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Genetics

 
Gene-Gene and Gene-Environment Interactions in Apolipoprotein L1 Gene-Associated Nephropathy
2014
Karl Skorecki, MD
Authors : Freedman BI, Skorecki K.
Clin J Am Soc Nephrol. 2014 Jun 5. pii: CJN.01330214. [Epub ahead of print]
 
APOL1 Risk Variants Enhance Podocyte Necrosis through Compromising Lysosomal Membrane Permeability
2014
Karl Skorecki, MD
Authors : Lan X, Jhaveri A, Cheng K, Wen H, Saleem MA, Mathieson PW, Mikulak J, Aviram S, Malhotra A, Skorecki KL, Singhal PC.
Am J Physiol Renal Physiol. 2014 Jun 4. pii: ajprenal.00647.2013. [Epub ahead of print]
 
Childhood history of resolved glomerular disease and risk of hypertension during adulthood
2014
Karl Skorecki, MD
Authors : Vivante A, Twig G, Tirosh A, Skorecki K, Calderon-Margalit R.
JAMA. 2014 Mar 19;311(11):1155-7
 
Niche-dependent gene expression profile of intratumoral heterogeneous ovarian cancer stem cell populations
2013
Karl Skorecki, MD
Authors : Abelson S, Shamai Y, Berger L, Skorecki K, Tzukerman M.
PLoS One. 2013 Dec 17;8(12):e83651.
 
Phylogenetic applications of whole Y-chromosome sequences and the Near Eastern origin of Ashkenazi Levites
2013
Karl Skorecki, MD
Authors : Rootsi S, Behar DM, Jהrve M, Lin AA, Myres NM, Passarelli B, Poznik GD, Tzur S, Sahakyan H, Pathak AK, Rosset S, Metspalu M, Grugni V, Semino O, Metspalu E, Bustamante CD, Skorecki K, Villems R, Kivisild T, Underhill PA.
Nat Commun. 2013 Dec 17;4:2928.
 
Adult Cardiac Expression of the Activating Transcription Factor 3, ATF3, Promotes Ventricular Hypertrophy
2013
Ami Aronheim, PhD
Authors : Koren L, Elhanani O, Kehat I, Hai T, Aronheim A.
PLoS One. 2013 Jul 3;8(7):e68396.
 
Gene expression is circular: factors for mRNA degradation also foster mRNA synthesis
2013
Mordechai (Motti) Choder, PhD
Authors : Haimovich G, Medina DA, Causse SZ, Garber M, Millan-Zambrano G, Barkai O, Chavez S, Perez-Ortin JE, Darzacq X, Choder M.
Cell. 2013 May 23;153(5):1000-11.
 
Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa
2013
Tamar Ben-Yosef, PhD
Authors : Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T.
Mol Vis. 2013 Jul 20;19:1565-71.
 
Linkage disequilibrium analysis reveals an albuminuria risk haplotype containing three missense mutations in the cubilin gene with striking differences among European and African ancestry populations
2013
Mordechai (Motti) Choder, PhD
Authors : Tzur S, Wasser WG, Rosset S, Skorecki K.
BMC Nephrol. 2012 Oct 31;13:142.
 
Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.
2013
Tamar Ben-Yosef, PhD
Authors : Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T.
Mol Vis. 2013 Jul 20;19:1565-71.
 
North Africans traveling north.
2013
Karl Skorecki, MD
Authors : Skorecki K, Behar DM.
Proc Natl Acad Sci U S A. 2013 Jul 16;110(29):11668-9.
 
Identification and analysis of a novel dimerization domain shared by various members of JNK scaffold proteins.
2013
Ami Aronheim, PhD
Authors : Cohen-Katsenelson K*, Wasserman T*, Darlyuk-Saadon I*, Rabner A, Glaser F, Aronheim A.
J. Biol. Chem. 288, 7294-304.
 
Heparanase Is Essential for the Development of Diabetic Nephropathy in Mice.
2012
Israel Vlodavsky, PhD
Authors : Gil N, Goldberg R, Neuman T, Garsen M, Zcharia E, Rubinstein AM, van Kuppevelt, T, Meirovitz A, Pisano C, Li JP, van der Vlag J, Vlodavsky I, Elkin M.
Diabetes. 61(1):208-16
 
Cell lineage analysis of acute leukemia relapse uncovers the role of replication-rate heterogeneity and miscrosatellite instability
2012
Karl Skorecki, MD
Authors : Shlush LI, Chapal-Ilani N, Adar R, Pery N, Maruvka Y, Spiro A, Shouval R, Rowe JM, Tzukerman M, Bercovich D, Izraeli S, Marcucci G, Bloomfield CD, Zuckerman T, Skorecki K, Shapiro E.
Blood.
 
Fertility preservation
2012
Zeev Blumenfeld, MD
Authors : Blumenfeld Z.
Clin Endocrinol (Oxf). 2012 Jun;76(6):919-20.
 
Gonadotropin-Releasing Hormone Agonist for Preservation of Ovarian Function During (Neo)Adjuvant Chemotherapy for Breast Cancer
2012
Zeev Blumenfeld, MD
Authors : Blumenfeld Z.
J Clin Oncol. 2012 May 29. [Epub ahead of print]
 
Hypothalamic obesity in children
2012
Ze'ev Hochberg, MD, PhD
Authors : Bereket A, Kiess W, Lustig RH, Muller HL, Goldstone AP, Weiss R, Yavuz Y, Hochberg Z.
Obes Rev. 2012 May 11. [Epub ahead of print]
 
Epigenetics and vitrification of embryos: one step forward and many raised equivocal questions
2012
Zeev Blumenfeld, MD
Authors : Blumenfeld Z.
Fertil Steril. 2012 May 5. [Epub ahead of print]
 
Relation between changes in red cell distribution width and clinical outcomes in acute decompensated heart failure
2012
Zaher S. Azzam, MD
Authors : Makhoul BF, Khourieh A, Kaplan M, Bahouth F, Aronson D, Azzam ZS.
Int J Cardiol. 2012 May 2. [Epub ahead of print]
 
