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Esther Leshinsky-Silver

Research Profile

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Infants
Jews

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Israel

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TOP 3
Ayelet Zerem; Lubov Blumkin; Sara Kivity; Esther Leshinsky-Silver; Dorit Lev; Daniella Nishri; Yael Yosef; Tally Lerman-Sagie
Resolution of epileptic encephalopathy following treatment with transdermal nicotine.
Esther Leshinsky-Silver; Dorit Lev; Menachem Sadeh; Ron Dabby; Mira Ginzberg; Tally Lerman-Sagie
Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene.
Lubov Blumkin; Sarit Cohen; Sara Kivity; Tally Lerman-Sagie; Dorit Lev; Ruth Shomrat; Esther Leshinsky-Silver
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.

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2013: Ayelet Zerem; Lubov Blumkin; Sara Kivity; Esther Leshinsky-Silver; Dorit Lev; Daniella Nishri; Yael Yosef; Tally Lerman-Sagie
Resolution of epileptic encephalopathy following treatment with transdermal nicotine.
Epilepsia 2013;54(1):e13-5.
2013: Esther Leshinsky-Silver; Dorit Lev; Menachem Sadeh; Ron Dabby; Mira Ginzberg; Tally Lerman-Sagie
Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2013;17(1):64-7.
2012: Lubov Blumkin; Sarit Cohen; Sara Kivity; Tally Lerman-Sagie; Dorit Lev; Ruth Shomrat; Esther Leshinsky-Silver
A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.
Journal of neurology 2012;259(12):2590-8.
2012: Johann Böhm; Mira Ginzberg; Bernard Jost; Stéphanie Le Gras; Tally Lerman-Sagie; Esther Leshinsky-Silver; Dorit Lev; Stéphane Vassilopoulos; Jocelyn Laporte
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
Acta neuropathologica 2012;124(4):575-81.
2012: Miri Yanoov-Sharav; Marina Michelson; Menahem Sadeh; Chana Vinkler; Sarit Cohen; Mira Ginzberg; Tally Lerman-Sagie; Esther Leshinsky-Silver; Dorit Lev
Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.
Journal of genetic counseling 2012;21(4):557-63.
2012: Lubov Blumkin; Ron Dabby; Peter De Jonghe; Tine Deconinck; Sara Kivity; Esther Leshinsky-Silver; Dorit Lev; Ilan Linder; Arvid Suls; Tally Lerman-Sagie
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2012;16(4):356-60.
2012: Marina Michelson; Ifat Netzer; Chana Vinkler; Anat Ben-Sasson; Ayala Frumkin; Sara Kivity; Tally Lerman-Sagie; Esther Leshinsky-Silver; Dorit Lev
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.
American journal of medical genetics. Part A 2012;158A(6):1395-9.
2012: Esther Leshinsky-Silver; Mira Ginsberg; Tally Lerman-Sagie; Daniel Shapira; Keren Yosovitz; Dorit Lev
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
Journal of the neurological sciences 2012;316(1-2):112-5.
2012: Peter Bauer; Lubov Blumkin; Tally Lerman-Sagie; Esther Leshinsky-Silver; Dorit Lev; Olaf Riess; Julia Schicks; Nina Schlipf; Christopher Schröder; Ludger Schöls
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
Neurogenetics 2012;13(1):73-6.
2011: Ayelet Zerem; Tally Lerman-Sagie; Esther Leshinsky-Silver; Marina Michelson; Chana Vinkler; Dorit Lev
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.
American journal of medical genetics. Part A 2011;155A(12):2991-6.
2011: Ilan Dalal; Amos Etzioni; Ben-Zion Garti; Dorit Lev; Raz Somech; Eli Somekh; Diana Tasher; Sarit Cohen; Esther Leshinsky-Silver
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
Clinical immunology (Orlando, Fla.) 2011;140(3):284-90.
2011: Talin Haritunians; Andrew Ippoliti; Michelle Jones; Lily King; Esther Leshinsky-Silver; Arie Levine; Dermot P B McGovern; Gil Y Melmed; Emebet Mengesha; Jerome I Rotter; David Q Shih; Stephan R Targan; Robert J Barrett; Carrie Derkowski; Marla C Dubinsky; Debra Dutridge; Phillip R Fleshner; Eric A Vasilauskas; Shabnam Ziaee; Kent D Taylor
Variants in ZNF365 isoform D are associated with Crohn's disease.
Gut 2011;60(8):1060-7.
