Human Genetics and Molecular Medicine
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Hypothalamic Obesity
2009
Endocr Dev. 2010;17:185-196.
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Androgen Replacement Therapy in Turner Syndrome: A Pilot Study
2009
Ze'ev Hochberg, MD, PhDAuthors : 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]
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In vitro fertilisation and use of ovulation enhancers may both influence childhood height in very low birthweight infants
2009
Ze'ev Hochberg, MD, PhDAuthors : 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
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Ovarian Function Preservation by GnRH Agonists during Chemotherapy
2009
J Womens Health (Larchmt). 2009 Aug 26
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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
Muscle Nerve. 2009 Aug 20
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Hypophosphatemia: the common denominator of all rickets
2009
J Bone Miner Metab. 2009;27(4):392-401.
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Adherence to guidelines improves the clinical outcome of patients with acutely decompensated heart failure
2009
Zaher S. Azzam, MDAuthors : Braun E, Landsman K, Zuckerman R, Berger G, Meilik A, Azzam ZS.
Isr Med Assoc J. 2009 Jun;11(6):348-53.
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Parental and perinatal factors affecting childhood anthropometry of very-low-birth-weight premature infants: a population-based survey
2009
Ze'ev Hochberg, MD, PhDAuthors : 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.
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The beneficial role of gonadotropin releasing hormone agonists on fertility preservation
2009
Pediatr Blood Cancer. 2009 May 29.
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Gonadotropin-releasing hormone analogues in fertility preservation-"Evidence-based medicine or just a theory?"
2009
Fertil Steril. 2009 May 22.
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Catastrophic antiphospholipid syndrome presented with abdominal, pulmonary, and bone marrow complications
2009
Rheumatol Int. 2009 May 18.
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A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability
2009
Am J Med Genet B Neuropsychiatr Genet. 2009 Mar 23. [Epub ahead of print]
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Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations
2009
Tamar Ben-Yosef, PhDAuthors : 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.
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Telephone follow-up improves patients satisfaction following hospital discharge
2009
Eur J Intern Med. 2009 Mar;20(2):221-5. Epub 2008 Aug 28
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Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping
2009
Tamar Ben-Yosef, PhDAuthors : 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
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Mutations in DDR2 Gene cause SMED with short limbs and abnormal calcifications
2009
Zvi U. Borochowitz, MDAuthors : 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.
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Niche-dependent tumorigenic capacity of malignant ovarian ascites-derived cancer cell subpopulations
2009
Clin Cancer Res. 2009 Jan 1;15(1):70-80.
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Distribution of TPMT risk alleles for thioupurine toxicity in the Israeli population
2008
Eur J Clin Pharmacol. 2008 Dec 2. [Epub ahead of print]
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Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy
2008
Ze'ev Hochberg, MD, PhDAuthors : German, A., Suraiya, S., Tenenbaum-Rakover, Y., Koren, I., Pillar, G., Hochberg, Z.
J Clin Endocrinol Metab 93, 4707-4710.
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Population screening in a Druze community: the challenge and the reward
2008
Tzipora C. Falik-Zaccai, MDAuthors : 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.
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Novel mutations in DSG1 causing striate palmoplantar keratoderma
2008
Clin Exp Dermatol. 2008 Nov 6. [Epub ahead of print]
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GnRH-analogues and oral contraceptives for fertility preservation in women during chemotherapy
2008
Hum Reprod Update 14, 543-552.
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Patterns of alveolar fluid clearance in heart failure
2008
Int J Cardiol. 2008 Nov 12;130(2):125-30. Epub 2008 Jun 24
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Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis
2008
Biochim Biophys Acta. 2008 Oct 25. [Epub ahead of print]
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Ashkenazi Jewish centenarians do not demonstrate enrichment in mitochondrial haplogroup J
2008
Karl Skorecki, MDAuthors : Shlush LI, Atzmon G, Weisshof R, Behar D, Yudkovsky G, Barzilai N, Skorecki K.
PLoS ONE. 2008;3(10):e3425. Epub 2008 Oct 16
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GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity
2008
Biochim Biophys Acta. 2008 Oct 11. [Epub ahead of print]
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Monogenic pigmentary skin disorders: genetics and pathophysiology
2008
Isr Med Assoc J. 2008 Oct;10(10):713-7
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A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
2008
Eli Sprecher, MD, PhDAuthors : 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]
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Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
2008
Karl Skorecki, MDAuthors : Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K, Selig S.
