Publications by authors named "Daphna Marom"

20Publications

Genetics of tuberous sclerosis complex: an update.

Authors:
Daphna Marom

Childs Nerv Syst 2020 Oct 6;36(10):2489-2496. Epub 2020 Aug 6.

Human Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-020-04726-zDOI Listing
October 2020

[TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?]

Harefuah 2018 Jan;157(1):52-57

Pediatrics A, Schneider Children's Medical Center of Israel.

View Article

Download full-text PDF

Source
January 2018

[INFECTIONS AND THE IMMUNE SYSTEM - TOWARDS PERSONALIZED MEDICINE].

Harefuah 2016 Mar;155(3):167-9, 195

View Article

Download full-text PDF

Source
March 2016

Is one diagnosis the whole story? patients with double diagnoses.

Am J Med Genet A 2016 09 8;170(9):2338-48. Epub 2016 Jun 8.

The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37799DOI Listing
September 2016

Nonbullous Erythema Multiforme in Hospitalized Children: A 10-Year Survey.

Pediatr Dermatol 2015 Sep-Oct;32(5):701-3. Epub 2015 Jul 30.

Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach Tikva and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/pde.12659
Publisher Site
http://dx.doi.org/10.1111/pde.12659DOI Listing
June 2016

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.

View Article

Download full-text PDF

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

A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation.

J Child Neurol 2015 Mar 22;30(4):490-5. Epub 2014 Sep 22.

Neurogenetic Clinic, Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073814549241DOI Listing
March 2015

Infective endocarditis in previously healthy children with structurally normal hearts.

Pediatr Cardiol 2013 Aug 13;34(6):1415-21. Epub 2013 Mar 13.

Department of Pediatrics A, Schneider Children's Medical Center, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00246-013-0665-9DOI Listing
August 2013

[Trends in pediatric infective endocarditis in a tertiary pediatric center in Israel].

Harefuah 2012 Aug;151(8):464-8, 498, 497

Department of Pediatrics A, Schneider Children's Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

View Article

Download full-text PDF

Source
August 2012

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

Am J Med Genet A 2011 Aug 8;155A(8):1959-63. Epub 2011 Jul 8.

Pediatrics A, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34121DOI Listing
August 2011

Healthcare-associated versus community-associated infective endocarditis in children.

Pediatr Infect Dis J 2011 Jul;30(7):585-8

Department of Pediatrics A, Schneider Children's Medical Center, Petach Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/INF.0b013e31820f66c7DOI Listing
July 2011

Acute infantile liver failure due to mutations in the TRMU gene.

Am J Hum Genet 2009 Sep;85(3):401-7

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2009.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771591PMC
September 2009

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.

View Article

Download full-text PDF

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

Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.

Pediatrics 2006 Feb 3;117(2):e322-7. Epub 2006 Jan 3.

Institute for Endocrinology and Diabetes, Schneider Children's Medical Center of Israel, Petah Tiqwa 49202, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2005-1973DOI Listing
February 2006