Hyperthyrotropinaemia in untreated subjects with down's syndrome aged 6 months to 64 years: a comparative analysis
2012
Ze'ev Hochberg, MD, PhD
Authors : Meyerovitch J, Antebi F, Greenberg-Dotan S, Bar-Tal O, Hochberg Z.
Arch Dis Child. 2012 Apr 25. [Epub ahead of print]
 
Transient abnormal fetal cardiac flow patterns at 13 to 17 gestational weeks
2012
Zeev Blumenfeld, MD
Authors : Bronshtein M, Zimmer EZ, Blazer S, Blumenfeld Z.
Prenat Diagn. 2012 Apr 12. [Epub ahead of print]
 
Unnecessary life threatening complications after IVF in mixed connective tissue disease
2012
Zeev Blumenfeld, MD
Authors : Blumenfeld Z.
J Assist Reprod Genet. 2012 Apr 11. [Epub ahead of print]
 
Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris.
2012
Karl Skorecki, MD
Authors : Sarig O, Bercovici S, Zoller L, Goldberg I, Indelman M, Nahum S, Israeli S, Sagiv N, Martinez de Morentin H, Katz O, Baum S, Barzilai A, Trau H, Murrell DF, Bergman R, Hertl M, Rosenberg S, Nathen MM, Skorecki K, Schmidt E, Zillikens D, Darvasi A, Geiger D, Rosset S, Ibrahim SM, Sprecher E.
J Invest Dermatol. 2012 132(7):1798-805.
 
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.
2012
Zvi U. Borochowitz, MD
Authors : Shalev SA, Spiegel R, Borochowitz ZU.
Eur J Med Genet. 2012 Mar 3. [Epub ahead of print]
 
Ceramide Kinase-Like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.
2012
Tamar Ben-Yosef, PhD
Authors : Nevet MJ, Vekslin S, Dizhoor AM, Olshevskaya EV, Tidhar R, Futerman AH, Ben-Yosef T.
Invest. Ophthalmol. Vis. Sci. 53, 4565-74.
 
Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) are Allelic Variants Caused by GLUT2 Mutations.
2012
Daniella Magen, MD
Authors : Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Juppner H.
J Clin Endocrin Metab. 10, 2012-1279.
 
Intratumoral heterogeneity in the self-renewal and tumorigenic differentiation of ovarian cancer.
2012
Karl Skorecki, MD
Authors : Abelson S, Shamay Y, Berger L, Skorecki K, Tzukerman M.
Stem Cells 30, 415-424.
 
In vitro mitochondrial effects of PK 11195, a synthetic translocator protein 18 kDa (TSPO) ligand, in human osteoblast-like cells.
2011
Michael Soudry, MD
Authors : Rosenberg N, Rosenberg O, Weizman A, Leschiner S, Sakoury Y, Fares F, Soudry, M, Weisinger G, Veenman L, Gavish M.
J Bioenerg Biomembr. 2011 Dec;43(6):739-46.
 
Right ductus arteriosus: facts and theory.
2011
Zeev Blumenfeld, MD
Authors : Bronshtein M, Zimmer EZ, Blazer S, Blumenfeld Z.
Eur J Obstet Gynecol Reprod Biol. 2011 Dec;159(2):282-8.
 
Preservation of ovarian function and minimizing premature ovarian failure during chemotherapy using gonadotropin-releasing hormone analogs.
2011
Zeev Blumenfeld, MD
Authors : Blumenfeld Z.
Womens Health (Lond Engl). 2011 Nov;7(6):635-40.
 
Expanding the definition of hypothalamic obesity.
2011
Ze'ev Hochberg, MD, PhD
Authors : Hochberg I, Hochberg Z.
Obes Rev. 2010 Oct;11(10):709-21.
 
Gonadotropin Releasing Hormone Agonists May Minimize Cyclophosphamide Associated Gonadotoxicity in SLE and Autoimmune Diseases.
2011
Zeev Blumenfeld, MD
Authors : Blumenfeld Z, Mischari O, Schultz N, Boulman N, Balbir-Gurman A.
23. [Epub ahead of print]
 
Persistent asymptomatic isolated microscopic hematuria in Israeli adolescents and young adults and risk for end-stage renal disease.
2011
Karl Skorecki, MD
Authors : Vivante A, Afek A, Frenkel-Nir Y, Tzur D, Farfel A, Golan E, Chaiter Y, Shohat
JAMA. 2011 Aug 17;306(7):729-36
 
Elevated red cell distribution width predicts poor outcome in young patients with community acquired pneumonia
2011
Zaher S. Azzam, MD
Authors : Braun E, Domany E, Kenig Y, Mazor Y, Makhoul BF, Azzam ZS.
Crit Care. 2011 Aug 11;15(4):R194.
 
11β-Hydroxysteroid dehydrogenase type 1 activity in short small-for-GA children and in response to GH therapy.
2011
Ze'ev Hochberg, MD, PhD
Authors : Zuckerman-Levin N, Tsivlin L, Knopf C, Flor O, Shen-Orr Z, Levin M, Hochberg Z.
Pediatr Res. 2011 Aug;70(2):208-12.
 
Evolutionary fitness as a function of pubertal age in 22 subsistence-based traditional societies.
2011
Ze'ev Hochberg, MD, PhD
Authors : Hochberg Z, Gawlik A, Walker RS.
Int J Pediatr Endocrinol. 2011;2011(1):2.
 
Impact of infancy duration on adult size in
2011
Ze'ev Hochberg, MD, PhD
Authors : Gawlik A, Walker RS, Hochberg Z.
Acta Paediatr. 2011 Jul 4. [Epub ahead of print]
 
Characterization of Pulmonary Venous Hypertension Patients with Reactive
2011
Zaher S. Azzam, MD
Authors : Berger G, Hardak E, Obaid W, Shaham B, Carasso S, Kerner A, Yigla M, Azzam ZS.
Jul;301(1):L23-30.
 
