Ronen Spiegel

Ronen Spiegel

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Ronen Spiegel

Ronen Spiegel

Publications by authors named "Ronen Spiegel"

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The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.

Eur J Med Genet 2019 Oct 17;62(10):103728. Epub 2019 Jul 17.

Department of Pediatrics B, Emek Medical Center, Afula, Israel; Genetic Institute, Emek Medical Center, Afula, Israel; Rappaport School of Medicine, Technion, Haifa, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103728DOI Listing
October 2019

Gaucher disease type 3c: New patients with unique presentations and review of the literature.

Mol Genet Metab 2019 06 21;127(2):138-146. Epub 2019 May 21.

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192193026
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http://dx.doi.org/10.1016/j.ymgme.2019.05.011DOI Listing
June 2019

Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.

Isr Med Assoc J 2019 Mar;21(3):219-221

Department of Pediatrics B, Emek Medical Center, Afula, Israel.

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March 2019

Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism.

Isr Med Assoc J 2018 Apr;20(4):260-261

Pediatric Department B, Emek Medical Center, Afula, Israel.

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April 2018

Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis.

Int J Rheum Dis 2018 Mar 16;21(3):755-760. Epub 2016 Jun 16.

Rappaport School of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1111/1756-185X.12906DOI Listing
March 2018

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

Eur J Med Genet 2017 Jun 5;60(6):317-320. Epub 2017 Apr 5.

Pediatric Department B, Emek Medical Center, Afula, Israel; Rappaport School of Medicine, Technion, Haifa, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.001DOI Listing
June 2017

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

Neuromuscul Disord 2017 Feb 24;27(2):136-140. Epub 2016 Nov 24.

Institute of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.nmd.2016.11.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5280189PMC
February 2017

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

JIMD Rep 2017 19;33:55-60. Epub 2016 Aug 19.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/8904_2016_580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413448PMC
August 2016

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

Neurogenetics 2016 07 28;17(3):187-90. Epub 2016 Apr 28.

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10048-016-0483-3DOI Listing
July 2016

Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.

J Genet Couns 2016 Apr 14;25(2):314-24. Epub 2015 Sep 14.

Nursing Department, School of Health Professions, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1007/s10897-015-9873-1DOI Listing
April 2016

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

Eur J Med Genet 2014 Nov-Dec;57(11-12):607-12. Epub 2014 Sep 28.

Rappaport School of Medicine, Technion Haifa, Israel; Genetic Institute, Emek Medical Center, Afula, Israel; Pediatric Department A', Emek Medical Center, Afula, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.09.004DOI Listing
July 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Establishment of a Screening Test for Rapid and Early Diagnosis of Pompe Disease using Tandem Mass Spectrometry (Lc-Ms/Ms): Israel Experience.

J Neuromuscul Dis 2015;2(s1):S40

Metabolic Unit, Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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January 2015

Establishing hospital admission criteria of pediatric Henoch-Schonlein purpura.

Rheumatol Int 2014 Nov 23;34(11):1497-503. Epub 2014 Feb 23.

Department of Pediatrics A, Emek Medical Center, 18101, Afula, Israel.

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http://dx.doi.org/10.1007/s00296-014-2971-9DOI Listing
November 2014

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Mov Disord Clin Pract 2014 Sep 26;1(3):240-242. Epub 2014 Jun 26.

Department of Neurology College of Physicians and Surgeons Columbia University New York NY USA.

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http://dx.doi.org/10.1002/mdc3.12055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353531PMC
September 2014

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.

Eur J Hum Genet 2014 Aug 15;22(8):1019-25. Epub 2014 Jan 15.

Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350599PMC
August 2014

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

Eur J Hum Genet 2014 Jul 27;22(7):902-6. Epub 2013 Nov 27.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060119PMC
July 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

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

Gene 2013 Feb 9;515(1):197-9. Epub 2012 Dec 9.

Department of Pediatric Endocrinology, School of Medicine, Marmara University, İstanbul, Turkey.

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http://dx.doi.org/10.1016/j.gene.2012.11.044DOI Listing
February 2013

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.

Eur J Clin Invest 2013 Jan 26;43(1):72-8. Epub 2012 Nov 26.

Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genoa, Italy.

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http://dx.doi.org/10.1111/eci.12019DOI Listing
January 2013

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.

Am J Med Genet A 2011 Nov 30;155A(11):2821-5. Epub 2011 Sep 30.

The Genetic Institute, Ha'Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.34251DOI Listing
November 2011

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

Eur J Endocrinol 2010 Jun 15;162(6):1021-5. Epub 2010 Mar 15.