Hum Mol Genet. 2008 Sep 15;17(18):2776-89. Epub 2008 Jun 16
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Dilated cardiomyopathy: an unusual complication of clozapine therapy
2008
Nat Clin Pract Cardiovasc Med. 2008 Sep;5(9):566-70. Epub 2008 Jul 15
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Double gene deletion reveals lack of cooperation between claudin 11 and claudin 14 tight junction proteins
2008
Cell Tissue Res. 2008 Sep;333(3):427-38. Epub 2008 Jul 29
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Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis
2008
Eli Sprecher, MD, PhDAuthors : 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
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A novel mutation in RASA1 causes capillary malformation and limb enlargement
2008
Arch Dermatol Res. 2008 Aug;300(7):385-8
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PNPO deficiency: An under diagnosed inborn error of pyridoxine metabolism
2008
Tzipora C. Falik-Zaccai, MDAuthors : 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.
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Clinical quiz: Mysterious hyperkalemia and cardiac arrest in a newborn infant undergoing continuous veno-venous hemofiltration dialysis: acute hyperkalemia
2008
Israel Zelikovic, MDAuthors : 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
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Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
2008
Daniella Magen, MD | Karl Skorecki, MDAuthors : 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.
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Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6
2008
Tzipora C. Falik-Zaccai, MDAuthors : Falik-Zaccai, T. C., Lasker, M., Kfir, N., Nasser, W., Slor, H., Khayat, M.
Am J Med Genet A 146A, 1423-1429.
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KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-Induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
2008
Eli Sprecher, MD, PhDAuthors : 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.
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Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
2008
Karl Skorecki, MDAuthors : 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. Epub 2007 Dec 20.
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The Druze: a population genetic refugium of the Near East.
2008
Karl Skorecki, MDAuthors : Shlush LI, Behar DM, Yudkovsky G, Templeton A, Hadid Y, Basis F,
PLoS ONE. 2008 May 7;3(5):e2105.
PMID: 18461126
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Molecular mechanisms of epithelial cell-specific expression and regulation of the human anion exchanger (pendrin) gene
2008
Am J Physiol Cell Physiol. 2008 May;294(5):C1261-76. Epub 2008 Mar 5.
PMID: 18322141
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Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora.
2008
Karl Skorecki, MDAuthors : 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.
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A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
2008
Mol Vis. 2008 Apr 21;14:675-82.
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A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
2008
Am J Dermatopathol. 2008 Apr;30(2):101-5.
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Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B
2008
Eli Sprecher, MD, PhDAuthors : 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.
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Disentangling the roots of inherited hair disorders.
2008
Nat Genet. 2008 Mar;40(3):265-6.
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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, PhDAuthors : Tiosano, D., Knopf, C., Koren, I., Levanon, N., Hartmann, M. F., Hochberg, Z., Wudy, S. A.
Eur J Endocrinol 158, 385-392.
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Rapid detection of homozygous mutations in congenital recessive ichthyosis.
2008
Arch Dermatol Res. 2008 Feb;300(2):81-5.
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SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
2008
Zvi U. Borochowitz, MD | Eli Sprecher, MD, PhDAuthors : 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.
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Clinical and experimental pain perception is attenuated in patients with painless myocardial infarction.
2007
Pain. 2007 Dec 15;133(1-3):120-7. Epub 2007
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A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
2007
Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5431-8.
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Familial palmoplantar keratoderma: not always hereditary.
2007
J Eur Acad Dermatol Venereol. 2007 Nov;21(10):1437-8.
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In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome.
2007
Hum Genet. 2007 Nov;122(3-4):373-81.
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Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.
2007
J Am Acad Dermatol. 2007 Sep;57(3):463-6.
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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
Oncologist 12, 1044-1054.
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The neuroprotective effect of Activin A and B: implication for neurodegenerative diseases
2007
Moussa B.H. Youdim, PhD | Zeev Blumenfeld, MDAuthors : Kupershmidt, L., Amit, T., Bar-Am, O., Youdim, M. B. H., Blumenfeld, Z.
