Stavit A Shalev

Stavit A Shalev

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Stavit A Shalev

Publications by authors named "Stavit A Shalev"

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69Publications

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The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.

J Invest Dermatol 2019 Aug 26. Epub 2019 Aug 26.

Departments of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Robert H. Lurie Comprehensive Cancer Center, Northwestern University, Chicago, IL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.08.433DOI Listing
August 2019

KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.

Am J Med Genet A 2016 10 6;170(10):2632-7. Epub 2016 May 6.

Genetic Institute, Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37740DOI Listing
October 2016

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Eur J Paediatr Neurol 2016 Jan 22;20(1):69-79. Epub 2015 Oct 22.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798150017
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http://dx.doi.org/10.1016/j.ejpn.2015.10.003DOI Listing
January 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

Marriage patterns and reproductive decision-making in the inhabitants of a single Muslim village during a 50-year period.

Hum Hered 2014 29;77(1-4):10-5. Epub 2014 Jul 29.

Department of Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.

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https://www.karger.com/Article/FullText/357945
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http://dx.doi.org/10.1159/000357945DOI Listing
March 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.

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

A long-term follow up of premarital counseling in the Israeli Arab population.

J Community Genet 2014 Oct 29;5(4):377-81. Epub 2014 Jun 29.

Department of Genetic Community, Public Health Services Ministry of Health, Jerusalem, Israel,

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http://dx.doi.org/10.1007/s12687-014-0192-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4159478PMC
October 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

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

Eur J Med Genet 2013 Jan 7;56(1):39-42. Epub 2012 Nov 7.

Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1016/j.ejmg.2012.10.004DOI Listing
January 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

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Am J Hum Genet 2013 Jan 27;92(1):144-9. Epub 2012 Dec 27.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542463PMC
January 2013

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Am J Med Genet A 2012 Aug 18;158A(8):1865-76. Epub 2012 Jun 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402612PMC
August 2012

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Mol Vis 2011 30;17:3548-55. Epub 2011 Dec 30.

The Rappaport Family Institute for Research in the Medical Sciences, Haifa, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250379PMC
April 2012

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

Alcohol consumption during pregnancy among women in Israel.

J Popul Ther Clin Pharmacol 2011 10;18(2):e261-72. Epub 2011 May 10.

Child Development and Rehabilitation Institute, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

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September 2011

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations.

Am J Med Genet A 2010 Aug;152A(8):2023-8

Department of Community Genetic, Public Health Services, and Hebrew University, Jerusalem, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.33537
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http://dx.doi.org/10.1002/ajmg.a.33537DOI Listing
August 2010

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

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

Am J Hum Genet 2010 May 15;86(5):783-8. Epub 2010 Apr 15.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2010.03.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869006PMC
May 2010

Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):176-82

Howard Hughes Medical Institute and the National Institutes of Health, USA.

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http://dx.doi.org/10.1002/ajmg.c.30234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2814953PMC
February 2010

[60 years of medical genetics in Israel].

Harefuah 2010 Feb;149(2):91-4, 124

The Genetics Institute, HaEmek Medical Center, Afula, Technion-Rapport Faculty of Medicine, Haifa, Israel.

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February 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

A targeted population carrier screening program for severe and frequent genetic diseases in Israel.

Eur J Hum Genet 2009 May 24;17(5):591-7. Epub 2008 Dec 24.

Department of Community Genetics, Public Health Services, Ministry of Health and the Hebrew University Jerusalem, Tel Hashomer, Ramat Gan, Israel.

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http://dx.doi.org/10.1038/ejhg.2008.241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986253PMC
May 2009

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

Am J Hum Genet 2008 Aug;83(2):193-9

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben Gurion University, Beer-Sheva 84105, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2495061PMC
August 2008

Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?

Eur J Paediatr Neurol 2008 Mar 30;12(2):97-101. Epub 2007 Jul 30.

Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.ejpn.2007.06.005DOI Listing
March 2008

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

An association of Hutchinson-Gilford progeria and malignancy.

Am J Med Genet A 2007 Aug;143A(16):1821-6

The Genetics Institute, Ha'Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.31803DOI Listing
August 2007

A syndrome characterized by intra-uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features.

Authors:
Stavit A Shalev

Am J Med Genet A 2007 Feb;143(4):395-8

Ha'emek Medical Center, Institute of Genetics, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.31580DOI Listing
February 2007

Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred.

Pediatr Neurol 2006 Dec;35(6):425-9

Neuropediatric Clinic, Ha-Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.06.017DOI Listing
December 2006

Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community.

Am J Med Genet A 2006 Aug;140(15):1644-6

Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.31342DOI Listing
August 2006

High incidence of deafness from three frequent connexin 26 mutations in an isolated community.

Genet Test 2006 ;10(1):40-3

Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1089/gte.2006.10.40DOI Listing
June 2006

Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.

Am J Med Genet A 2006 Jan;140(2):162-5

The Genetics Institute, Ha'Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.31033DOI Listing
January 2006

Origin and expansion of four different beta globin mutations in a single Arab village.

Am J Hum Biol 2005 Sep-Oct;17(5):659-61

Department of Community Genetics, Public Health Services, Health Ministry and Hebrew University, Jerusalem, Israel.

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http://doi.wiley.com/10.1002/ajhb.20429
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http://dx.doi.org/10.1002/ajhb.20429DOI 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
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http://dx.doi.org/10.1002/ajmg.a.30932DOI Listing
October 2005

Behavioral pattern profile: a tool for the description of behavior to be used in the genetics clinic.

Am J Med Genet A 2004 Aug;128A(4):389-95

Genetics Institute, Ha'emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.30192DOI Listing
August 2004

Thrombophilia and stillbirth: possible connection by intrauterine growth restriction.

BJOG 2004 Aug;111(8):780-3

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

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http://dx.doi.org/10.1111/j.1471-0528.2004.00182.xDOI Listing
August 2004

Long-term follow-up of three individuals with Kabuki syndrome.

Am J Med Genet A 2004 Mar;125A(2):191-200

Institute of Genetics, Ha'emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20375DOI Listing
March 2004

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Eur J Hum Genet 2004 Jan;12(1):38-43

Laboratory of Human Molecular Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

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http://www.nature.com/articles/5201087
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http://dx.doi.org/10.1038/sj.ejhg.5201087DOI Listing
January 2004

[A comprehensive program for prevention of genetic diseases among Arabs in Israel].

Harefuah 2003 Nov;142(11):792-4, 804

Genetic Institute, Ha'Emek Medical Center, Afula.

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November 2003

Another adult with Meier-Gorlin syndrome--insights into the natural history.

Clin Dysmorphol 2003 Jul;12(3):167-9

Department of Medical Genetics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1097/01.mcd.0000065052.36236.32DOI Listing
July 2003

Poland anomaly--report of an unusual family.

Am J Med Genet A 2003 Apr;118A(2):180-3

Department of Medical Genetics and Pediatrics, British Columbia Childrens' Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.10145DOI Listing
April 2003