Ronen Spiegel

Summary

Country: Israel

Publications

  1. doi request reprint TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
    Ronen Spiegel
    Paediatric Department A and Genetic Institute Ha Emek Medical Center, Afula, Israel
    J Med Genet 48:177-82. 2011
  2. ncbi request reprint Establishment of fetal biometric charts using quantile regression analysis
    Etty Daniel-Spiegel
    Department of Obstetrics and Gynecology, Haemek Medical Center, 18101 Afula, Israel
    J Ultrasound Med 32:23-33. 2013
  3. pmc Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
    Orphanet J Rare Dis 7:4. 2012
  4. ncbi request reprint The variable clinical phenotype of liver glycogen synthase deficiency
    R Spiegel
    Pediatric Department A, Haemek Medical Center, Afula
    J Pediatr Endocrinol Metab 20:1339-42. 2007
  5. doi request reprint A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities
    Ronen Spiegel
    Department of Pediatrics A, Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 149:2655-60. 2009
  6. doi request reprint ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency
    Ronen Spiegel
    Pediatric Department A, Ha Emek Medical Center, Afula, Israel
    Eur J Endocrinol 162:1021-5. 2010
  7. doi request reprint Expanding the clinical spectrum of SLC29A3 gene defects
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Eur J Med Genet 53:309-13. 2010
  8. ncbi request reprint Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation
    R Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel
    J Inherit Metab Dis 30:266. 2007
  9. ncbi request reprint Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula 18101, Israel
    J Hum Genet 51:846-50. 2006
  10. doi request reprint Severe meningoencephalitis due to late reactivation of Varicella-Zoster virus in an immunocompetent child
    Ronen Spiegel
    Pediatric Department A, Haemek Medical Center, Afula, Israel
    J Child Neurol 25:87-90. 2010