2011: Lubov Blumkin; Tally Lerman-Sagie; Dorit Lev; Keren Yosovich; Esther Leshinsky-Silver
A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
Journal of the neurological sciences 2011;305(1-2):67-70.
2011: Christoph Gasche; Walter Reinisch; Wolf-Dietrich Huber; Esther Leshinsky-Silver; Arie Levine; Heitham Abdul-Baki; Ala I Sharara; Yousef Ajlouni; abdelaziz sefiani
IL-10RA truncation mutations and Semite populations.
Inflammatory bowel diseases 2011;17(6):1438.
2011: Marina Michelson; Avi Eden; Chana Vinkler; Esther Leshinsky-Silver; Uri Kremer; Tally Lerman-Sagie; Dorit Lev
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011;15(3):230-3.
2011: Esther Leshinsky-Silver; Ruslan Shuvalov; Shani Inbar; Sarit Cohen; Dorit Lev; Tally Lerman-Sagie
Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.
Journal of child neurology 2011;26(4):476-81.
2011: Esther Leshinsky-Silver; Gustavo Malinger; Liat Ben-Sira; Dvora Kidron; Sarit Cohen; Shani Inbar; Tali Bezaleli; Arie Levine; Chana Vinkler; Dorit Lev; Tally Lerman-Sagie
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
European journal of human genetics : EJHG 2011;19(3):287-92.
2011: Ron Dabby; Menachem Sadeh; Ronit Gilad; Yair Lampl; Sarit Cohen; Shani Inbar; Esther Leshinsky-Silver
Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.
Journal of the neurological sciences 2011;301(1-2):90-2.
2010: Orly Agamy; Bruria Ben-Zeev; Dorit Lev; Barak Marcus; Dina Fine; Dan Su; Ginat Narkis; Rivka Ofir; Chen Hoffmann; Esther Leshinsky-Silver; Hagit Flusser; Sara Sivan; Dieter Söll; Tally Lerman-Sagie; Ohad Birk
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
American journal of human genetics 2010;87(4):538-44.
2010: Yoav Mazor; Amir Karban; Shula Nesher; Batia Weiss; Esther Leshinsky-Silver; Arie Levine; Rami Eliakim
Granulomas in Crohn's disease: are newly discovered genetic variants involved?
Journal of Crohn's & colitis 2010;4(4):438-43.
2010: Daniella Nishri; Lubov Blumkin; Dorit Lev; Esther Leshinsky-Silver; Mohammad Abu-Rashid; Rachael Birch; Sameer M Zuberi; Tally Lerman-Sagie
Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2010;14(5):456-9.
2010: Lubov Blumkin; Marina Michelson; Esther Leshinsky-Silver; Sara Kivity; Dorit Lev; Tally Lerman-Sagie
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
Journal of child neurology 2010;25(7):892-7.
2010: Esther Leshinsky-Silver; Dorit Lev; Gustavo Malinger; Daniel Shapira; Sarit Cohen; Tally Lerman-Sagie; Ann Saada (Reisch)
Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
Molecular genetics and metabolism 2010;100(1):65-70.
2010: Keren Sagiv-Friedgut; Amir Karban; Batya Weiss; Ron Shaoul; Raanan Shamir; Yoram Bujanover; Shimon Reif; Mona Boaz; Inbar Shani; Arie Levine; Esther Leshinsky-Silver
Early-onset Crohn disease is associated with male sex and a polymorphism in the IL-6 promoter.
Journal of pediatric gastroenterology and nutrition 2010;50(1):22-6.
2009: Esther Leshinsky-Silver; Anne-Sophie Lebre; Limor Minai; Ann Saada (Reisch); Julie Steffann; Sarit Cohen; Agnès Rötig; Arnold Munnich; Dorit Lev; Tally Lerman-Sagie
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Molecular genetics and metabolism 2009;97(3):185-9.
2008: Esther Leshinsky-Silver; M Michelson; S Cohen; M Ginsberg; Menachem Sadeh; V Barash; Tally Lerman-Sagie; Dorit Lev
A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(4):309-13.
2008: Ingrid Tein; Orly Elpeleg; Bruria Ben-Zeev; Stanley H Korman; Alexander Lossos; Dorit Lev; Tally Lerman-Sagie; Esther Leshinsky-Silver; Jerry Vockley; Gerard T Berry; Anne-Marie Lamhonwah; Dietrich Matern; Charles R Roe; Niels Gregersen
Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Molecular genetics and metabolism 2008;93(2):179-89.
