Stavit A Shalev

Summary

Country: Israel

Publications

  1. ncbi request reprint Poland anomaly--report of an unusual family
    Stavit A Shalev
    Department of Medical Genetics and Pediatrics, British Columbia Childrens Hospital, Vancouver, British Columbia, Canada
    Am J Med Genet A 118:180-3. 2003
  2. ncbi request reprint Long-term follow-up of three individuals with Kabuki syndrome
    Stavit A Shalev
    Institute of Genetics, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 125:191-200. 2004
  3. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
  4. doi request reprint A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families
    Stavit A Shalev
    Genetic Institute, Emek Medical Center, Afula, Israel
    Eur J Med Genet 55:256-64. 2012
  5. ncbi request reprint Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for Down syndrome
    S A Shalev
    Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Prenat Diagn 26:782-4. 2006
  6. ncbi request reprint An association of Hutchinson-Gilford progeria and malignancy
    Stavit A Shalev
    The Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 143:1821-6. 2007
  7. ncbi request reprint Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene
    Stavit A Shalev
    The Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 140:162-5. 2006
  8. ncbi request reprint A syndrome characterized by intra-uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features
    Stavit A Shalev
    Ha Emek Medical Center, Institute of Genetics, Afula, Israel
    Am J Med Genet A 143:395-8. 2007
  9. ncbi request reprint Behavioral pattern profile: a tool for the description of behavior to be used in the genetics clinic
    Stavit A Shalev
    Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 128:389-95. 2004
  10. ncbi request reprint Another adult with Meier-Gorlin syndrome--insights into the natural history
    Stavit A Shalev
    Department of Medical Genetics, British Columbia Children s Hospital, Vancouver, British Columbia, Canada
    Clin Dysmorphol 12:167-9. 2003

