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Israela Lerer

Research Profile

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Physiology

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Israel

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Anatomy

Chromosomes, Human, Pair 15

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Founder Effect

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Publications

TOP 3
S Edvardson; Chaim Jalas; Avraham Shaag; S Zenvirt; C Landau; Israela Lerer; Orly Elpeleg
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
Yael Goldberg; Rinnat M Porat; Inbal Kedar; Chen Shochat; Daliah Galinsky; Tamar Hamburger; Ayala Hubert; Hana Strul; Revital Kariiv; Liat Ben-Avi; Moran Savion; Eli Pikarsky; Dvorah Abeliovich; Dani Bercovich; Israela Lerer; Tamar Peretz
An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.
Annick Raas-Rothschild; Trijnie Dijkhuizen; Birgit Sikkema-Raddatz; Marion Werner; J Dagan; Dvorah Abeliovich; Israela Lerer
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

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All Publications

2011: S Edvardson; Chaim Jalas; Avraham Shaag; S Zenvirt; C Landau; Israela Lerer; Orly Elpeleg
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
American journal of medical genetics. Part A 2011;155A(5):1170-2.
2010: Yael Goldberg; Rinnat M Porat; Inbal Kedar; Chen Shochat; Daliah Galinsky; Tamar Hamburger; Ayala Hubert; Hana Strul; Revital Kariiv; Liat Ben-Avi; Moran Savion; Eli Pikarsky; Dvorah Abeliovich; Dani Bercovich; Israela Lerer; Tamar Peretz
An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.
Familial cancer 2010;9(2):141-50.
2009: Annick Raas-Rothschild; Trijnie Dijkhuizen; Birgit Sikkema-Raddatz; Marion Werner; J Dagan; Dvorah Abeliovich; Israela Lerer
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.
European journal of medical genetics 2009;52(2-3):140-4.
2008: Vered Molho-Pessach; Israela Lerer; Dvorah Abeliovich; Ziad Agha; Abdulasalam Abu Libdeh; Valentina Broshtilova; Orly Elpeleg; Abraham Zlotogorski
The H syndrome is caused by mutations in the nucleoside transporter hENT3.
American journal of human genetics 2008;83(4):529-34.
2008: Yael Goldberg; Rinnat M Porat; Inbal Kedar; Chen Shochat; Michal Sagi; Avital Eilat; Suzan Mendelson; Tamar Hamburger; Aviram Nissan; Ayala Hubert; Luna Kadouri; Eli Pikarski; Israela Lerer; Dvorah Abeliovich; Dani Bercovich; Tamar Peretz
Mutation spectrum in HNPCC in the Israeli population.
Familial cancer 2008;7(4):309-17.
2008: Amy Jean; Mahesh Mansukhani; Sharon E Oberfield; Ilene Fennoy; Jon Nakamoto; Maha Atwan; Israela Lerer; Ziva Ben Neriah; David H Zangen; Wendy Chung
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing.
Prenatal diagnosis 2008;28(1):11-4.
2007: Nizar Elleuch; Naima Bouslam; Sylvain Hanein; Alexander Lossos; Abdelmadjid Hamri; Stephan Klebe; Vardiella Meiner; Nazha Birouk; Israela Lerer; Djamel Grid; Delphine Bacq; Meriem Tazir; Diana Zelenika; Zohar Argov; Alexandra Durr; Mohamed Yahyaoui; Ali Benomar; Alexis Brice; Giovanni Stevanin
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.
Neurogenetics 2007;8(4):307-15.
2007: Vered Molho-Pessach; Ziad Agha; Diana Libster; Israela Lerer; Ayala Burger; Saleh Jaber; Dvorah Abeliovich; Abraham Zlotogorski
Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia.
Journal of the American Academy of Dermatology 2007;57(5):814-8.
2007: Maha Abdulhadi-Atwan; Amy Jean; Wendy Chung; Karen Meir; Ziva Ben-Neriah; George Stratigopoulos; Sharon E Oberfield; Ilene Fennoy; Harry J Hirsch; Amrit Bhangoo; Svetlana Ten; Israela Lerer; David H Zangen
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.
The Journal of clinical endocrinology and metabolism 2007;92(10):4000-8.
2007: Yael Goldberg; Rinnat Porat; Michal Sagi; Avital Eilat; Inbal Kedar; Chen Shochat; Suzan Mendelson; Tamar Hamburger; Aviram Nissan; Ayala Hubert; Stavit A Shalev; Dani Bercovich; Eli Pikarski; Israela Lerer; Dvorah Abeliovich; Tamar Pretetz
