Avi Orr-Urtreger

Summary

Country: Israel

Publications

  1. ncbi request reprint Increased sensitivity to nicotine-induced seizures in mice heterozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor
    Ziv Gil
    Department of Otolaryngology Head and Neck Surgery, Tel Aviv Sourasky Medical Center, Sackler Medical School, Tel Aviv University, Israel
    Neuroreport 13:191-6. 2002
  2. doi request reprint Predictive value of TP53 fluorescence in situ hybridization in cytogenetic subgroups of acute myeloid leukemia
    Sigal Tavor
    Department of Hematology and Bone Marrow Transplantation, Tel Aviv Sourasky Medical Center, Israel
    Leuk Lymphoma 52:642-7. 2011
  3. doi request reprint Gait alterations in healthy carriers of the LRRK2 G2019S mutation
    Anat Mirelman
    Movement Disorders Unit, Department of NeurologyTel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Ann Neurol 69:193-7. 2011
  4. ncbi request reprint Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6
    Anat Bar-Shira
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Prostate 66:1052-60. 2006
  5. ncbi request reprint RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients
    Avi Orr-Urtreger
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, 64239 Tel Aviv, Israel
    Cancer Epidemiol Biomarkers Prev 15:474-9. 2006
  6. ncbi request reprint The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?
    A Orr-Urtreger
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Neurology 69:1595-602. 2007
  7. pmc Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease
    Merav Kedmi
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Mol Neurodegener 6:66. 2011
  8. ncbi request reprint The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1 alpha is associated with increased risk for prostate cancer
    Avi Orr-Urtreger
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Prostate 67:8-13. 2007
  9. doi request reprint The age at motor symptoms onset in LRRK2-associated Parkinson's disease is affected by a variation in the MAPT locus: a possible interaction
    Ziv Gan-Or
    The Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel
    J Mol Neurosci 46:541-4. 2012
  10. pmc A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews
    Hanna Rennert
    Genetic Institute, Tel Aviv Sourasky Medical Center, Israel
    Am J Hum Genet 71:981-4. 2002

Collaborators

Detail Information

Publications64

  1. ncbi request reprint Increased sensitivity to nicotine-induced seizures in mice heterozygous for the L250T mutation in the alpha7 nicotinic acetylcholine receptor
    Ziv Gil
    Department of Otolaryngology Head and Neck Surgery, Tel Aviv Sourasky Medical Center, Sackler Medical School, Tel Aviv University, Israel
    Neuroreport 13:191-6. 2002
    ..These findings further suggest an important role for alpha7 nAChRs in the nicotine-induced seizures model of epilepsy...
  2. doi request reprint Predictive value of TP53 fluorescence in situ hybridization in cytogenetic subgroups of acute myeloid leukemia
    Sigal Tavor
    Department of Hematology and Bone Marrow Transplantation, Tel Aviv Sourasky Medical Center, Israel
    Leuk Lymphoma 52:642-7. 2011
    ..TP53 FISH analysis carried out at diagnosis has a predictive value with respect to chemotherapy response and can therefore facilitate a rapid decision on treatment strategies...
  3. doi request reprint Gait alterations in healthy carriers of the LRRK2 G2019S mutation
    Anat Mirelman
    Movement Disorders Unit, Department of NeurologyTel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Ann Neurol 69:193-7. 2011
    ..These findings support the possibility of previously unidentified, presymptomatic motor changes among relatives who have an increased risk of developing PD...
  4. ncbi request reprint Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6
    Anat Bar-Shira
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Prostate 66:1052-60. 2006
    ..MSR1, PTEN, and KLF6 have been implicated as candidate susceptibility genes for prostate tumorigenesis...
  5. ncbi request reprint RNASEL mutation screening and association study in Ashkenazi and non-Ashkenazi prostate cancer patients
    Avi Orr-Urtreger
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, 64239 Tel Aviv, Israel
    Cancer Epidemiol Biomarkers Prev 15:474-9. 2006
    ..Taken together, our analysis does not support a role for the RNASEL 471delAAAG Ashkenazi mutation nor for the other alterations detected in RNASEL in prostate cancer risk in Jewish men...
  6. ncbi request reprint The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?
