Publications by authors named "Stavit Allon-Shalev"

16Publications

SAM syndrome is characterized by extensive phenotypic heterogeneity.

Exp Dermatol 2018 07;27(7):787-790

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/exd.13551DOI Listing
July 2018

Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.

Am J Med Genet A 2015 Mar;167A(3):607-11

Genetics Institute, Ha'Emek Medical center, Afula, Israel; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.36906DOI Listing
March 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

Factors affecting the utilization of genetic counseling services among Israeli Arab women.

Prenat Diagn 2015 Apr 12;35(4):370-5. Epub 2015 Feb 12.

The Triangle Regional Research and Development Center, Kfar Qari, Israel; Arab Academic Institute of Education, Beit Berl Academic College, Beit Berl, Israel.

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http://doi.wiley.com/10.1002/pd.4550
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http://dx.doi.org/10.1002/pd.4550DOI Listing
April 2015

Compliance for genetic screening in the Arab population in Israel.

Isr Med Assoc J 2012 Sep;14(9):538-42

Genetics Institute, Emek Medical Center, Afula, Israel.

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September 2012

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

Genet Test 2008 Jun;12(2):289-94

Department of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://www.liebertpub.com/doi/10.1089/gte.2007.0107
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http://dx.doi.org/10.1089/gte.2007.0107DOI Listing
June 2008

Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.

J Clin Endocrinol Metab 2007 Nov 4;92(11):4387-93. Epub 2007 Sep 4.

Faculty of Sciences, Bar Ilan University, Ramat Gan 52900, Israel.

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http://dx.doi.org/10.1210/jc.2007-0684DOI Listing
November 2007

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

Mol Genet Metab 2007 Apr 1;90(4):453-7. Epub 2007 Feb 1.

Department of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920600392
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http://dx.doi.org/10.1016/j.ymgme.2006.12.010DOI Listing
April 2007