2007: Esther Leshinsky-Silver; Zohar Argov; L Rozenboim; S Cohen; Z Tzofi; Y Cohen; Y Wirguin; Ron Dabby; Dorit Lev; Menachem Sadeh
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.
Neuromuscular disorders : NMD 2007;17(11-12):950-4.
2007: Arie Levine; Subra Kugathasan; Vito Annese; Vincent Biank; Esther Leshinsky-Silver; Ofir Davidovich; Gad Kimmel; Ron Shamir; Orazio Palmieri; Palmieri Orazio; Amir Karban; Ulrich Broeckel; Salvatore Cucchiara
Pediatric onset Crohn's colitis is characterized by genotype-dependent age-related susceptibility.
Inflammatory bowel diseases 2007;13(12):1509-15.
2007: Esther Leshinsky-Silver; Amir Karban; Ilan Dalal; Rami Eliakim; Haim Shirin; Tzipi Tzofi; Mona Boaz; Arie Levine
Evaluation of the interleukin-23 receptor gene coding variant R381Q in pediatric and adult Crohn disease.
Journal of pediatric gastroenterology and nutrition 2007;45(4):405-8.
2007: Esther Leshinsky-Silver; Amir Karban; S Cohen; M Fridlander; O Davidowich; Gad Kimmel; Ron Shamir; Arie Levine
Lack of association of the 3'-UTR polymorphism in the NFKBIA gene with Crohn's disease in an Israeli cohort.
International journal of colorectal disease 2007;22(9):1021-5.
2007: Amir Karban; Maza Itay; Ofir Davidovich; Esther Leshinsky-Silver; Gad Kimmel; Herma H Fidder; Ron Shamir; Matti Waterman; Rami Eliakim; Arie Levine
Risk factors for perianal Crohn's disease: the role of genotype, phenotype, and ethnicity.
The American journal of gastroenterology 2007;102(8):1702-8.
2007: Dorit Lev; Yuval Weigl; Mariana Hasan; Eva Gak; Michael Davidovich; Chana Vinkler; Esther Leshinsky-Silver; Tally Lerman-Sagie; Nathan Watemberg
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.
American journal of medical genetics. Part A 2007;143A(9):921-4.
2007: Esther Leshinsky-Silver; Z Berman; Chana Vinkler; M Yannov-Sharav; Dorit Lev
Gene symbol: GJB2.
Human genetics 2007;121(2):296.
2006: Ilan Dalal; Amir Karban; Eytan Wine; Rami Eliakim; Haim Shirin; Marcelo Fridlender; Ron Shaoul; Esther Leshinsky-Silver; Arie Levine
Polymorphisms in the TNF-alpha promoter and variability in the granulomatous response in patients with Crohn's disease.
Pediatric research 2006;59(6):825-8.
2006: Esther Leshinsky-Silver; Suzanne Cheng; Michael A Grow; Schwartz Shoshana; Leah Scharf; Dorit Lev; Mona Boaz; Daniel Brunner; Reuven Zimlichman
Candidate gene polymorphism in cardiovascular disease: the BIP cohort.
The Israel Medical Association journal : IMAJ 2006;8(2):103-5.
2006: Esther Leshinsky-Silver; Zohar Landau; Sema Unlubay; Tzvy Bistrizer; Amnon Zung; Yardena Tenenbaum-Rakover; Liat Devries; Dorit Lev; Aaron Hanukoglu
Congenital hyperreninemic hypoaldosteronism in Israel: sequence analysis of CYP11B2 gene.
Hormone research 2006;66(2):73-8.
2005: Esther Leshinsky-Silver; Amir Karban; Erena Buzhakor; Marcelo Fridlander; Benjamin Yakir; Rami Eliakim; Shimon Reif; Roni Shaul; Mona Boaz; Dorit Lev; Arie Levine
Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort.
Pediatric research 2005;58(3):499-504.
2005: Esther Leshinsky-Silver; Dorit Lev; Z Tzofi-Berman; S Cohen; Ann Saada (Reisch); Miri Yanoov-Sharav; Eli Gilad; Tally Lerman-Sagie
Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
Biochemical and biophysical research communications 2005;334(2):582-7.
2005: Arie Levine; Raanan Shamir; Eytan Wine; Batya Weiss; Amir Karban; Ron Shaoul; Shimon Reif; Benjamin Yakir; Marcello Friedlander; Yael Kaniel; Esther Leshinsky-Silver
TNF promoter polymorphisms and modulation of growth retardation and disease severity in pediatric Crohn's disease.
