Publications by authors named "Stavit A Shalev"

71Publications

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

J Invest Dermatol 2020 03 26;140(3):556-567.e9. 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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March 2020

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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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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July 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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March 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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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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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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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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July 2014

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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January 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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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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January 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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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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August 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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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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August 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

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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May 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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June 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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February 2010

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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September 2009

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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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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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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August 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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October 2007

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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March 2008

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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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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February 2007

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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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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June 2006

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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October 2005

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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November 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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August 2004

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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July 2003

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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January 2004

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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April 2003