    A Orr-Urtreger
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Neurology 69:1595-602. 2007
    ..The G2019S change in LRRK2 exon 41 has been associated with disease at varying frequencies in Asian, European, North American, and North African populations, and is particularly prevalent among Ashkenazi Jews...
  7. pmc Decreased expression of B cell related genes in leukocytes of women with Parkinson's disease
    Merav Kedmi
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Mol Neurodegener 6:66. 2011
    ..abstract:..
  8. ncbi request reprint The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1 alpha is associated with increased risk for prostate cancer
    Avi Orr-Urtreger
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Prostate 67:8-13. 2007
    ..Increased levels of HIF-1 activity are associated with increased tumor aggressiveness, therapeutic resistance, and mortality...
  9. doi request reprint The age at motor symptoms onset in LRRK2-associated Parkinson's disease is affected by a variation in the MAPT locus: a possible interaction
    Ziv Gan-Or
    The Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel
    J Mol Neurosci 46:541-4. 2012
    ..7 ± 11.6) among carriers of the C/C genotype (p = 0.025). Our results further support a possible interaction between genetic factors in the MAPT region and the LRRK2 gene, which influence the clinical course of PD patients...
  10. pmc A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews
    Hanna Rennert
    Genetic Institute, Tel Aviv Sourasky Medical Center, Israel
    Am J Hum Genet 71:981-4. 2002
    ..However, additional studies are required to determine whether this mutation confers increased risk for PRCA in this population...
  11. ncbi request reprint Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation
    Anat Mirelman
    Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel School of Health Related Professions, Ben Gurion University, Beer Sheba, Israel
    Mov Disord 28:1683-90. 2013
    ..Therapeutic approach specifically designed to delay gait disturbances and falls may be justified in patients who carry the G2019S mutation...
  12. doi request reprint Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries
    Anat Bar-Shira
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, 64239, Israel
    Neurogenetics 10:355-8. 2009
    ..Using a maximum-likelihood method, we estimate that Ashkenazi Jews with G2019S share a common ancestor who lived approximately 1,830 (95% CI 1,560-2,160) years ago, around the second century, after the second Jewish Diaspora...
  13. ncbi request reprint Lower core body temperature and attenuated nicotine-induced hypothermic response in mice lacking the beta4 neuronal nicotinic acetylcholine receptor subunit
    Ram Sack
    The Genetics Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann St, Tel Aviv 64239, Israel
    Brain Res Bull 66:30-6. 2005
    ..These findings suggest the involvement of the beta4 nAChR subunit in both core body temperature homeostasis and nicotine-elicited thermo-alterations in mice...
  14. ncbi request reprint Deficiency of nicotinic acetylcholine receptor beta 4 subunit causes autonomic cardiac and intestinal dysfunction
    Ningshan Wang
    Department of Physiology and Pharmacology, Sackler Medical School, Genetic Institute, Tel Aviv University, Ramat Aviv, Israel
    Mol Pharmacol 63:574-80. 2003
    ..Deficiency of beta 4 subunits altered ion channel properties, conductance, and sensitivity and affinity of receptors to agonists and antagonists, affecting ganglionic transmission...
  15. ncbi request reprint Expression changes in mouse brains following nicotine-induced seizures: the modulation of transcription factor networks
    Merav Kedmi
    Genetic Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Physiol Genomics 30:242-52. 2007
    ..The differentially expressed genes detected here can help us to understand the molecular mechanisms underlying seizures in animal models and may also serve as candidate genes to study epilepsy in humans...
  16. doi request reprint Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease
    Ziv Gan-Or
    The Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Neurogenetics 12:325-32. 2011
    ..184A/A genotype (35.9%, compared to 13.6-17.5%, p = 0.028). Our results raise the possibility that alteration on the opposite allele, which is in trans to the GBA mutant allele, may affect the clinical course of GBA-associated PD...
  17. doi request reprint Association of sequence alterations in the putative promoter of RAB7L1 with a reduced parkinson disease risk
    Ziv Gan-Or
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann St, Tel Aviv 64239, Israel
    Arch Neurol 69:105-10. 2012
    ....