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
2011
Tamar Ben-Yosef, PhD
Authors : Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T.
Mol Vis. 2011;17:3548-55
 
Z. 11√-Hydroxysteroid Dehydrogenase Type 1 Activity in Short Small-For-Gestational-Age Children and in Response to Growth Hormone Therapy.
2011
Ze'ev Hochberg, MD, PhD
Authors : Zuckerman-Levin N, Tsivlin L, Knopf C, Flor O, Shen-Orr Z, Levin M, Hochberg Z.
Pediatr Res. 2011 May 3. [Epub ahead of print]
 
Low infection rates and prolonged survival times of hemodialysis catheters in infants and children.
2011
Israel Zelikovic, MD
Authors : Eisenstein I, Tarabeih M, Magen D, Pollack S, Kassis I, Ofer A, Engel A,
Clin J Am Soc Nephrol. 2011 Apr;6(4):793-8.
 
Quantitative digital in situ senescence-associated β-galactosidase assay.
2011
Karl Skorecki, MD
Authors : Shlush LI, Itzkovitz S, Cohen A, Rutenberg A, Berkovitz R, Yehezkel S, Shahar, H, Selig S, Skorecki K.
BMC Cell Biol. 2011 Apr 15;12:16.
 
Telomere elongation followed by telomere length reduction, in leukocytes from divers exposed to intense oxidative stress--implications for tissue and organismal aging.
2011
Karl Skorecki, MD
Authors : Shlush LI, Skorecki KL, Itzkovitz S, Yehezkel S, Segev Y, Shachar H, Berkovitz R, Adir Y, Vulto I, Lansdorp PM, Selig S.
Mech Ageing Dev. 2011 132(3):123-30.
 
A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
2011
Tamar Ben-Yosef, PhD
Authors : Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D.
Am J Hum Genet. 2011 Feb 11;88(2):207-15.
 
Long-term response to growth hormone (GH) therapy in short children with a delayed infancy childhood transition (DICT).
2011
Ze'ev Hochberg, MD, PhD
Authors : Albertsson-Wikland K, Kristrצm B, Jonsson B, Hochberg Z.
Pediatr Res. 2011 Feb 3. [Epub ahead of print]
 
Idiopathic pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension: can we be certain?
2011
Zaher S. Azzam, MD
Authors : Berger G, Azzam ZS, Hardak E, Tavor Y, Yigla M.
Isr Med Assoc J. 2011 Feb;13(2):106-10. Review
 
Absence of APOL1 Risk Variants Protects against HIV-Associated Nephropathy in the Ethiopian Population.
2011
Karl Skorecki, MD
Authors : Behar DM, Kedem E, Rosset S, Haileselassie Y, Tzur S, Kra-Oz Z, Wasser WG, Shenhar Y, Shahar E, Hassoun G, Maor C, Wolday D, Pollack S, Skorecki K.
Am J Nephrol. 2011;34(5):452-9.
 
Docking interactions of the JNK scaffold protein WDR62.
2011
Ami Aronheim, PhD
Authors : Cohen-Katsenelson K*, Wasserman T*, Khateb S, Whitmarsh AJ, Aronheim A.
Biochemical J. 439, 381-390
 
Hereditary Tubular Disorders of Mineral Handling.
2011
Daniella Magen, MD
Authors : Magen D and Zelikovic I.
Elsevier, San Diego, California, 727-770.
 
Pendrin function and regulation in Xenopus oocytes.
2011
Israel Zelikovic, MD
Authors : Reimold FR, Heneghan JF, Stewart AK, Zelikovic I, Vandorpe DH, Shmukler BE,Alper SL.
Cell Physiol Biochem. 2011;28(3):435-50. Epub 2011 Nov 16.
 
Population Genetics in Chronic Kidney Disease: Insights from the MYH9 - APOL1 Example.
2011
Karl Skorecki, MD
Authors : Rosset S, Tzur S, Behar DM, Wasser W, Skorecki KL.
Nat Rev Nephrol. 7, 313-326.
 
Promoter elements regulate cytoplasmic mRNA decay.
2011
Mordechai (Motti) Choder, PhD
Authors : Bregman A, Avraham-Kelbert M, Barkai O, Duek L, Guterman A, Choder M.
Cell, 147, 1473-83.
 
Transcriptional regulation of the pendrin gene.
2011
Israel Zelikovic, MD
Authors : Rozenfeld J, Efrati E, Adler L, Tal O, Carrithers SL, Alper SL, Zelikovic I.
Cell Physiol Biochem. 2011;28(3):385-96. Epub 2011 Nov 16.
 
Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina
2010
Tamar Ben-Yosef, PhD
Authors : Vekslin S, Ben-Yosef T.
Mol Vis. 2010 Dec 3;16:2539-49.
 
Admixture mapping of end stage kidney disease genetic susceptibility using estimated mutual information ancestry informative markers.
2010
Karl Skorecki, MD
Authors : Shlush LI, Bercovici S, Wasser WG, Yudkovsky G, Templeton A, Geiger D, Skorecki K.
BMC Med Genomics. 2010 Oct 18;3:47.
 
Hormone resistance at the clinical level.
2010
Ze'ev Hochberg, MD, PhD
Authors : Hochberg Z.
Sci Signal. 2010 Oct 12;3(143):pt1.
 
Evolutionary perspective in skin color, vitamin D and its receptor.
2010
Ze'ev Hochberg, MD, PhD
Authors : Hochberg Z, Templeton AR
Hormones (Athens). 2010 Oct;9(4):307-11.
 
