Research Topics
Species | Stavit A ShalevSummaryCountry: Israel Publications
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Detail Information
Publications
Poland anomaly--report of an unusual familyStavit 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...- Long-term follow-up of three individuals with Kabuki syndromeStavit 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... 
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesZippora 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...
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab familiesStavit A Shalev
Genetic Institute, Emek Medical Center, Afula, Israel
Eur J Med Genet 55:256-64. 2012....- Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for Down syndromeS 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... - An association of Hutchinson-Gilford progeria and malignancyStavit 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... - Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 geneStavit 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... - A syndrome characterized by intra-uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal featuresStavit A Shalev
Ha'Emek Medical Center, Institute of Genetics, Afula, Israel
Am J Med Genet A 143:395-8. 2007 - Behavioral pattern profile: a tool for the description of behavior to be used in the genetics clinicStavit 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... - Another adult with Meier-Gorlin syndrome--insights into the natural historyStavit 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... - A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic familyStavit 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... - TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeRonen 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... - A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalitiesRonen 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... - Expanding the clinical spectrum of SLC29A3 gene defectsRonen 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... - Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutationsRonen 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... - A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian originStavit A Shalev
The Genetic Institute, Ha Emek Medical Center, Afula, Israel
Int Arch Allergy Immunol 143:190-3. 2007.... - The clinical spectrum of fetal Niemann-Pick type CRonen 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... - Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3Ronen 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... - Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindredMiriam 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... - ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiencyRonen 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... - Thrombophilia and stillbirth: possible connection by intrauterine growth restrictionZeev Weiner
Department of Obstetric and Gynecology, Ha'Emek Medical Center, Afula, Israel
BJOG 111:780-3. 2004..4%, P < 0.0001). CONCLUSIONS: There is no association between thrombophilia and stillbirth, overall. However, there is a clear association between thrombophilia and stillbirth of extremely growth restricted infants... - Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus JewsRonen 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... - A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemiaGianluca Caridi
Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genoa, Italy Department of Pediatrics A and Genetic Institute, Ha Emek Medical Center, Afula, Rappaport Faculty of Medicine, Technion, Haifa, Israel Department of Molecular Medicine, University of Pavia, Pavia, Italy
Eur J Clin Invest 43:72-8. 2013.... - [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... - [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... - 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... - Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutationTamar 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.... - Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian 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... - Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutationCristina 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... - Origin and expansion of four different beta globin mutations in a single Arab villageJoel 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... - Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the communityJoel 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... - 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.... - Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9Ortal 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... - High incidence of deafness from three frequent connexin 26 mutations in an isolated communityJoel 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...