegel; Morad Khayat; Stavit A Shalev; Yoseph Horovitz; Hanna Mandel; Eli Hershkovitz; Flora Barghuti; Avraham Shaag; Ann Saada (Reisch); Stanley H Korman; Orly Elpeleg; Ido Yatsiv
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
Journal of medical genetics 2011;48(3):177-82.
2010: Ronen Spiegel; Simon T Cliffe; Michael F Buckley; Yanick J Crow; Jill Urquhart; Yoseph Horovitz; Yardena Tenenbaum-Rakover; William G Newman; Dian Donnai; Stavit A Shalev
Expanding the clinical spectrum of SLC29A3 gene defects.
European journal of medical genetics 2010;53(5):309-13.
2010: Ronen Spiegel; Stavit A Shalev; Amin Adawi; Eli Sprecher; Yardena Tenenbaum-Rakover
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
European journal of endocrinology / European Federation of Endocrine Societies 2010;162(6):1021-5.
2010: Ronen Spiegel; Dan Miron; Dmitry Lumelsky; Yoseph Horovitz
Severe meningoencephalitis due to late reactivation of Varicella-Zoster virus in an immunocompetent child.
Journal of child neurology 2010;25(1):87-90.
2009: Ronen Spiegel; Yoseph Horovitz; Hartmut Peters; Fikret Erdogan; Ilana Chervinsky; Stavit A Shalev
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.
American journal of medical genetics. Part A 2009;149A(12):2655-60.
2009: Ronen Spiegel; Avraham Shaag; Hanna Mandel; Dan Reich; Marina Penyakov; Yasir Hujeirat; Ann Saada (Reisch); Orly Elpeleg; Stavit A Shalev
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
European journal of human genetics : EJHG 2009;17(9):1200-3.
2009: Ronen Spiegel; Estela Area Gomez; Hasan O Akman; Sindu Krishna; Yoseph Horovitz; Salvatore DiMauro
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.
Neuromuscular disorders : NMD 2009;19(3):207-11.
2008: Ronen Spiegel; Dan Miron; Helena Yodko; Dmitry Lumelsky; Adib Habib; Yoseph Horovitz
Late relapse of herpes simplex virus encephalitis in a child due to reactivation of latent virus: clinicopathological report and review.
Journal of child neurology 2008;23(3):344-8.
2007: Ronen Spiegel; J Mahamid; M Orho-Melander; D Miron; Yoseph Horovitz
The variable clinical phenotype of liver glycogen synthase deficiency.
Journal of pediatric endocrinology & metabolism : JPEM 2007;20(12):1339-42.
2007: Dan Miron; Yoram Keness; Noam Bor; Ronen Spiegel; Yoseph Horowitz
Pseudomonas stutzeri knee arthritis in a child: case report and review.
Journal of pediatric orthopedics. Part B 2007;16(6):419-21.
2005: Dan Miron; Bassem Kawar; Dimitry Lumelsky; Ronen Spiegel; Yoseph Horovitz
Encysted peritoneal hydatidosis in a child -- the effectiveness of pre-operative therapy with a combination of praziquantel and albendazole.
Annals of tropical medicine and parasitology 2005;99(6):577-82.
2005: Ronen Spiegel; Yardena Rakover-Tenenbaum; Hanna Mandel; Dmitry Lumelski; Osnat Admoni; Yoseph Horovitz
Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.
Journal of pediatric endocrinology & metabolism : JPEM 2005;18(6):617-9.
2005: Ronen Spiegel; Gideon Bach; Vivi Sury; Getu Mengistu; Bela Meidan; Stavit A Shalev; Yona Shneor; Hanna Mandel; Marsha Zeigler
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.
Molecular genetics and metabolism 2005;84(2):160-6.
2005: Ronen Spiegel; Stavit A Shalev; Angela Huebner; Yoseph Horovitz
Association of chronic symptomatic neutropenia with the triple A syndrome.
Journal of pediatric hematology/oncology 2005;27(1):53-5.
2004: Ronen Spiegel; Dan Miron; D Fink; Herzel Gavriel; Yoseph Horovitz
Eosinophilic pericarditis: a rare complication of idiopathic hypereosinophilic syndrome in a child.
Pediatric cardiology 2004;25(6):690-2.
2004: Ronen Spiegel; Dan Miron; Waheeb Sakran; Yoseph Horovitz
Acute neonatal suppurative parotitis: case reports and review.
The Pediatric infectious disease journal 2004;23(1):76-8.
2003: Ronen Spiegel; Lucia Zalman; Herzel Gavriel; Yoseph Horovitz
Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis.
Journal of pediatric hematology/oncology 2003;25(9):747-9.
2003: Sergey Bykov; Izak Garty; Ronen Spiegel; Dimitry Lumelsky; Yoseph Horovitz
"Bearded infant" appearance on bone and Ga-67 scintigraphy in a child with localized mandibular Caffey's disease.
Clinical nuclear medicine 2003;28(5):426-8.
2003: Jacob Genizi; Dan Miron; Ronen Spiegel; Daniel Fink; Yoseph Horowitz
Kawasaki disease in very young infants: high prevalence of atypical presentation and coronary arteritis.
Clinical pediatrics 2003;42(3):263-7.
2002: Ronen Spiegel; Dan Miron; Herzel Gavriel; Yoseph Horovitz
West Nile virus meningoencephalitis complicated by motor aphasia in Hodgkin's lymphoma.
Archives of disease in childhood 2002;86(6):441-2.
2002: Ronen Spiegel; Shlomi Constantini; Herzel Gavriel; Vitaly Siomin; Yoseph Horovitz
Association of prolonged fever and hypernatremia: rare presentation of hypothalamic/third ventricle tumor in a toddler.
Journal of pediatric hematology/oncology 2002;24(3):227-8.
1999: Ronen Spiegel; Dan Miron; Yoseph Horovitz
[Occult bacteremia in children--an old syndrome, new approaches].
Harefuah 1999;136(3):234-6.
1997: Ronen Spiegel; Dan Miron; Yoseph Horovitz
[Pyogenic liver abscess in children].
Harefuah 1997;133(12):613-5, 663.