Child Health, Developmental Plasticity, and Epigenetic Programming.
2010
Ze'ev Hochberg, MD, PhD
Authors : Hochberg Z, Feil R, Constancia M, Fraga M, Junien C, Carel JC, Boileau P, Le Bouc Y, Deal CL, Lillycrop K, Scharfmann R, Sheppard A, Skinner M, Szyf M, Waterland RA, Waxman DJ, Whitelaw E, Ong K, Albertsson-Wikland K.
Endocr Rev. 2010 Oct 22. [Epub ahead of print]
 
Homozygosity mapping reveals null mutations in AM161A as a cause of autosomal-recessive retinitis pigmentosa.
2010
Tamar Ben-Yosef, PhD
Authors : Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D.
Am J Hum Genet. 2010 Sep 10;87(3):382-91.
 
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.
2010
Karl Skorecki, MD
Authors : Tzur S, Rosset S, Shemer R, Yudkovsky G, Selig S, Tarekegn A, Bekele E, Bradman N, Wasser WG, Behar DM, Skorecki K.
Hum Genet. 2010 Sep;128(3):345-50.
 
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
2010
Tamar Ben-Yosef, PhD
Authors : Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94.
 
Reprogramming of telomeric regions during the generation of human induced pluripotent stem cells and subsequent differentiation into fibroblast-like derivatives.
2010
Karl Skorecki, MD
Authors : Yehezkel S, Rebibo-Sabbah A, Segev Y, Tzukerman M, Shaked R, Huber I, Gepstein L, Skorecki K, Selig S.
Epigenetics. 2011 Jan 21;6(1).
 
Transcriptional regulation of the claudin-16 gene by Mg2+ availability.
2010
Israel Zelikovic, MD
Authors : Efrati E, Hirsch A, Kladnitsky O, Rozenfeld J, Kaplan M, Zinder O, Zelikovic I.
Cell Physiol Biochem. 2010;25(6):705-14.
 
Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans
2010
Tamar Ben-Yosef, PhD
Authors : Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T.
J Med Genet. 2010 Aug;47(8):533-7.
 
Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase
2010
Tamar Ben-Yosef, PhD
Authors : Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T.
Am J Hum Genet. 2010 Jul 21
 
Evo-Devo of child growth III: premature juvenility as an evolutionary trade-off
2010
Ze'ev Hochberg, MD, PhD
Authors : Hochberg Z.
Horm Res Paediatr. 2010;73(6):430-7. Epub 2010 Apr 15.
 
Functions of claudin tight junction proteins and their complex interactions in various physiological systems.
2010
Tamar Ben-Yosef, PhD
Authors : Elkouby-Naor L, Ben-Yosef T.
Int Rev Cell Mol Biol. 2010;279:1-32.
 
A loss of function mutation in NaPi-IIa and renal Fanconi's syndrome.
2010
Daniella Magen, MD
Authors : Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K.
N Engl J Med 362, 1102-1109.
 
A novel JNK binding protein WDR62 is recruited to stress granules and mediates a non-classical JNK activation. Mol.
2010
Ami Aronheim, PhD
Authors : Wasserman T*, Katsenelson K*, Daniliuc S*, Hasin T, Choder M, Aronheim A.
Cell 21, 117-130
 
Autosomal recessive severe early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
2010
Tamar Ben-Yosef, PhD
Authors : Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T.
Am J Hum Genet 87, 258-64.
 
RNA polymerase II subunits link transcription and mRNA decay to translation.
2010
Mordechai (Motti) Choder, PhD
Authors : Harel-Sharvit L, Eldad N, Haimovich G, Barkai O, Duek L, Choder M.
Cell 143, 552-563.
 
The identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the etiology of retinitis pigmentosa in humans.
2010
Tamar Ben-Yosef, PhD
Authors : Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T.
J Med Genet 47, 533-537.
 
Hypothalamic Obesity
2009
Ze'ev Hochberg, MD, PhD
Authors : Hochberg I, Hochberg Z.
Endocr Dev. 2010;17:185-196. Epub 2009 Nov 24. Review.
 
Androgen Replacement Therapy in Turner Syndrome: A Pilot Study
2009
Ze'ev Hochberg, MD, PhD
Authors : Zuckerman-Levin N, Frolova-Bishara T, Militianu D, Levin M, Aharon-Peretz J, Hochberg Z‭.
J Clin Endocrinol Metab. 2009 Oct 21. [Epub ahead of print]
 
In vitro fertilisation and use of ovulation enhancers may both influence childhood height in very low birthweight infants
2009
Ze'ev Hochberg, MD, PhD
Authors : Makhoul IR, Tamir A, Bader D, Rotschild A, Weintraub Z, Yurman S, Reich D, Bental Y, Jammalieh J, Smolkin T, Sujov P, Hochberg Z.
Arch Dis Child Fetal Neonatal Ed. 2009 Sep;94(5):F355-9
 
Ovarian Function Preservation by GnRH Agonists during Chemotherapy
2009
Zeev Blumenfeld, MD
Authors : Blumenfeld Z.
J Womens Health (Larchmt). 2009 Aug 26
 
Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene
2009
Zvi U. Borochowitz, MD
Authors : Shalata A, Furman H, Adir V, Adir N, Hujeirat Y, Shalev SA, Borochowitz ZU.
Muscle Nerve. 2009 Aug 20
 
Hypophosphatemia: the common denominator of all rickets
2009
Ze'ev Hochberg, MD, PhD
Authors : Tiosano D, Hochberg Z.
J Bone Miner Metab. 2009;27(4):392-401.
 
Adherence to guidelines improves the clinical outcome of patients with acutely decompensated heart failure
2009
Zaher S. Azzam, MD
Authors : Braun E, Landsman K, Zuckerman R, Berger G, Meilik A, Azzam ZS.
Isr Med Assoc J. 2009 Jun;11(6):348-53.
 
Parental and perinatal factors affecting childhood anthropometry of very-low-birth-weight premature infants: a population-based survey
2009
Ze'ev Hochberg, MD, PhD
Authors : Makhoul IR, Awad E, Tamir A, Weintraub Z, Rotschild A, Bader D, Yurman S, Reich D, Bental Y, Jammalieh J, Smolkin T, Sujov P, Hochberg Z.
Acta Paediatr. 2009 Jun;98(6):963-9.
 