The American journal of gastroenterology 2005;100(7):1598-604.
2005: Esther Leshinsky-Silver; Z Berman; Chana Vinkler; M Yannov-Sharav; Dorit Lev
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness.
Hearing research 2005;202(1-2):258-61.
2005: Tally Lerman-Sagie; Esther Leshinsky-Silver; Nathan Watemberg; Yehudit Luckman; Dorit Lev
White matter involvement in mitochondrial diseases.
Molecular genetics and metabolism 2005;84(2):127-36.
2004: Ron Shaoul; Amir Karban; Batia Weiss; Shimon Reif; Dror Wasserman; Avi Pacht; Rami Eliakim; Joram Wardi; Haim Shirin; Eytan Wine; Esther Leshinsky-Silver; Arie Levine
NOD2/CARD15 mutations and presence of granulomas in pediatric and adult Crohn's disease.
Inflammatory bowel diseases 2004;10(6):709-14.
2004: Eytan Wine; Shimon Reif; Esther Leshinsky-Silver; Batya Weiss; Ron Shaoul; Raanan Shamir; Dror Wasserman; Aaron Lerner; Mona Boaz; Arie Levine
Pediatric Crohn's disease and growth retardation: the role of genotype, phenotype, and disease severity.
Pediatrics 2004;114(5):1281-6.
2004: Dorit Lev; Andreea Nissenkorn; Esther Leshinsky-Silver; Menachem Sadeh; Avraham Zeharia; B-Z Garty; L Blieden; Varda Barash; Tally Lerman-Sagie
Clinical presentations of mitochondrial cardiomyopathies.
Pediatric cardiology 2004;25(5):443-50.
2004: Tally Lerman-Sagie; Nathan Watemberg; Chana Vinkler; Judith Fishhof; Esther Leshinsky-Silver; Dorit Lev
Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome.
Journal of child neurology 2004;19(7):522-5.
2004: Tally Lerman-Sagie; Esther Leshinsky-Silver; Nathan Watemberg; Dorit Lev
Should autistic children be evaluated for mitochondrial disorders?
Journal of child neurology 2004;19(5):379-81.
2003: Chana Vinkler; Dorit Lev; Hadas Kalish; Nathan Watemberg; Miri Yanoov-Sharav; Esther Leshinsky-Silver; Tally Lerman-Sagie
Familial optic atrophy with white matter changes.
American journal of medical genetics. Part A 2003;121A(3):263-5.
2003: Esther Leshinsky-Silver; A Levine; Andreea Nissenkorn; Varda Barash; M Perach; E Buzhaker; M Shahmurov; S Polak-Charcon; Dorit Lev; Tally Lerman-Sagie
Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency.
Molecular genetics and metabolism 2003;79(4):288-93.
2003: Joe K Ahn; Dorit Lev; Esther Leshinsky-Silver; Mira Ginzberg; Tally Lerman-Sagie
A new autosomal recessive syndrome with Zellweger-like manifestations.
American journal of medical genetics. Part A 2003;119A(3):352-5.
2003: Esther Leshinsky-Silver; Michal Perach; Erena Basilevsky; Eli Hershkovitz; Miri Yanoov-Sharav; Tally Lerman-Sagie; Dorit Lev
Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
Prenatal diagnosis 2003;23(1):31-3.
2002: Dorit Lev; Eli Gilad; Esther Leshinsky-Silver; Sion Houri; A Levine; Ann Saada (Reisch); Tally Lerman-Sagie
Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.
Journal of inherited metabolic disease 2002;25(5):371-7.
2002: Esther Leshinsky-Silver; Ami Zinger; Chaim N Bibi; Varda Barash; Menachem Sadeh; Dorit Lev; Tally Lerman-Sagie
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder.
European journal of human genetics : EJHG 2002;10(4):226-30.
2002: Dorit Lev; Miri Yanoov-Sharav; Nathan Watemberg; Esther Leshinsky-Silver; Tally Lerman-Sagie
White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2002;6(2):121-3.
2001: Tally Lerman-Sagie; P Rustin; Dorit Lev; M Yanoov; Esther Leshinsky-Silver; A Sagie; T Ben-Gal; A Munnich
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone.
Journal of inherited metabolic disease 2001;24(1):28-34.
2000: Esther Leshinsky-Silver; Dorit Lev; Tally Lerman-Sagie
[Mitochondrial diseases: molecular genetics and clinical applications].
Harefuah 2000;138(3):220-9.