Collaborators

Detail Information

Publications35

  1. doi request reprint TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
    Ronen Spiegel
    Paediatric Department A and Genetic Institute Ha Emek Medical Center, Afula, Israel
    J Med Genet 48:177-82. 2011
    ..Almost all share a common Roma descent and are homozygous for a single founder splice site mutation...
  2. ncbi request reprint Establishment of fetal biometric charts using quantile regression analysis
    Etty Daniel-Spiegel
    Department of Obstetrics and Gynecology, Haemek Medical Center, 18101 Afula, Israel
    J Ultrasound Med 32:23-33. 2013
    ..The purpose of this study was to improve fetal biometric charts based on a much larger number of observations with an alternative statistical method: quantile regression analysis. A comparison between the charts is presented...
  3. pmc Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Switzerland
    Orphanet J Rare Dis 7:4. 2012
    ....
  4. ncbi request reprint The variable clinical phenotype of liver glycogen synthase deficiency
    R Spiegel
    Pediatric Department A, Haemek Medical Center, Afula
    J Pediatr Endocrinol Metab 20:1339-42. 2007
    ..Genetic analysis of the GYS2 gene confirmed the diagnosis. GSD0 is more common than previously assumed. Recognition of the variable phenotype spectrum of GSD0 and routine analysis of GYS2 are essential for the correct diagnosis...
  5. doi request reprint A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities
    Ronen Spiegel
    Department of Pediatrics A, Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 149:2655-60. 2009
    ..This phenotype does not fully meet typical diagnostic features of any known condition...
  6. doi request reprint ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency
    Ronen Spiegel
    Pediatric Department A, Ha Emek Medical Center, Afula, Israel
    Eur J Endocrinol 162:1021-5. 2010
    ..The aim of the present study was to characterize the endocrine phenotype of ANE syndrome and to delineate its pathogenesis...
  7. doi request reprint Expanding the clinical spectrum of SLC29A3 gene defects
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Eur J Med Genet 53:309-13. 2010
    ..This report emphasizes the complex genotype phenotype correlation in SLC29A3 disorders and suggests that other factors are relevant to disease manifestations and severity...
  8. ncbi request reprint Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation
    R Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel
    J Inherit Metab Dis 30:266. 2007
    ..Our findings indicate that the mutation R503C should be added to the handful of mutations associated with the severe phenotype when present in the homozygous state or combined with another severe mutation...
  9. ncbi request reprint Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula 18101, Israel
    J Hum Genet 51:846-50. 2006
    ..This report broadens the known "classic" phenotype of HL-I...
  10. doi request reprint Severe meningoencephalitis due to late reactivation of Varicella-Zoster virus in an immunocompetent child
    Ronen Spiegel
    Pediatric Department A, Haemek Medical Center, Afula, Israel
    J Child Neurol 25:87-90. 2010
    ..Characteristic lesions on MRI and the presence of Varicella-Zoster virus DNA in cerebrospinal fluid are key findings for the correct diagnosis...
  11. ncbi request reprint Secondary diabetes mellitus: late complication of glycogen storage disease type 1b
    Ronen Spiegel
    Department of Pediatrics A, Haemek Medical Center, Afula 18101, Israel
    J Pediatr Endocrinol Metab 18:617-9. 2005
    ..Diabetes mellitus should be considered among the late complications of GSD-1. The pathogenesis of the conversion, from a disease characterized by hypoglycemia to a disease dominated by hyperglycemia, is discussed...
  12. doi request reprint Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
    Ronen Spiegel
    The Genetic Institute, Ha Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Am J Med Genet A 155:2821-5. 2011
    ..Our results suggest that despite the early postnatal fulminant course, patients who survive may expect a relatively favorable prognosis...
  13. ncbi request reprint Association of chronic symptomatic neutropenia with the triple A syndrome
    Ronen Spiegel
    Pediatric Department A, Ha Emek Medical Center, Afula, Israel
    J Pediatr Hematol Oncol 27:53-5. 2005
    ..Chronic neutropenia should therefore be considered among the clinical manifestations of triple A syndrome...
  14. ncbi request reprint Eosinophilic pericarditis: a rare complication of idiopathic hypereosinophilic syndrome in a child
    R Spiegel
    Pediatric Department A, Haemek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel
    Pediatr Cardiol 25:690-2. 2004
    ..The child recovered after pericardial drainage and prolonged systemic steroid therapy. Eosinophilic pericarditis is a rare but potentially dangerous complication of IHES...
  15. ncbi request reprint Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis
    Ronen Spiegel
    Pediatric Department, Haemek Medical Center, Afula, Israel
    J Pediatr Hematol Oncol 25:747-9. 2003
    ..Eosinophilic pharyngitis may be a target organ in IHES. The benign clinical course and the laboratory characteristics are described...
  16. pmc Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel
    Eur J Hum Genet 17:1200-3. 2009
    ..Our study further emphasizes that NDUFS6 sequence should be analyzed in patients presenting with lethal neonatal lactic acidemia due to isolated complex I deficiency...
  17. doi request reprint Late relapse of herpes simplex virus encephalitis in a child due to reactivation of latent virus: clinicopathological report and review
    Ronen Spiegel
    Pediatric Department A, Ha Emek Medical Center, Afula Israel
    J Child Neurol 23:344-8. 2008
    ..All cases of late relapse of herpes simplex virus encephalitis in the last 15 years are reviewed, with emphasis on clinical characteristics and possible mechanisms...