The beneficial role of gonadotropin releasing hormone agonists on fertility preservation
2009
Zeev Blumenfeld, MD
Authors : Blumenfeld Z.
Pediatr Blood Cancer. 2009 May 29.
 
Gonadotropin-releasing hormone analogues in fertility preservation-"Evidence-based medicine or just a theory?"
2009
Zeev Blumenfeld, MD
Authors : Blumenfeld Z.
Fertil Steril. 2009 May 22.
 
Catastrophic antiphospholipid syndrome presented with abdominal, pulmonary, and bone marrow complications
2009
Zaher S. Azzam, MD
Authors : Makhoul BF, Guralnik L, Azzam ZS.
Rheumatol Int. 2009 May 18.
 
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability
2009
Tzipora C. Falik-Zaccai, MD
Authors : Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H.
Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 23. [Epub ahead of print]
 
Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations
2009
Tamar Ben-Yosef, PhD
Authors : Nudelman I, Rebibo-Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, Chen F, Schacht J, Pilch DS, Ben-Yosef T, Baasov T.
J Med Chem. 2009. 52(9):2836-45.
 
Telephone follow-up improves patients satisfaction following hospital discharge
2009
Zaher S. Azzam, MD
Authors : Braun E, Baidusi A, Alroy G, Azzam ZS.
Eur J Intern Med. 2009 Mar;20(2):221-5. Epub 2008 Aug 28
 
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration‭: ‬the pitfalls of homozygosity mapping
2009
Tamar Ben-Yosef, PhD
Authors : Benayoun L‭, ‬Spiegel R‭, ‬Auslender N‭, ‬Abbasi AH‭, ‬Rizel L‭, ‬Hujeirat Y‭, ‬Salama I‭,‬
Am J Med Genet A‭. ‬2009‭ ‬Feb 15‭;‬149A(4‭):‬650-6
 
Mutations in DDR2 Gene cause SMED with short limbs and abnormal calcifications
2009
Zvi U. Borochowitz, MD
Authors : Bargal, R., Cormier-Daire, V., Ben-Neriah, Z., Le Merrer, M., Sosna, J., Melki, J., Zangen, D. H., Smithson, S. F., Borochowitz, Z., Belostotsky, R., Raas-Rothschild, A.
Am J Hum Genet 84, 80-84.
 
Niche-dependent tumorigenic capacity of malignant ovarian ascites-derived cancer cell subpopulations
2009
Karl Skorecki, MD
Authors : Katz E, Skorecki K, Tzukerman M.
Clin Cancer Res. 2009 Jan 1;15(1):70-80.
 
Distribution of TPMT risk alleles for thioupurine toxicity in the Israeli population
2008
Eli Sprecher, MD, PhD
Authors : Efrati E, Adler L, Krivoy N, Sprecher E.
Eur J Clin Pharmacol. 2008 Dec 2. [Epub ahead of print]
 
Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy
2008
Ze'ev Hochberg, MD, PhD
Authors : German, A., Suraiya, S., Tenenbaum-Rakover, Y., Koren, I., Pillar, G., Hochberg, Z.
J Clin Endocrinol Metab 93, 4707-4710.
 
Population screening in a Druze community: the challenge and the reward
2008
Tzipora C. Falik-Zaccai, MD
Authors : Falik-Zaccai, T. C., Kfir, N., Frenkel, P., Cohen, C., Tanus, M., Mandel, H., Shihab, S., Morkos, S., Aaref, S., Summar, M. L., Khayat, M.
Genet Med 10, 903-909.
 
Novel mutations in DSG1 causing striate palmoplantar keratoderma
2008
Eli Sprecher, MD, PhD
Authors : Hershkovitz D, Lugassy J, Indelman M, Bergman R, Sprecher E.
Clin Exp Dermatol. 2008 Nov 6. [Epub ahead of print]
 
GnRH-analogues and oral contraceptives for fertility preservation in women during chemotherapy
2008
Zeev Blumenfeld, MD
Authors : Blumenfeld, Z., von Wolff, M.
Hum Reprod Update 14, 543-552.
 
Patterns of alveolar fluid clearance in heart failure
2008
Zaher S. Azzam, MD
Authors : Hochberg I, Abassi Z, Azzam ZS.
Int J Cardiol. 2008 Nov 12;130(2):125-30. Epub 2008 Jun 24
 
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis
2008
Eli Sprecher, MD, PhD
Authors : Chefetz I, Sprecher E.
Biochim Biophys Acta. 2008 Oct 25. [Epub ahead of print]
 
Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J
2008
Karl Skorecki, MD
Authors : Shlush LI, Atzmon G, Weisshof R, Behar D, Yudkovsky G, Barzilai N, Skorecki K.
PLoS ONE. 2008;3(10):e3425.
 
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity
2008
Eli Sprecher, MD, PhD
Authors : Chefetz I, Kohno K, Izumi H, Uitto J, Richard G, Sprecher E.
Biochim Biophys Acta. 2008 Oct 11. [Epub ahead of print]
 
Monogenic pigmentary skin disorders: genetics and pathophysiology
2008
Eli Sprecher, MD, PhD
Authors : Hershkovitz D, Sprecher E.
Isr Med Assoc J. 2008 Oct;10(10):713-7
 
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
2008
Eli Sprecher, MD, PhD
Authors : Nahum S, Pasternack SM, Pforr J, Indelman M, Wollnik B, Bergman R, Nothen MM, Konig A, Khamaysi Z, Betz RC, Sprecher E.
Arch Dermatol Res. 2008 Sep 27. [Epub ahead of print]
 
Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
2008
Karl Skorecki, MD
Authors : Yehezkel S, Segev Y, Viegas-Pequignot E, Skorecki K, Selig S.
Hum Mol Genet. 2008 Sep 15;17(18):2776-89.
 