  18. ncbi request reprint Decreased first trimester PAPP-A is a predictor of adverse pregnancy outcome
    Yuval Yaron
    Prenatal Diagnosis Unit, Genetic Institute, Sourasky Medical Center, Tel Aviv, Israel
    Prenat Diagn 22:778-82. 2002
    ..Low levels of PAPP-A have also been implicated in spontaneous miscarriage. The purpose of this study was to evaluate whether low levels of first trimester PAPP-A are predictive of other adverse pregnancy outcomes...
  19. ncbi request reprint Differential brain transcriptome of beta4 nAChR subunit-deficient mice: is it the effect of the null mutation or the background strain?
    Merav Kedmi
    Genetic Institute, Tel Aviv Sourasky Medical Center, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Physiol Genomics 28:213-22. 2007
    ..They also emphasize the need for careful interpretation of expression microarray studies done on genetically manipulated animals...
  20. ncbi request reprint Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures
    Merav Kedmi
    Genetic Institute, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Physiol Genomics 17:221-9. 2004
    ..However, the alpha5-subunit, but not the beta4-subunit, regulates the rate of response to high doses of nicotine...
  21. pmc Functional analysis of the Aurora Kinase A Ile31 allelic variant in human prostate
    Noa Matarasso
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Neoplasia 9:707-15. 2007
    ..6-fold; P < .05). In summary, our data suggest an association between the AURKA Ile31 allele and an altered transcriptome in normal non-neoplastic prostates...
  22. doi request reprint A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews
    Shay Ben-Shachar
    The Genetic Institute and Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Mol Genet Metab 107:608-10. 2012
    ..Given the disease severity and allele frequency, a population screening for individuals of this ancestry is warranted in order to allow prenatal, or preimplantation diagnosis...
  23. pmc Lower cognitive performance in healthy G2019S LRRK2 mutation carriers
    Avner Thaler
    Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Israel
    Neurology 79:1027-32. 2012
    ..To assess cognitive abilities of healthy first-degree relatives of Ashkenazi patients with Parkinson disease (PD), carriers of the G2019S mutation in the LRRK2 gene...
  24. ncbi request reprint Cytogenetic analysis of sinonasal carcinomas
    Ziv Gil
    Skull Base Surgery Unit, Department of Otolaryngology Head and Neck Surgery, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Otolaryngol Head Neck Surg 134:654-60. 2006
    ..Due to their low frequency, the cytogenetic data on these tumors is limited...
  25. doi request reprint Fighting the risk of developing Parkinson's disease; clinical counseling for first degree relatives of patients with Parkinson's disease
    Nir Giladi
    Movement Disorders Unit, Department of Neurology, Tel Aviv University, Tel Aviv, Israel
    J Neurol Sci 310:17-20. 2011
    ..In Israel, there is a large group of Ashkenazi Jews at risk of developing PD due to high frequency of PD associated mutations in 2 genes (GBA and LRRK2)...
  26. ncbi request reprint Cytogenetic analysis of 101 skull base tumors
    Ziv Gil
    Department of Otolaryngology Head and Neck Surgery, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    Head Neck 30:567-81. 2008
    ..Skull base tumors are rare neoplasms and the cytogenetic data on these tumors are limited. The authors cytogenetically analyzed a large series of tumors and compared the findings with patients' pathologic data...
  27. ncbi request reprint Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia. Evidence for a founder effect
    Paul Rozen
    Department of Gastroenterology, Tel Aviv Medical Center, 6 Weizmann Street, 64239 Tel Aviv, Israel
    Cancer 94:2561-8. 2002
    ..4% of those who had familial colorectal neoplasia, but also in 1.6% of non-Ashkenazi control participants. In this study, they evaluated its use in a screening program for familial colorectal neoplasia and examined for a founder effect...
  28. ncbi request reprint MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome
    Yuval Yaron
    Genetic Institute and Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Israel
    Hum Mutat 20:323-4. 2002
    ..Our results suggest that mutation-negative cases should be further assessed for gross rearrangements and that molecular analysis of the parents is often required when previously undescribed sequence alterations are detected...
  29. ncbi request reprint A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers
    Avner Thaler
    Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel Sackler School of Medicine, Sagol School for Neuroscience, Tel Aviv University, Tel Aviv, Israel
    Mov Disord 29:823-7. 2014
    ..Patients with Parkinson's disease have reduced gray matter volume and fractional anisotropy in both cortical and sub-cortical structures, yet changes in the pre-motor phase of the disease are unknown...