[A new oncogenetic service of counseling and diagnosing for hereditary non-polyposis colorectal cancer (HNPCC)].
Harefuah 2007;146(7):510-4, 576, 575.
2007: Luna Kadouri; Dani Bercovich; Arava Elimelech; Israela Lerer; Michal Sagi; Gila Glusman; Chen Shochat; Sigal Korem; Tamar Hamburger; Aviram Nissan; Nahil Abu-Halaf; Muhmud Badrriyah; Dvorah Abeliovich; Tamar Peretz
A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.
BMC cancer 2007;7():14.
2006: Isabella Wimplinger; Manuela Morleo; Georg Rosenberger; Daniela Iaconis; Ulrike Orth; Peter Meinecke; Israela Lerer; Andrea Ballabio; Andreas Gal; Brunella Franco; Kerstin Kutsche
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.
American journal of human genetics 2006;79(5):878-89.
2006: Fuad Fares; Miriam David; Aaron Lerner; Roni Diukman; Israela Lerer; Dvorah Abeliovich; Joseph Rivlin
Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.
American journal of medical genetics. Part A 2006;140(16):1785-8.
2006: Alexander Lossos; Giovanni Stevanin; Vardiella Meiner; Zohar Argov; Naima Bouslam; Joel P Newman; John Moshe Gomori; Stephan Klebe; Israela Lerer; Nizar Elleuch; Shira Silverstein; Alexandra Durr; Oded Abramsky; Ziva Ben-Nariah; Alexis Brice
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
Archives of neurology 2006;63(5):756-60.
2006: Yaacov Frishberg; Sofia Feinstein; Choni Rinat; Rachel Becker-Cohen; Israela Lerer; Annick Raas-Rothschild; Benjamin Ferber; Amiram Nir
The heart of children with steroid-resistant nephrotic syndrome: is it all podocin?
Journal of the American Society of Nephrology : JASN 2006;17(1):227-31.
2005: Israela Lerer; Michal Sagi; Vardiella Meiner; Tirza Cohen; Joël Zlotogora; Dvorah Abeliovich
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
Human molecular genetics 2005;14(24):3911-20.
2005: Adina Quint; Israela Lerer; Michal Sagi; Dvorah Abeliovich
Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.
American journal of medical genetics. Part A 2005;136(3):246-8.
2005: Alexander Lossos; Carol Dobson-Stone; Anthony P Monaco; Dov Soffer; Ezra Rahamim; Joel P Newman; Saidi Mohiddin; Lameh Fananapazir; Israela Lerer; Eduard Linetsky; Avinoam Reches; Zohar Argov; Oded Abramsky; Natan Gadoth; Menachem Sadeh; John Moshe Gomori; Moshe Boher; Vardiella Meiner
Early clinical heterogeneity in choreoacanthocytosis.
Archives of neurology 2005;62(4):611-4.
2005: Avihu Boneh; Stanley H Korman; Kenichi Sato; Junko Kanno; Yoichi Matsubara; Israela Lerer; Ziva Ben-Neriah; Shigeo Kure
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
Journal of human genetics 2005;50(5):230-4.
2004: Marion Werner; Ziva Ben-Neriah; Shira Silverstein; Israela Lerer; Yudith Dagan; Dvorah Abeliovich
A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.
American journal of medical genetics. Part A 2004;129A(2):176-9.
2003: Reeval Segel; Shira Silverstein; Israela Lerer; Esther Kahana; Rachel Meir; Michal Sagi; Nelly Zilber; Amos D Korczyn; Yehuda Shapira; Zohar Argov; Dvorah Abeliovich
Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations.
American journal of medical genetics. Part A 2003;119A(3):273-8.
2002: Annick Raas-Rothschild; Eyal Shteyer; Israela Lerer; Amiram Nir; Esther Granot; Azaria J J T Rein
Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.
American journal of medical genetics 2002;112(1):75-8.
2002: Shira Silverstein; Israela Lerer; Michal Sagi; Ayala Frumkin; Ziva Ben-Neriah; Dvorah Abeliovich
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.
Prenatal diagnosis 2002;22(8):649-51.
2002: Orit Reish; Israela Lerer; Aliza Amiel; Eli Heyman; Arie Herman; Tzipora Dolfin; Dvorah Abeliovich
Wiedemann-Beckwith syndrome: further prenatal characterization of the condition.
American journal of medical genetics 2002;107(3):209-13.
2001: Israela Lerer; Michal Sagi; Ziva Ben-Neriah; T Wang; Haya Levi; Dvorah Abeliovich