Dilated cardiomyopathy: an unusual complication of clozapine therapy
2008
Zaher S. Azzam, MD
Authors : Makhoul B, Hochberg I, Rispler S, Azzam ZS.
Nat Clin Pract Cardiovasc Med. 2008 Sep;5(9):566-70. Epub 2008 Jul 15
 
Double gene deletion reveals lack of cooperation between claudin 11 and claudin 14 tight junction proteins
2008
Tamar Ben-Yosef, PhD
Authors : Elkouby-Naor L, Abassi Z, Lagziel A, Gow A, Ben-Yosef T.
Cell Tissue Res. 2008 Sep;333(3):427-38. Epub 2008 Jul 29
 
Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis
2008
Eli Sprecher, MD, PhD
Authors : Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, Adir N, Lipkin E, Bercovici S, Geiger D, van Steensel MA, Steijlen PM, Bergman R, Bindereif A, Choder M, Shalev S, Sprecher E.
Am J Hum Genet. 2008 May;82(5):1114-21. Epub 2008 Apr 24. PMID: 18439547
A novel mutation in RASA1 causes capillary malformation and limb enlargement
2008
Eli Sprecher, MD, PhD
Authors : Hershkovitz D, Bergman R, Sprecher E.
Arch Dermatol Res. 2008 Aug;300(7):385-8
PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism
2008
Tzipora C. Falik-Zaccai, MD
Authors : Khayat, M., Korman, S. H., Frankel, P., Weintraub, Z., Hershckowitz, S., Fleisher Sheffer, V., Ben Elisha, M., Wevers, R. A., Falik-Zaccai, T. C.
Mol Genet Metab 94, 431-434.
 
Clinical quiz: Mysterious hyperkalemia and cardiac arrest in a newborn infant undergoing continuous veno-venous hemofiltration dialysis: acute hyperkalemia
2008
Israel Zelikovic, MD
Authors : Bar-Joseph G, Tarabia M, Halberthal M, Khatib I, Eisenstein I, Zelikovic I.
Pediatr Nephrol. 2008 Jul;23(7):1053-7. Epub 2008 Apr 23. No abstract available
 
Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
2008
Daniella Magen, MD  |   Karl Skorecki, MD
Authors : Magen, D., Georgopoulos, C., Bross, P., Ang, D., Segev, Y., Goldsher, D., Nemirovski, A., Shahar, E., Ravid, S., Luder, A., Gershoni-Baruch, R., Skorecki, K., Mandel, H.
Am J Hum Genet 83, 30-42.
 
Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6
2008
Tzipora C. Falik-Zaccai, MD
Authors : Falik-Zaccai, T. C., Lasker, M., Kfir, N., Nasser, W., Slor, H., Khayat, M.
Am J Med Genet A 146A, 1423-1429.
 
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-Induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
2008
Eli Sprecher, MD, PhD
Authors : Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E.
J Invest Dermatol. 2008 Jun;128(6):1517-24. Epub 2007 Nov 29.
 
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
2008
Karl Skorecki, MD
Authors : Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E.
J Invest Dermatol. 2008 Jun;128(6):1423-9.
 
The Druze: a population genetic refugium of the Near East.
2008
Karl Skorecki, MD
Authors : Shlush LI, Behar DM, Yudkovsky G, Templeton A, Hadid Y, Basis F, Skorecki K.
PLoS ONE. 2008 May 7;3(5):e2105.
 
Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene
2008
Israel Zelikovic, MD
Authors : Adler L, Efrati E, Zelikovic I.
Am J Physiol Cell Physiol. 2008 May;294(5):C1261-76. Epub 2008 Mar 5. PMID: 18322141
Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora.
2008
Karl Skorecki, MD
Authors : Behar DM, Metspalu E, Kivisild T, Rosset S, Tzur S, Hadid Y,Yudkovsky G, Rosengarten D, Pereira L, Amorim A, Kutuev I, Gurwitz D, Bonne-Tamir B, Villems R, Skorecki K.
PLoS ONE. 2008 Apr 30;3(4):e2062.
 
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
2008
Tamar Ben-Yosef, PhD
Authors : Abbasi AH, Garzozi HJ
Mol Vis. 2008 Apr 21;14:675-82.
 
A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
2008
Eli Sprecher, MD, PhD
Authors : Bergman R, Khamaysi Z, Sprecher E.
Am J Dermatopathol. 2008 Apr;30(2):101-5.
 
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B
2008
Eli Sprecher, MD, PhD
Authors : Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R,
Arch Dermatol. 2008 Mar;144(3):334-40.
 
Disentangling the roots of inherited hair disorders.
2008
Eli Sprecher, MD, PhD
Authors : Sprecher E.
Nat Genet. 2008 Mar;40(3):265-6.
 
Metabolic evidence for impaired 17α-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity
2008
Ze'ev Hochberg, MD, PhD
Authors : Tiosano, D., Knopf, C., Koren, I., Levanon, N., Hartmann, M. F., Hochberg, Z., Wudy, S. A.
Eur J Endocrinol 158, 385-392.
 
Rapid detection of homozygous mutations in congenital recessive ichthyosis.
2008
Eli Sprecher, MD, PhD
Authors : Lugassy J, Hennies HC, Indelman M, Khamaysi Z, Bergman R.
Arch Dermatol Res. 2008 Feb;300(2):81-5.
 
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
2008
Zvi U. Borochowitz, MD  |   Eli Sprecher, MD, PhD
Authors : Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E.
Am J Hum Genet. 2008 Jan;82(1):39-47.
 
Transcription in the nucleus and mRNA decay in the cytoplasm are coupled processes.
2008
Mordechai (Motti) Choder, PhD
Authors : Goler-Baron V, Seletrinnik M, Barkai O, Haimovitz G, Lotan R, Choder M.
Genes & Dev. 22, 2022-2027.
 