  30. pmc The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
    Ziv Gan-Or
    Genetic Institute and Movement Disorders Unit, Parkinson Center, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Neurology 80:1606-10. 2013
    ..To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and mucolipidosis type IV diseases, respectively) with Parkinson disease (PD)...
  31. doi request reprint The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews
    Avner Thaler
    Department of Neurology, Sourasky Medical Center, Tel Aviv, Israel
    J Neural Transm 116:1473-82. 2009
    ....
  32. ncbi request reprint The clinical application of spectral karyotyping (SKY) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs)
    Yuval Yaron
    Prenatal Diagnosis Unit and Genetic Institute, Sourasky Medical Center, Tel Aviv, Israel
    Prenat Diagn 23:74-9. 2003
    ..The purpose of this study was to evaluate the use of SKY in the characterization of prenatally diagnosed de novo ESACs...
  33. ncbi request reprint Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews
    Ofer Lehavi
    Prenatal Diagnosis Division, Genetic Institute and Department of Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv, Israel
    Genet Test 7:139-42. 2003
    ..The incidence of FD among AJ, particularly those of Polish background, warrants population screening. Population screening may be performed by denaturing high-performance liquid chromatography...
  34. ncbi request reprint Neural correlates of executive functions in healthy G2019S LRRK2 mutation carriers
    Avner Thaler
    Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Israel Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel Electronic address
    Cortex 49:2501-11. 2013
    ....
  35. ncbi request reprint Maternal serum HCG is higher in the presence of a female fetus as early as week 3 post-fertilization
    Yuval Yaron
    Prenatal Diagnosis Unit, Genetic Institute, Lis Maternity Hospital, Sourasky Medical Center, Tel Aviv, Israel
    Hum Reprod 17:485-9. 2002
    ..This has been demonstrated in the second and third trimesters of pregnancy, and recently at 10-14 weeks gestation. In this study we assessed whether this gender-related difference can be detected as early as week 3 post-fertilization...
  36. doi request reprint Genetic testing in Israel: an overview
    Guy Rosner
    The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Annu Rev Genomics Hum Genet 10:175-92. 2009
    ..Culturally appropriate genetic programs have been initiated in religious Jewish and non-Jewish communities in an attempt to overcome cultural barriers and reduce the frequency of severe genetic diseases nationwide...
  37. ncbi request reprint Combined cytogenetic and array-based comparative genomic hybridization analyses of Wilms tumors: amplification and overexpression of the multidrug resistance associated protein 1 gene (MRP1) in a metachronous tumor
    Myriam Goldstein
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel
    Cancer Genet Cytogenet 141:120-7. 2003
    ..Isolated amplification and overexpression of the MRP1 gene in the metachronous WT, however, suggest that this gene may be an important factor in the development and progression of metachronous tumors...
  38. ncbi request reprint Cytogenetic analysis of three variants of clival chordoma
    Ziv Gil
    Skull Base Surgery Unit, Department of Otolaryngology Head and Neck Surgery, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv 64239, Israel
    Cancer Genet Cytogenet 154:124-30. 2004
    ..The cytogenetic analysis of the dedifferentiated chordoma showed a polyploid complex karyotype of 71-123 chromosomes with double minutes that originated from chromosome 17...
  39. doi request reprint Tnfα, Cox2 and AdipoQ adipokine gene expression levels are modulated in murine adipose tissues by both nicotine and nACh receptors containing the β2 subunit
    Alona Gochberg-Sarver
    The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Mol Genet Metab 107:561-70. 2012
    ..Together, our data suggest a molecular link between the β2 nACh receptor subunit and the expression levels of specific adipokines, which is also affected by nicotine...
  40. pmc Novel genes implicated in embryonal, alveolar, and pleomorphic rhabdomyosarcoma: a cytogenetic and molecular analysis of primary tumors
    Myriam Goldstein
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Neoplasia 8:332-43. 2006
    ..Our data suggest the involvement of genes encoding cell adhesion, cytoskeletal signaling, and transcriptional and cell cycle components in RMS tumorigenesis...
  41. ncbi request reprint Increased severity of experimental colitis in alpha 5 nicotinic acetylcholine receptor subunit-deficient mice
    Avi Orr-Urtreger
    The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel
    Neuroreport 16:1123-7. 2005
    ..These findings suggest that alpha5-containing nicotinic acetylcholine receptors participate in the modulation of colitis in mice, but other nicotinic acetylcholine receptor subunits also mediate the antiinflammatory effects of nicotine...