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
Human mutation 2001;18(5):460.
2001: T Wang; Israela Lerer; Z Gueta; Michal Sagi; Luna Kadouri; Tamar Peretz; Dvorah Abeliovich
A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion.
Genes, chromosomes & cancer 2001;31(1):91-5.
2001: Shira Silverstein; Israela Lerer; Karin Buiting; Dvorah Abeliovich
The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population.
American journal of human genetics 2001;68(1):261-3.
2000: Israela Lerer; Michal Sagi; E Malamud; Haya Levi; Annick Raas-Rothschild; Dvorah Abeliovich
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.
American journal of medical genetics 2000;95(1):53-6.
2000: Eldad Ben-Chetrit; Israela Lerer; E Malamud; C Domingo; Dvorah Abeliovich
The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?
Human mutation 2000;15(4):385-6.
1999: Karin Buiting; B Dittrich; Bernd Dworniczak; Israela Lerer; Dvorah Abeliovich; S Cottrell; I K Temple; J F Harvey; Christina Lich; Stephanie Gross; Bernhard Horsthemke
A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?
American journal of human genetics 1999;65(6):1588-94.
1999: A Laufer-Cahana; Israela Lerer; Michal Sagi; T Rachmilewitz-Minei; C Zamir; Joseph Rivlin; Dvorah Abeliovich
Cystic fibrosis mutations in Israeli Arab patients.
Human mutation 1999;14(6):543.
1999: Ayala Hubert; Tamar Peretz; O Manor; Luna Kaduri; N Wienberg; Israela Lerer; Michal Sagi; Dvorah Abeliovich
The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer.
American journal of human genetics 1999;65(3):921-4.
1999: Luna Kaduri; M Gibs; Ayala Hubert; Michal Sagi; Norman Heching; Israela Lerer; Beatrice Uziely; Noa Weinberg; Dvorah Abeliovich; Tamar Peretz
Genetic testing of breast and ovarian cancer patients: clinical characteristics and hormonal risk modifiers.
European journal of obstetrics, gynecology, and reproductive biology 1999;85(1):75-80.
1999: Israela Lerer; A Laufer-Cahana; Joseph Rivlin; A Augarten; Dvorah Abeliovich
A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online.
Human mutation 1999;13(4):337.
1998: Eitan Friedman; R Bar-Sade Bruchim; A Kruglikova; S Risel; Ephrat Levy-Lahad; David Halle; E Bar-On; Ruth Gershoni-Baruch; Efrat Dagan; I Kepten; Tamar Peretz; Israela Lerer; N Wienberg; A Shushan; A D Abeliovich
Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes.
American journal of human genetics 1998;63(4):1224-7.
1998: Israela Lerer; T Wang; Tamar Peretz; Michal Sagi; Luna Kaduri; Avi Orr-Urtreger; J Stadler; H Gutman; Dvorah Abeliovich
The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction.
American journal of human genetics 1998;63(1):272-4.
1997: M Bar; Eitan Friedman; O Jakobovitz; Gil Leibowitz; Israela Lerer; Dvorah Abeliovich; David J Gross
Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes.
Clinical endocrinology 1997;47(6):707-12.
1997: E I Arthur; Joël Zlotogora; Israela Lerer; J Dagan; K Marks; Dvorah Abeliovich
Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.
European journal of human genetics : EJHG 1997;5(6):417-9.
1997: Dvorah Abeliovich; Luna Kaduri; Israela Lerer; Noa Weinberg; G Amir; Michal Sagi; Joël Zlotogora; Norman Heching; Tamar Peretz
The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.
American journal of human genetics 1997;60(3):505-14.
1997: Ilana Ariel; Israela Lerer; Simcha Yagel; R Cohen; Ziva Ben-Neriah; Dvorah Abeliovich
Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation.
Prenatal diagnosis 1997;17(2):180-3.
1996: Dvorah Abeliovich; J Dagan; Israela Lerer; S Silberstein; M B Katznelson; M Frydman
t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.
American journal of medical genetics 1996;66(1):45-51.
1996: J Mitchell; Albert Schinzel; Sylvie Langlois; Gabriele Gillessen-Kaesbach; S Schuffenhauer; R Michaelis; Dvorah Abeliovich; Israela Lerer; Susan L Christian; M Guitart; Deborah E McFadden; Wendy P Robinson