  18. doi request reprint Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping
    Liat Benayoun
    Faculty of Medicine, Technion, Haifa, Israel
    Am J Med Genet A 149:650-6. 2009
    ..These observations should be taken into account, especially when studying common and heterogeneous recessive genetic conditions...
  19. ncbi request reprint Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema
    Etty Daniel-Spiegel
    Department of Obstetrics and Gynecology, Ha Emek Medical Center, Afula, Israel
    Prenat Diagn 25:1015-8. 2005
    ..To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis...
  20. pmc Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2
    Ronen Spiegel
    Department of Pediatrics A, Ha Emek Medical Center, Afula, Israel
    Am J Hum Genet 90:518-23. 2012
    ..In the absence of noninvasive biomarkers, determination of the ACO2 sequence or of aconitase activity in lymphoblasts are warranted in similarly affected individuals, based on clinical and neuroradiologic grounds...
  21. pmc Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
    Ronen Spiegel
    1 Department of Pediatric A, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel 2 Genetic Institute, Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel
    Eur J Hum Genet 22:902-6. 2014
    ..We suggest adding genetic analysis of FDX1L in cases of mitochondrial myopathy especially when associated with reduced activity of the respiratory chain complexes I, II and III. ..
  22. doi request reprint A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families
    Stavit A Shalev
    Genetic Institute, Emek Medical Center, Afula, Israel
    Eur J Med Genet 55:256-64. 2012
    ....
  23. ncbi request reprint A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family
    Stavit A Shalev
    Genetics Institute, Ha Emek Medical Center Afula, Rappaport Faculty of Medicine of Technion Haifa, Afula, Israel
    Am J Med Genet A 138:236-40. 2005
    ..The phenotype seems to be distinct from other multiple pterygium syndromes because the lower limbs are spared, and the umbilical hernia with hypoplastic skin has not been described previously...
  24. ncbi request reprint Pseudomonas stutzeri knee arthritis in a child: case report and review
    Dan Miron
    Pediatric Department A, Haemek Medical Center, Rappaport School of Medicine, Haifa, Israel
    J Pediatr Orthop B 16:419-21. 2007
    ..In both cases, the suggested mechanism of the infection was local rather than bacterium invasion...
  25. ncbi request reprint The clinical spectrum of fetal Niemann-Pick type C
    Ronen Spiegel
    Genetic Institute, Haemek Medical Center, Afula, Israel
    Am J Med Genet A 149:446-50. 2009
    ..We suggest that once identified these findings, should raise the suspicion of fetal NPC. Our study further expands the antenatal clinical spectrum of NPC and provides clues to its prenatal diagnosis...
  26. ncbi request reprint Acute neonatal suppurative parotitis: case reports and review
    Ronen Spiegel
    Pediatric Departments A Ha Emek medical Center, Afula, Israel
    Pediatr Infect Dis J 23:76-8. 2004
    ..Thirty-eight percent were premature babies, only 41% were febrile and the causative agent in most cases was S. aureus. Recovery was achieved in 78% of the patients with antibiotic therapy without drainage...
  27. ncbi request reprint "Bearded infant" appearance on bone and Ga-67 scintigraphy in a child with localized mandibular Caffey's disease
    Sergey Bykov
    Department of Nuclear Medicine, Haemek Medical Center, Afula, Israel
    Clin Nucl Med 28:426-8. 2003
  28. ncbi request reprint 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
    Ronen Spiegel
    Department of Pediatrics, Haemek Medical Center, Afula, Israel
    Mol Genet Metab 84:160-6. 2005
    ..This deletion in saposin A is proposed as the cause for the abnormal galactosylceramide metabolism in this infant. This is the first report of a saposin A mutation in humans leading to pathological consequences...
  29. doi request reprint Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations
    Ronen Spiegel
    Department of Pediatrics, Haemek Medical Center, Rappaport School of Medicine, Afula, Israel
    Neuromuscul Disord 19:207-11. 2009
    ..This may lead to a failure in the closure of the N terminal and C terminal domains and loss of stability due to lack of inter-domain communication during the catalytic process...
  30. ncbi request reprint Association of prolonged fever and hypernatremia: rare presentation of hypothalamic/third ventricle tumor in a toddler
    Ronen Spiegel
    Department of Pediatrics HaEmek Medical Center, Afula, Israel
    J Pediatr Hematol Oncol 24:227-8. 2002
    ..After surgery, the child did generally well, but hypothalamic thermoregulatory and osmoregulatory functions were not restored. These presenting symptoms, their pathophysiology, and the implications for pediatric practice are discussed...
  31. doi request reprint A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia
    Gianluca Caridi
    Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genoa, Italy
    Eur J Clin Invest 43:72-8. 2013
    ..The trait is caused by a variety of mutations within the albumin gene...
  32. ncbi request reprint Kawasaki disease in very young infants: high prevalence of atypical presentation and coronary arteritis
    Jacob Genizi
    Pediatric Department A, Ha Emek Medical Center, Afula, Israel
    Clin Pediatr (Phila) 42:263-7. 2003
  33. ncbi request reprint Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation
    Cristina Gomez-Abad
    Neurology Service, Fundacion Jimenez Diaz, Madrid, Spain
    Epilepsia 48:1011-4. 2007
    ..We observed three apparently unrelated and geographically separate Arab families with Lafora disease in Israel and the Palestinian territories...
  34. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...
  35. pmc Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis
    Janna Nousbeck
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, 31096 Haifa, Israel
    Am J Hum Genet 82:1114-21. 2008
    ....