  42. ncbi request reprint Array-based comparative genome hybridization in clinical genetics
    Anat Bar-Shira
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel
    Pediatr Res 60:353-8. 2006
    ..Array-CGH is a powerful tool for the rapid and accurate detection of genetic disorders associated with copy number abnormalities and can significantly improve clinical genetic diagnosis and care...
  43. ncbi request reprint Multiple genes in human 20q13 chromosomal region are involved in an advanced prostate cancer xenograft
    Anat Bar-Shira
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel
    Cancer Res 62:6803-7. 2002
    ..Our data suggest these genes to be involved in advanced stages of prostate tumorigenesis and as such, they may serve as markers for tumor progression...
  44. ncbi request reprint CHRNB3 c.-57A>G functional promoter change affects Parkinson's disease and smoking
    Anat Bar-Shira
    The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Neurobiol Aging 35:2179.e1-6. 2014
    ..It is therefore possible that nicotine may be valuable for patients who carry this alteration and beneficial in PD only for patients with specific genotypes. ..
  45. ncbi request reprint Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations
    Nancy Gavert
    Department of Surgery B, Tel Aviv Sourasky Medical Center, Israel
    Hum Mutat 19:664. 2002
    ..These results further underscore the importance of complete analysis of all exons and exon/intron boundaries, in order to achieve maximal detection rate in patients suspected of FAP...
  46. ncbi request reprint FGFR1 over-expression in primary rhabdomyosarcoma tumors is associated with hypomethylation of a 5' CpG island and abnormal expression of the AKT1, NOG, and BMP4 genes
    Myriam Goldstein
    Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, 64239 Israel
    Genes Chromosomes Cancer 46:1028-38. 2007
    ..Our data suggest an important role for FGFR1 and FGFR1-downstream genes in RMS tumorigenesis and a possible association with the deregulation of proliferation and differentiation of skeletal myoblasts in RMS...
  47. ncbi request reprint Advances in the genetics of Parkinson's disease
    Serena Rosner
    The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel
    Acta Pharmacol Sin 29:21-34. 2008
    ..This review outlines the advances in the study of the genetic background of PD and their possible clinical implications...
  48. doi request reprint Large-scale population screening for spinal muscular atrophy: clinical implications
    Shay Ben-Shachar
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, Israel
    Genet Med 13:110-4. 2011
    ..To determine the frequency of SMN1 deletion carriers in the Israeli population and to assess the feasibility of population screening for spinal muscular atrophy...
  49. ncbi request reprint First trimester maternal serum free human chorionic gonadotropin as a predictor of adverse pregnancy outcome
    Yuval Yaron
    Prenatal Diagnosis Unit, Genetic Institute, Lis Maternity Hospital, Sourasky Medical Center, Tel Aviv, Israel
    Fetal Diagn Ther 17:352-6. 2002
    ..The purpose of this study was to evaluate whether abnormal levels of first trimester maternal serum free human chorionic gonadotropin (beta-hCG) are predictive of adverse pregnancy outcomes...
  50. doi request reprint Undetected sex chromosome aneuploidy by chromosomal microarray
    Keren Markus-Bustani
    The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, 64239, Israel
    Prenat Diagn 32:1117-8. 2012
    ..Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting. © 2012 John Wiley & Sons, Ltd...
  51. pmc Subunit composition of α5-containing nicotinic receptors in the rodent habenula
    Petra Scholze
    Center for Brain Research, Medical University of Vienna, Vienna, Austria
    J Neurochem 121:551-60. 2012
    ..Observations in β2 and β4 null mice indicate that although α5 requires the presence of the β4 subunit for assembling (but not of β2), α5 in wild-type mice assembles into receptors that also contain the subunits α3, β2, and β4...
  52. ncbi request reprint New genetic principles
    Yuval Yaron
    Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Israel
    Clin Obstet Gynecol 45:593-604; discussion 730-2. 2002
  53. pmc The effects of aging vs. α7 nAChR subunit deficiency on the mouse brain transcriptome: aging beats the deficiency
    Merav Kedmi
    Genetic Institute, Tel Aviv Sourasky Medical Center, 6 Weizmann Street, Tel Aviv, Israel
    Age (Dordr) 33:1-13. 2011
    ....