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
American journal of medical genetics 1996;65(2):133-6.
1996: S Bar-David; Israela Lerer; C K Sarfaty; Z G Kohan; Vardiella Meiner; Joël Zlotogora; Dvorah Abeliovich
Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2.
American journal of medical genetics 1996;64(1):83-8.
1996: Dvorah Abeliovich; A Quint; Noa Weinberg; G Verchezon; Israela Lerer; J Ekstein; E Rubinstein
Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency.
European journal of human genetics : EJHG 1996;4(6):338-41.
1996: Israela Lerer; D Merims; Dvorah Abeliovich; Joël Zlotogora; N Gadoth
Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.
European journal of human genetics : EJHG 1996;4(1):3-7.
1996: Dvorah Abeliovich; O Yehuda; Arnon Nagler; Israela Lerer; S Ben-Neriah; A Amar; Reuven Or
Predominant 45,X,--Y karyotype in donor cells after allogeneic BMT: cytogenetic and molecular analysis.
Cancer genetics and cytogenetics 1996;86(1):1-7.
1995: Dvorah Abeliovich; Z Gelman-Kohan; S Silverstein; Israela Lerer; J Chemke; Saul Merin; Joël Zlotogora
Familial café au lait spots: a variant of neurofibromatosis type 1.
Journal of medical genetics 1995;32(12):985-6.
1995: Joël Zlotogora; Israela Lerer; S Bar-David; Z Ergaz; Dvorah Abeliovich
Homozygosity for Waardenburg syndrome.
American journal of human genetics 1995;56(5):1173-8.
1995: Dvorah Abeliovich; J Dagan; M Werner; Israela Lerer; Y Shapira; Vardiella Meiner
Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.
European journal of human genetics : EJHG 1995;3(1):49-55.
1994: S Elyakim; Israela Lerer; Joël Zlotogora; Michal Sagi; Z Gelman-Kohan; Saul Merin; Dvorah Abeliovich
Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool.
American journal of medical genetics 1994;53(4):325-34.
1994: Israela Lerer; Vardiella Meiner; I Pashut-Lavon; Dvorah Abeliovich
Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.
American journal of medical genetics 1994;52(1):79-84.
1994: Karin Buiting; B Dittrich; Wendy P Robinson; M Guitart; Dvorah Abeliovich; Israela Lerer; Bernhard Horsthemke
Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.
Human molecular genetics 1994;3(6):893-5.
1994: Dvorah Abeliovich; Israela Lerer; I Pashut-Lavon; T Cohen
Myotonic dystrophy: molecular analysis of Israeli patients.
Biomedicine & pharmacotherapy = Biomédecine & pharmacothérapie 1994;48(8-9):373-80.
1993: Dvorah Abeliovich; Israela Lerer; I Pashut-Lavon; E Shmueli; A Raas-Rothschild; M Frydman
Negative expansion of the myotonic dystrophy unstable sequence.
American journal of human genetics 1993;52(6):1175-81.
1992: Dvorah Abeliovich; I P Lavon; Israela Lerer; T Cohen; C Springer; Avraham Avital; Garry R Cutting
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
American journal of human genetics 1992;51(5):951-6.
1992: Garry R Cutting; S M Curristin; E Nash; Beryl J Rosenstein; Israela Lerer; Dvorah Abeliovich; A Hill; C Graham
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
American journal of human genetics 1992;50(6):1185-94.
1992: Israela Lerer; Michal Sagi; Garry R Cutting; Dvorah Abeliovich
Cystic fibrosis mutations delta F508 and G542X in Jewish patients.
Journal of medical genetics 1992;29(2):131-3.
1991: S Ben-Neriah; A Abramov; Israela Lerer; Aaron Polliack; R Leizerowitz; R Rabinowitz; Dvorah Abeliovich
"Jumping translocation" in a 17-month-old child with mixed-lineage leukemia.
Cancer genetics and cytogenetics 1991;56(2):223-9.
1991: Israela Lerer; S Cohen; M Chemke; A Friedmen; Dvorah Abeliovich
The delta F508 mutation in Israeli CF families.
Advances in experimental medicine and biology 1991;290():365-6.
1990: Israela Lerer; S Cohen; M Chemke; A Sanilevich; Joseph Rivlin; A Golan; J Yahav; A Friedman; Dvorah Abeliovich
The frequency of the delta F508 mutation on cystic fibrosis chromosomes in Israeli families: correlation to CF haplotypes in Jewish communities and Arabs.
Human genetics 1990;85(4):416-7.