Detail Information

Publications34

  1. ncbi request reprint Poland anomaly--report of an unusual family
    Stavit A Shalev
    Department of Medical Genetics and Pediatrics, British Columbia Childrens Hospital, Vancouver, British Columbia, Canada
    Am J Med Genet A 118:180-3. 2003
    ..The investigation of our family has not demonstrated an abnormality in coagulation, therefore, we surmise that an inherited structural variant of blood vessel formation is responsible...
  2. ncbi request reprint Long-term follow-up of three individuals with Kabuki syndrome
    Stavit A Shalev
    Institute of Genetics, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 125:191-200. 2004
    ..Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed...
  3. pmc Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
    Zippora Brownstein
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
    Genome Biol 12:R89. 2011
    ..Our subjects for genome analysis are Israeli Jewish and Palestinian Arab families with hearing loss that varies in mode of inheritance and severity...
  4. doi request reprint A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families
    Stavit A Shalev
    Genetic Institute, Emek Medical Center, Afula, Israel
    Eur J Med Genet 55:256-64. 2012
    ....
  5. ncbi request reprint Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for Down syndrome
    S A Shalev
    Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Prenat Diagn 26:782-4. 2006
    ..A monochorionic-diamniotic placenta (MCDAP) is rare in dizygotic (DZ) twinning. All reported cases have been documented in pregnancies achieved by the induction of ovulation alone or during the IVF cycle...
  6. ncbi request reprint An association of Hutchinson-Gilford progeria and malignancy
    Stavit A Shalev
    The Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 143:1821-6. 2007
    ..These findings are discussed in light of recent data on the pathophysiological mechanisms underlying progeria and "physiological" aging in human, as well as previous data on other well-known segmental aging syndromes...
  7. ncbi request reprint Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene
    Stavit A Shalev
    The Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 140:162-5. 2006
    ..The affected individuals in this family demonstrated clinical variability particularly in their cognitive skills, raising the question whether other genetic factors might be involved in the phenotypic evolution of ASS...
  8. ncbi request reprint A syndrome characterized by intra-uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features
    Stavit A Shalev
    Ha Emek Medical Center, Institute of Genetics, Afula, Israel
    Am J Med Genet A 143:395-8. 2007
  9. ncbi request reprint Behavioral pattern profile: a tool for the description of behavior to be used in the genetics clinic
    Stavit A Shalev
    Genetics Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 128:389-95. 2004
    ..We expect that its use will produce a rich source of behavioral profiles and will eventually contribute to the better understanding of unusual behavior...
  10. ncbi request reprint Another adult with Meier-Gorlin syndrome--insights into the natural history
    Stavit A Shalev
    Department of Medical Genetics, British Columbia Children s Hospital, Vancouver, British Columbia, Canada
    Clin Dysmorphol 12:167-9. 2003
    ..Other characteristics of her phenotype in adulthood include a cheerful personality, a high forehead and accentuated naso-labial folds, relatively very small ears, hypoplastic breasts, and normal menstruation...
  11. ncbi request reprint A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family
    Stavit A Shalev
    Genetics Institute, Ha Emek Medical Center Afula, Rappaport Faculty of Medicine of Technion Haifa, Afula, Israel
    Am J Med Genet A 138:236-40. 2005
    ..The phenotype seems to be distinct from other multiple pterygium syndromes because the lower limbs are spared, and the umbilical hernia with hypoplastic skin has not been described previously...
  12. doi request reprint TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
    Ronen Spiegel
    Paediatric Department A and Genetic Institute Ha Emek Medical Center, Afula, Israel
    J Med Genet 48:177-82. 2011
    ..Almost all share a common Roma descent and are homozygous for a single founder splice site mutation...
  13. doi request reprint A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities
    Ronen Spiegel
    Department of Pediatrics A, Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Am J Med Genet A 149:2655-60. 2009
    ..This phenotype does not fully meet typical diagnostic features of any known condition...
  14. doi request reprint Expanding the clinical spectrum of SLC29A3 gene defects
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Eur J Med Genet 53:309-13. 2010
    ..This report emphasizes the complex genotype phenotype correlation in SLC29A3 disorders and suggests that other factors are relevant to disease manifestations and severity...
  15. doi request reprint Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations
    Ronen Spiegel
    The Genetic Institute, Ha Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Am J Med Genet A 155:2821-5. 2011
    ..Our results suggest that despite the early postnatal fulminant course, patients who survive may expect a relatively favorable prognosis...
  16. ncbi request reprint A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin
    Stavit A Shalev
    The Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Int Arch Allergy Immunol 143:190-3. 2007
    ....
  17. doi request reprint The clinical spectrum of fetal Niemann-Pick type C
    Ronen Spiegel
    Genetic Institute, Haemek Medical Center, Afula, Israel
    Am J Med Genet A 149:446-50. 2009
    ..We suggest that once identified these findings, should raise the suspicion of fetal NPC. Our study further expands the antenatal clinical spectrum of NPC and provides clues to its prenatal diagnosis...
  18. ncbi request reprint Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula 18101, Israel
    J Hum Genet 51:846-50. 2006
    ..This report broadens the known "classic" phenotype of HL-I...
  19. ncbi request reprint Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindred
    Miriam Kutai
    Neuropediatric Clinic, Ha Emek Medical Center, Afula, Israel
    Pediatr Neurol 35:425-9. 2006
    ..Laboratory evaluation including muscle biopsies, genetic studies, and metabolic evaluation was nondiagnostic...
  20. doi request reprint ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency
    Ronen Spiegel
    Pediatric Department A, Ha Emek Medical Center, Afula, Israel
    Eur J Endocrinol 162:1021-5. 2010
    ..The aim of the present study was to characterize the endocrine phenotype of ANE syndrome and to delineate its pathogenesis...
  21. ncbi request reprint [60 years of medical genetics in Israel]
    Stavit A Shalev
    The Genetics Institute, Haemek Medical Center, Afula, Technion Rapport Faculty of Medicine, Haifa, Israel
    Harefuah 149:91-4, 124. 2010
    ..Highlights of genetic diversity of the various ethnic and sub-populations are added, along with the advances and major achievements of the human genetics discipline in the state of Israel...
  22. ncbi request reprint Thrombophilia and stillbirth: possible connection by intrauterine growth restriction
    Zeev Weiner
    Department of Obstetric and Gynecology, Ha Emek Medical Center, Afula, Israel
    BJOG 111:780-3. 2004
    ..To define the association between thrombophilia and unexplained stillbirth...
  23. pmc Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews
    Ronen Spiegel
    Genetic Institute, Ha Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel
    Eur J Hum Genet 17:1200-3. 2009
    ..Our study further emphasizes that NDUFS6 sequence should be analyzed in patients presenting with lethal neonatal lactic acidemia due to isolated complex I deficiency...
  24. doi request reprint A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia
    Gianluca Caridi
    Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genoa, Italy
    Eur J Clin Invest 43:72-8. 2013
    ..The trait is caused by a variety of mutations within the albumin gene...
  25. ncbi request reprint [A comprehensive program for prevention of genetic diseases among Arabs in Israel]
    Stavit A Shalev
    Genetic Institute, Ha Emek Medical Center, Afula
    Harefuah 142:792-4, 804. 2003
    ..In order to provide the necessary tools for such a program, genetic research must first characterize the common genetic diseases in the small communities, and identify their responsible mutations...
  26. ncbi request reprint Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation
    Tamar Harel
    Laboratory of Human Molecular Genetics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    Eur J Hum Genet 12:38-43. 2004
    ....
  27. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...
  28. ncbi request reprint Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Nat Genet 37:1345-50. 2005
    ..Our findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway...
  29. ncbi request reprint Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel
    Am J Med Genet A 140:1644-6. 2006
    ..The presence of a genetic counselor in the village clinic allows for better and closer contacts with the family physician...
  30. ncbi request reprint Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation
    Cristina Gomez-Abad
    Neurology Service, Fundacion Jimenez Diaz, Madrid, Spain
    Epilepsia 48:1011-4. 2007
    ..We observed three apparently unrelated and geographically separate Arab families with Lafora disease in Israel and the Palestinian territories...
  31. ncbi request reprint Origin and expansion of four different beta globin mutations in a single Arab village
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Health Ministry and Hebrew University, Jerusalem, Israel
    Am J Hum Biol 17:659-61. 2005
    ..The sickle-cell mutation became particularly prevalent in the village as the result of a founder effect due to a preference for consanguineous marriages...
  32. ncbi request reprint Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?
    Dorit Lev
    Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Affiliated to Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Eur J Paediatr Neurol 12:97-101. 2008
    ....
  33. pmc Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9
    Ortal Barel
    The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev, Ben Gurion University, Beer Sheva 84105, Israel
    Am J Hum Genet 83:193-9. 2008
    ..1, a member of the two pore-domain potassium channel (K(2P)) subfamily. The mutation fully abolishes the channel's currents--both when functioning as a homodimer or as a heterodimer with K(2P)3.1...
  34. ncbi request reprint High incidence of deafness from three frequent connexin 26 mutations in an isolated community
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel
    Genet Test 10:40-3. 2006
    ..4%), or V37I (4.8%). The three mutations appeared in the village approximately 100-150 years ago. The question of why three distinct mutations of similar age are observed at high frequency within a genetic isolate is discussed...