  54. ncbi request reprint Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy
    Mira Malcov
    Sara Racine in vitro Fertilization Unit, Lis Maternity Hospital, Tel Aviv, Israel
    Fetal Diagn Ther 19:199-206. 2004
    ..Our objective was to develop an accurate and reliable single-cell multiplex nested PCR analysis for PGD of SMA...
  55. ncbi request reprint Two novel translocations, t(2;4)(q35;q31) and t(X;12)(q22;q24), as the only karyotypic abnormalities in a malignant peripheral nerve sheath tumor of the skull base
    Ziv Gil
    Department of Otolaryngology Head and Neck Surgery, Tel Aviv University, Tel Aviv, Israel
    Cancer Genet Cytogenet 145:139-43. 2003
    ..To the best of our knowledge, apparently balanced translocations have not been identified previously in MPNST...
  56. ncbi request reprint Nicotinic acetylcholine receptor alpha5 subunits modulate oxotremorine-induced salivation and tremor
    Ningshan Wang
    Department of Physiology and Pharmacology, Sackler Medical School, Tel Aviv University, Tel Aviv, Israel
    J Neurol Sci 222:87-91. 2004
    ..The enhanced OXO effects in alpha5-/- mice indicate inhibitory effects of alpha5 subunits in autonomic ganglia, and support the participation of these subunits in cholinergic transmission in autonomic ganglia...
  57. ncbi request reprint Initial experience of videocapsule endoscopy for diagnosing small-bowel tumors in patients with GI polyposis syndromes
    Olga Barkay
    Department of Gastroenterology, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel
    Gastrointest Endosc 62:448-52. 2005
    ..These tumors are difficult to detect with conventional techniques. Our aim was to assess the utility of videocapsule endoscopy in the detection of small-bowel tumors in this setting...
  58. ncbi request reprint A comparison between maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A levels in first-trimester twin and singleton pregnancies
    Roy Mashiach
    Prenatal Diagnosis Unit, Genetic Institute, Sourasky Medical Center, Sourasky, Tel Aviv, Israel
    Fetal Diagn Ther 19:174-7. 2004
    ..To determine the levels of first-trimester free beta-human chorionic gonadotrophin (free betahCG), pregnancy-associated plasma protein A (PAPP-A) and nuchal translucency (NT) in twin pregnancies...
  59. ncbi request reprint Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases
    Shachar Zuckerman
    Hebrew University Hadassah Medical School, Jerusalem, Israel
    JAMA 298:1281-90. 2007
    ..Carrier screening for GD is controversial because common type 1 GD is often asymptomatic and effective treatment exists. However, screening is offered to Ashkenazi Jews worldwide and has been offered in Israel since 1995...
  60. ncbi request reprint Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population
    Mordechai Shohat
    Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
    Am J Med Genet A 122:215-22. 2003
    ..Unexpectedly, the introduction between 1995 and 2000 of new genetic methods to assess the DS risk did not improve the percentage detected or reduce the amniocentesis rate, and was accompanied by an increased cost per case detected...
  61. ncbi request reprint [Detection and identification of a biological attack]
    Avi Orr-Urtreger
    Genetics Unit, Tel Aviv Medical Center, Sackler Medical School, Tel Aviv University
    Harefuah 141:29-30, 122. 2002
    ..Further signs also include the identification of the roots of transmission, the contagious patterns of bioterrorism agents and possible unusual findings in laboratory tests and in animals...
  62. pmc Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    Sharon Simchoni
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 103:3770-4. 2006
    ....
  63. ncbi request reprint An alternative spliced RNASEL variant in peripheral blood leukocytes
    Hanna Rennert
    Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, NY 10012, USA
    J Interferon Cytokine Res 26:820-6. 2006
    ..Our results suggest that RNase L plays an important role in granulocytes as an innate immunity enzyme that controls viral infections...
  64. ncbi request reprint Rett syndrome: clinical manifestations in males with MECP2 mutations
    Bruria Ben Zeev
    Department of Pediatric Neurology, Sheba Medical Center, Tel Hashomer, Israel
    J Child Neurol 17:20-4. 2002
    ....