Israela Lerer

Israela Lerer

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Israela Lerer

Israela Lerer

Publications by authors named "Israela Lerer"

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42Publications

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is associated with recessive primary familial brain calcification.

Ann Clin Transl Neurol 2019 01 15;6(1):106-113. Epub 2018 Nov 15.

Department of Genetics and Metabolic Diseases Center for Clinical Genetics Hadassah Medical Center Jerusalem Israel.

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http://doi.wiley.com/10.1002/acn3.684
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http://dx.doi.org/10.1002/acn3.684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331209PMC
January 2019

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.

Invest Ophthalmol Vis Sci 2018 02;59(2):1095-1104

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1167/iovs.17-22817DOI Listing
February 2018

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.

Prenat Diagn 2018 01 19;38(2):135-139. Epub 2018 Jan 19.

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

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http://dx.doi.org/10.1002/pd.5201DOI Listing
January 2018

An Ashkenazi founder mutation in the PKHD1 gene.

Eur J Med Genet 2016 Feb 23;59(2):86-90. Epub 2015 Dec 23.

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

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http://dx.doi.org/10.1016/j.ejmg.2015.12.013DOI Listing
February 2016

Genetic screening in patients with Retinoblastoma in Israel.

Fam Cancer 2015 Sep;14(3):471-80

Department of Human Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Kiryat Hadassah, POB 12000, 91120, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10689-015-9794-zDOI Listing
September 2015

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

Neurology 2015 Feb 21;84(7):659-67. Epub 2015 Jan 21.

From the Department of Neurology and Agnes Ginges Center for Human Neurogenetics (A.L., P.P.), Department of Genetics and Metabolic Diseases (B.-E.Z., M.A., L.C., R.S., I.L., V.M.), Neuro-Ophthalmology Center, Department of Ophthalmology (S.D.), and Department of Radiology (J.M.G.), Hebrew University-Hadassah Medical Center, Jerusalem, Israel; Institut für Zytobiologie und Zytopathologie (C.S., R.L.), Philipps-Universität Marburg, Germany; Laboratoire de Neurogénétique (G.S., M.G.), Ecole Pratique des Hautes Etudes-heSam Universite, Institut du Cerveau et de la Moelle épinière, Paris; Inserm U1127 (G.S., M.G., E.M., A.B.), CNRS UMR7225, Sorbonne Universites, UPMC Univ Paris 06 UMR_1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris; APHP (G.S., A.B.), Fédération de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris; Institut du Cerveau et de la Moelle épinière (G.S., E.M., A.B.), Genotyping and Sequencing Facility, Paris, France; Department of Neurology (A.M.), Shaare Zedek Medical Center, Jerusalem, Israel; Max-Planck-Institut für terrestrische Mikrobiologie (R.L.), Marburg; and LOEWE Zentrum für Synthetische Mikrobiologie SynMikro (R.L.), Marburg, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001270DOI Listing
February 2015

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.

J Neurol 2014 Nov 23;261(11):2165-9. Epub 2014 Aug 23.

Department of Pediatric Neurology, Schneider Children's Medical Center of Israel, 14 Kaplan St., 49202, Petach Tikva, Israel,

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http://dx.doi.org/10.1007/s00415-014-7457-xDOI Listing
November 2014

Lynch Syndrome in high risk Ashkenazi Jews in Israel.

Fam Cancer 2014 Mar;13(1):65-73

Sharett Institute of Oncology, Hadassah-Hebrew University Medical Center, Kyriat Hadassah, POB 12000, 91120, Jerusalem, Israel,

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http://dx.doi.org/10.1007/s10689-013-9675-2DOI Listing
March 2014

Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations.

Breast Cancer Res Treat 2013 Jul 4;140(1):207-11. Epub 2013 Jul 4.

Sharett Institute of Oncology, Hadassah Medical Center, Hebrew University, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10549-013-2621-zDOI Listing
July 2013

Two BRCA1/2 founder mutations in Jews of Sephardic origin.

Fam Cancer 2011 Mar;10(1):59-63

Department of Human Genetics & Metabolic Diseases, Hadassah Hebrew University Medical Center, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1007/s10689-010-9395-9DOI Listing
March 2011

Familial hydrocephalus with normal cognition and distinctive radiological features.

Am J Med Genet A 2010 Nov;152A(11):2743-8

Schneider Children's Medical Center of Israel, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.

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http://dx.doi.org/10.1002/ajmg.a.33688DOI Listing
November 2010

An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.

Fam Cancer 2010 Jun;9(2):141-50

Sharret Institute of Oncology, Hadassah-Hebrew University Medical Center, Kyriat Hadassah, POB 12000, 91120, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s10689-009-9298-9DOI Listing
June 2010

Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.

Fam Cancer 2009 20;8(3):187-94. Epub 2008 Dec 20.

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

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http://dx.doi.org/10.1007/s10689-008-9227-3DOI Listing
January 2010

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Eur J Med Genet 2009 Mar-Jun;52(2-3):140-4. Epub 2009 Mar 26.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120900026
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http://dx.doi.org/10.1016/j.ejmg.2009.03.011DOI Listing
September 2009

The H syndrome is caused by mutations in the nucleoside transporter hENT3.

Am J Hum Genet 2008 Oct;83(4):529-34

Department of Dermatology, Hadassah, Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561939PMC
October 2008

Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia.

J Am Acad Dermatol 2007 Nov 20;57(5):814-8. Epub 2007 Jul 20.

Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.jaad.2007.06.024DOI Listing
November 2007

Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.

J Clin Endocrinol Metab 2007 Oct 31;92(10):4000-8. Epub 2007 Jul 31.

Division of Pediatric Endocrinology, Department of Pediatrics, Hadassah Hebrew University Medical Centre, P.O. Box 24035, Jerusalem, Israel 91240.

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http://dx.doi.org/10.1210/jc.2007-1306DOI Listing
October 2007

Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.

Am J Med Genet A 2006 Aug;140(16):1785-8

Department of Molecular Genetics, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.31380DOI Listing
August 2006

The heart of children with steroid-resistant nephrotic syndrome: is it all podocin?

J Am Soc Nephrol 2006 Jan 16;17(1):227-31. Epub 2005 Nov 16.

Division of Pediatric Nephrology, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem, Israel 91031.

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http://dx.doi.org/10.1681/ASN.2005060653DOI Listing
January 2006

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.

Hum Mol Genet 2005 Dec 21;14(24):3911-20. Epub 2005 Nov 21.

Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel.

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http://academic.oup.com/hmg/article/14/24/3911/2355860/Delet
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http://dx.doi.org/10.1093/hmg/ddi415DOI Listing
December 2005

Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.

Am J Med Genet A 2005 Jul;136(3):246-8

Department of Human Genetics, Hadassah Hebrew University Medical Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.30823DOI Listing
July 2005

A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.

Am J Med Genet A 2004 Aug;129A(2):176-9

Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20621DOI Listing
August 2004

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.

Am J Med Genet 2002 Sep;112(1):75-8

Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1002/ajmg.10652DOI Listing
September 2002

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.

Prenat Diagn 2002 Aug;22(8):649-51

Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1002/pd.370DOI Listing
August 2002

Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.

Am J Med Genet 2002 Jan;107(3):209-13

Genetic Institute, Assaf Harofeh, Medical Center, Zerifin, Israel.

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http://dx.doi.org/10.1002/ajmg.10143DOI Listing
January 2002