Pediatric Department A, Ha'Emek Medical Center, Afula, Israel.

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https://eje.bioscientifica.com/view/journals/eje/162/6/1021.
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http://dx.doi.org/10.1530/EJE-10-0077DOI Listing
June 2010

Severe meningoencephalitis due to late reactivation of Varicella-Zoster virus in an immunocompetent child.

J Child Neurol 2010 Jan 3;25(1):87-90. Epub 2009 Jun 3.

Pediatric Department A, HaEmek Medical Center, Afula, Israel.

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http://jcn.sagepub.com/content/25/1/87.full.pdf
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http://jcn.sagepub.com/cgi/doi/10.1177/0883073809336296
Publisher Site
http://dx.doi.org/10.1177/0883073809336296DOI Listing
January 2010

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

Eur J Hum Genet 2009 Sep 4;17(9):1200-3. Epub 2009 Mar 4.

Genetic Institute, Ha'Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1038/ejhg.2009.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986593PMC
September 2009

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.

Ann Neurol 2009 Sep;66(3):419-24

Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ana.21752DOI Listing
September 2009

Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.

Neuromuscul Disord 2009 Mar 20;19(3):207-11. Epub 2009 Jan 20.

Department of Pediatrics, HaEmek Medical Center, Rappaport School of Medicine, Afula, Israel.

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http://dx.doi.org/10.1016/j.nmd.2008.12.004DOI Listing
March 2009

Late relapse of herpes simplex virus encephalitis in a child due to reactivation of latent virus: clinicopathological report and review.

J Child Neurol 2008 Mar 29;23(3):344-8. Epub 2008 Jan 29.

Pediatric Department A, Ha Emek Medical Center, Afula. Israel.

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http://dx.doi.org/10.1177/0883073807309243DOI Listing
March 2008

Pseudomonas stutzeri knee arthritis in a child: case report and review.

J Pediatr Orthop B 2007 Nov;16(6):419-21

Pediatric Department A, HaEmek Medical Center, Rappaport School of Medicine, Haifa, Israel.

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http://dx.doi.org/10.1097/BPB.0b013e3282f058bbDOI Listing
November 2007

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.

Prenat Diagn 2005 Nov;25(11):1015-8

Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/pd.1237DOI Listing
November 2005

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

Am J Med Genet A 2005 Oct;138A(3):236-40

Genetics Institute, Ha'Emek Medical Center Afula, Rappaport Faculty of Medicine of Technion Haifa, Afula, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.30932
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30932DOI Listing
October 2005

Secondary diabetes mellitus: late complication of glycogen storage disease type 1b.

J Pediatr Endocrinol Metab 2005 Jun;18(6):617-9

Department of Pediatrics A, HaEmek Medical Center, Afula 18101, Israel.

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http://dx.doi.org/10.1515/jpem.2005.18.6.617DOI Listing
June 2005

Association of chronic symptomatic neutropenia with the triple A syndrome.

J Pediatr Hematol Oncol 2005 Jan;27(1):53-5

Pediatric Department A, Ha'Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1097/01.mph.0000151802.34101.adDOI Listing
January 2005

Acute neonatal suppurative parotitis: case reports and review.

Pediatr Infect Dis J 2004 Jan;23(1):76-8

Pediatric Departments A Ha'Emek medical Center, Afula, Israel.

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https://insights.ovid.com/crossref?an=00006454-200401000-000
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http://dx.doi.org/10.1097/01.inf.0000105181.74169.16DOI Listing
January 2004

Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis.

J Pediatr Hematol Oncol 2003 Sep;25(9):747-9

Pediatric Department, HaEmek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1097/00043426-200309000-00015DOI Listing
September 2003

"Bearded infant" appearance on bone and Ga-67 scintigraphy in a child with localized mandibular Caffey's disease.

Clin Nucl Med 2003 May;28(5):426-8

Department of Nuclear Medicine, Haemek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1097/01.RLU.0000063862.89622.BFDOI Listing
May 2003

Kawasaki disease in very young infants: high prevalence of atypical presentation and coronary arteritis.

Clin Pediatr (Phila) 2003 Apr;42(3):263-7

Pediatric Department "A", Ha'Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1177/000992280304200310DOI Listing
April 2003

Association of prolonged fever and hypernatremia: rare presentation of hypothalamic/third ventricle tumor in a toddler.

J Pediatr Hematol Oncol 2002 Mar-Apr;24(3):227-8

Department of Pediatrics HaEmek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1097/00043426-200203000-00014DOI Listing
May 2002