Clinical and experimental pain perception is attenuated in patients with painless myocardial infarction.
2007
Zaher S. Azzam, MD
Authors : Granot M, Khoury R, Berger G, Krivoy N, Braun E, Aronson D
Pain. 2007 Dec 15;133(1-3):120-7. Epub 2007
 
A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
2007
Tamar Ben-Yosef, PhD
Authors : Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E
Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5431-8.
 
Familial palmoplantar keratoderma: not always hereditary.
2007
Eli Sprecher, MD, PhD
Authors : Khamaysi Z, Indelman M, Bergman R
J Eur Acad Dermatol Venereol. 2007 Nov;21(10):1437-8.
 
In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.
2007
Tamar Ben-Yosef, PhD
Authors : Rebibo-Sabbah A, Nudelman I, Ahmed ZM, Baasov T
Hum Genet. 2007 Nov;122(3-4):373-81.
 
Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.
2007
Eli Sprecher, MD, PhD
Authors : Bergman R, Harel A.
J Am Acad Dermatol. 2007 Sep;57(3):463-6.
 
How to preserve fertility in young women exposed to chemotherapy? The role of GnRH agonist cotreatment in addition to cryopreservation of embrya, oocytes, or ovaries
2007
Zeev Blumenfeld, MD
Authors : Blumenfeld, Z.
Oncologist 12, 1044-1054.
 
The neuroprotective effect of Activin A and B: implication for neurodegenerative diseases
2007
Moussa B.H. Youdim, PhD  |   Zeev Blumenfeld, MD
Authors : Kupershmidt, L., Amit, T., Bar-Am, O., Youdim, M. B. H., Blumenfeld, Z.
J Neurochem 103, 962-971.
 
Identification of mutations in the human hairless gene in two new families with congenital atrichia.
2007
Eli Sprecher, MD, PhD
Authors : Betz RC, Indelman M, Pforr J, Schreiner F, Bauer R, Bergman R, Lentze MJ, Nothen MM, Cichon S.
Arch Dermatol Res. 2007 Jun;299(3):157-61
 
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease.
2007
Eli Sprecher, MD, PhD
Authors : Sprecher E.
Curr Rheumatol Rep. 2007 Jun;9(3):237-42.
 
Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient
2007
Tamar Ben-Yosef, PhD
Authors : Benayoun L, Granot E, Rizel L, Allon-Shalev S, Behar DM
Mol Genet Metab. 2007 Apr;90(4):453-457.
Clinical significance of the parental origin of the X chromosome in Turner syndrome
2007
Ze'ev Hochberg, MD, PhD
Authors : Sagi, L., Zuckerman-Levin, N., Gawlik, A., Ghizzoni, L., Buyukgebiz, A., Rakover, Y., Bistritzer, T., Admoni, O., Vottero, A., Baruch, O., Fares, F., Malecka-Tendera, E., Hochberg, Z.
J Clin Endocrinol Metab 92, 846-852.
 
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease.
2007
Eli Sprecher, MD, PhD
Authors : Indelman M, Khamaysi Z, Lugassy J, Petronius D, Bergman R.
Br J Dermatol. 2007 Mar;156(3):572-4.
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.
2007
Eli Sprecher, MD, PhD
Authors : Indelman M, Eason J, Hummel M, Loza O, Suri M, Leys MJ, Bayne M, Schwartz FL
Clin Exp Dermatol. 2007 Mar;32(2):191-6.
Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.
2007
Eli Sprecher, MD, PhD
Authors : Hershkovitz D, Amitai DB
Br J Dermatol. 2007 Feb;156(2):375-7.
Alveolar fluid reabsorption is increased in rats with compensated heart failure.
2006
Zaher S. Azzam, MD
Authors : Azzam ZS, Adir Y,Welch L, Chen J, Winaver J, Factor P, Krivoy N, Hoffman A, Sznajder JI,Abassi Z.
Am J Physiol Lung Cell Mol Physiol. 2006 Nov;291(5):L1094-100
 
The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males.
2006
Karl Skorecki, MD
Authors : Rosenberg S, Templeton AR, Feigin PD, Lancet D, Beckmann JS, Selig S, Hamer DH
Hum Genet. 2006 Nov;120(4):447-59.
 
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
2006
Eli Sprecher, MD, PhD
Authors : Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E.
Am J Hum Genet. 2006 Oct;79(4):759-64.
 
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
2006
Eli Sprecher, MD, PhD
Authors : Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G
Am J Hum Genet. 2006 Oct;79(4):724-30.
 
Ethnic differences in population approach and experience regarding complementary-alternative medicine (CAM).
2006
Zaher S. Azzam, MD
Authors : Krivoy N, Habib M, Azzam ZS.
Pharmacoepidemiol Drug Saf. 2006 May;15(5):348-53.
 
The influence of a human embryonic stem cell-derived microenvironment on targeting of human solid tumor xenografts.
2006
Karl Skorecki, MD
Authors : Tzukerman M, Rosenberg T, Reiter I, Ben-Eliezer S, Denkberg G, Coleman R, Reiter Y, Skorecki K.
Cancer Res. 2006 Apr 1;66(7):3792-801.
The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event.
2006
Karl Skorecki, MD
Authors : Behar DM, Metspalu E, Kivisild T, Achilli A, Hadid Y, Tzur S, Pereira L, Amorim A, Quintana-Murci L, Majamaa K, Herrnstadt C, Howell N, Balanovsky O, Kutuev I, Pshenichnov A, Gurwitz D, Bonne-Tamir B, Torroni A, Villems R, Skorecki K.
Am J Hum Genet. 2006 Mar;78(3):487-97.
A novel experimental platform for investigating cancer growth and anti-cancer therapy in a human tissue microenvironment derived from human embryonic stem cells.
2006
Karl Skorecki, MD
Authors : Tzukerman M, Skorecki KL.
Methods Mol Biol. 2006;331:329-46.
Absence of HIV-associated nephropathy in Ethiopians
2006
Karl Skorecki, MD
Authors : Behar DM, Shlush LI, Maor C, Lorber M, Skorecki K.
Am J Kidney Dis. 2006 Jan;47(1):88-94.
Neonatal transient renal failure with renal medullary hyperechogenicity: clinical and laboratory features.
2005
Israel Zelikovic, MD
Authors : Makhoul IR, Soudack M, Smolkin T, Sujov P, Epelman M, Eisenstein I, Magen D, Zelikovic I.
Pediatr Nephrol. 2005 Jul;20(7):904-9. Epub 2005 May 7. Review. PMID: 15880271
Attitudes of Israeli Muslims at risk of genetic disorders towards pregnancy termination
2005
Zvi U. Borochowitz, MD
Authors : Neter, E., Wolowelsky, Y., Borochowitz, Z. U.
Community Genet 8, 88-93.
 
Cyclophosphamide restores heart function in a patient with lupus myocarditis.
2005
Zaher S. Azzam, MD
Authors : Azzam ZS, Maza I, Zeidan-Shwiri T, Lorber M.
Isr Med Assoc J. 2005 Apr;7(4):266-7. No abstract available. PMID: 15847211
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
2005
Eli Sprecher, MD, PhD
Authors : Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E.
Hum Genet ;118:261-266.
 
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
2005
Daniella Magen, MD  |   Israel Zelikovic, MD
Authors : Magen D, Sprecher E, Zelikovic I, Skorecki K.
Kidney Int. 2005 Jan;67(1):34-41.
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
2005
Eli Sprecher, MD, PhD
Authors : Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E.
J Mol Med ;83:33-38.
 
The human paracellin-1 gene (hPCLN-1):renal epithelial cell-specific expression and regulation.
2005
Israel Zelikovic, MD
Authors : Efrati E, Arsentiev-Rozenfeld J, Zelikovic I.
Am J Physiol Renal Physiol ;288:F272-F283
 
Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome.
2004
Daniella Magen, MD  |   Israel Zelikovic, MD
Authors : Magen D, Adler L, Mandel H, Efrati E, Zelikovic I.
Am J Kidney Dis;43:600-606.
 
Growth hormone (GH) receptors in prostate cancer: gene expression in human tissues and cell lines and characterization, GH signaling and androgen receptor regulation in LNCaP cells.
2004
Ronnie J. Barkey, DSc
Authors : Weiss-Messer E, Merom O, Adi A, Karry R, Bidosee M, Ber R, Kaploun A, Stein A, Barkey RJ.
Mol Cell Endocrinol ;220:109-123.
 
MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population.
2004
Karl Skorecki, MD
Authors : Behar DM, Hammer MF, Garrigan D, Villems R, Bonne-Tamir B, Richards M, Gurwitz D, Rosengarten D, Kaplan M, Della Pergola S, Quintana-Murci L, Skorecki K.
Eur J Hum Genet ;12:355-364.
 
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
2004
Eli Sprecher, MD, PhD
Authors : Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E.
Nat Genet ;36:579-581.
 
Norepinephrine increases alveolar fluid reabsorption and Na,K-ATPase activity.
2004
Zaher S. Azzam, MD
Authors : Azzam ZS, Adir Y, Crespo A, Comellas A, Lecuona E, Dada LA, Krivoy N, Rutschman DH, Sznajder JI, Ridge KM.
Am J Respir Crit Care Med ;170:730-736.
 
Sister chromatid separation at human telomeric regions.
2004
Karl Skorecki, MD
Authors : Yalon M, Gal S, Segev Y, Selig S, Skorecki KL.
J Cell Sci;117:1961-1970.
 
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
2004
Tamar Ben-Yosef, PhD
Authors : Brownstein Z, Ben-Yosef T, Dagan O, Frydman M, Abeliovich D, Sagi M, Abraham FA, Taitelbaum-Swead R, Shohat M, Hildesheimer M, Friedman TB, Avraham KB.
Pediatr Res ;55:995-1000.
 
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
2003
Tamar Ben-Yosef, PhD
Authors : Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB.
N Engl J Med;348:1664-1670.
 
A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
2003
Israel Zelikovic, MD
Authors : Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F.
Kidney Int ;63:24-32.
 
An experimental platform for studying growth and invasiveness of tumor cells within teratomas derived from human embryonic stem cells.
2003
Karl Skorecki, MD
Authors : Tzukerman M, Rosenberg T, Ravel Y, Reiter I, Coleman R, Skorecki K.
Proc Natl Acad Sci USA ; 100:13507-13512.
 
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
2003
Tamar Ben-Yosef, PhD
Authors : Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB.
Hum Mol Genet ;12:2049-2061.
 
Na,K-ATPase overexpression improves alveolar fluid clearance in a rat model of elevated left atrial pressure.
2002
Zaher S. Azzam, MD
Authors : Azzam ZS, Dumasius V, Saldias FJ, Adir Y, Sznajder JI, Factor P.
Circulation ;105:497-501.
 
Catecholamines increase lung edema clearance in rats with increased left atrial pressure.
2001
Zaher S. Azzam, MD
Authors : Azzam ZS, Saldias FJ, Comellas A, Ridge KM, Rutschman DH, Sznajder JI.
J Appl Physiol ;90:1088-1094.
 
Shedding of growth hormone-binding protein is inhibited by hydroxamic acid-based protease inhibitors: proposed mechanism of activation of growth hormone-binding protein secretase.
2001
Ronnie J. Barkey, DSc
Authors : Amit T, Hochberg Z, Yogev-Falach M, Youdim MB, Barkey RJ.
J Endocrinol ;169:397-407.
 
Characterization and regulation of prolactin receptors in MA-10 Leydig cells.
1998
Ronnie J. Barkey, DSc
Authors : Weiss-Messer E, Ber R, Amit T, Barkey RJ.
Mol Cell Endocrinol ;143:53-64.
 
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The Nobel Prize in Chemistry 2004

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