J Neurochem 103, 962-971.
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Identification of mutations in the human hairless gene in two new families with congenital atrichia.
2007
Eli Sprecher, MD, PhDAuthors : 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
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Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease.
2007
Curr Rheumatol Rep. 2007 Jun;9(3):237-42.
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Abetalipoproteinemia in Israel: Evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient
2007
Mol Genet Metab. 2007 Apr;90(4):453-457.
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Clinical significance of the parental origin of the X chromosome in Turner syndrome
2007
Ze'ev Hochberg, MD, PhDAuthors : 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.
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Galli-Galli disease is an acantholytic variant of Dowling-Degos disease.
2007
Br J Dermatol. 2007 Mar;156(3):572-4.
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Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy.
2007
Eli Sprecher, MD, PhDAuthors : 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.
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Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.
2007
Br J Dermatol. 2007 Feb;156(2):375-7.
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Alveolar fluid reabsorption is increased in rats with compensated heart failure.
2006
Zaher S. Azzam, MDAuthors : 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
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The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males.
2006
Karl Skorecki, MDAuthors : Rosenberg S, Templeton AR, Feigin PD, Lancet D, Beckmann JS, Selig S, Hamer DH
Hum Genet. 2006 Nov;120(4):447-59.
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A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
2006
Eli Sprecher, MD, PhDAuthors : 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.
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Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
2006
Eli Sprecher, MD, PhDAuthors : 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.
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Ethnic differences in population approach and experience regarding complementary-alternative medicine (CAM).
2006
Pharmacoepidemiol Drug Saf. 2006 May;15(5):348-53.
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The influence of a human embryonic stem cell-derived microenvironment on targeting of human solid tumor xenografts.
2006
Karl Skorecki, MDAuthors : 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.
PMID: 16585206
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The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event.
2006
Karl Skorecki, MDAuthors : 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. Epub 2006 Jan 11.
PMID: 16404693
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A novel experimental platform for investigating cancer growth and anti-cancer therapy in a human tissue microenvironment derived from human embryonic stem cells.
2006
Methods Mol Biol. 2006;331:329-46.
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Absence of HIV-associated nephropathy in Ethiopians
2006
Am J Kidney Dis. 2006 Jan;47(1):88-94.
PMID: 16377389
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Neonatal transient renal failure with renal medullary hyperechogenicity: clinical and laboratory features.
2005
Israel Zelikovic, MDAuthors : 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
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Attitudes of Israeli Muslims at risk of genetic disorders towards pregnancy termination
2005
Community Genet 8, 88-93.
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Cyclophosphamide restores heart function in a patient with lupus myocarditis.
2005
Isr Med Assoc J. 2005 Apr;7(4):266-7. No abstract available.
PMID: 15847211
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A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
2005
Eli Sprecher, MD, PhDAuthors : 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.
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A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
2005
Kidney Int. 2005 Jan;67(1):34-41.
PMID: 15610225
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Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.
2005
Eli Sprecher, MD, PhDAuthors : Frishberg Y, Topaz O, Bergman R, Behar D, Fisher D, Gordon D, Richard G, Sprecher E.
J Mol Med ;83:33-38.
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The human paracellin-1 gene (hPCLN-1):renal epithelial cell-specific expression and regulation.
2005
Am J Physiol Renal Physiol ;288:F272-F283
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Autosomal recessive renal proximal tubulopathy and hypercalciuria: a new syndrome.
2004
Am J Kidney Dis;43:600-606.
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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, DScAuthors : 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.
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MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population.
2004
Karl Skorecki, MDAuthors : 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.
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Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
2004
Eli Sprecher, MD, PhDAuthors : 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.
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Norepinephrine increases alveolar fluid reabsorption and Na,K-ATPase activity.
2004
Zaher S. Azzam, MDAuthors : 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.
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Sister chromatid separation at human telomeric regions.
2004
J Cell Sci;117:1961-1970.
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The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
2004
Tamar Ben-Yosef, PhDAuthors : 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.
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A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
2003
Tamar Ben-Yosef, PhDAuthors : 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.
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A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes.
2003
Israel Zelikovic, MDAuthors : Zelikovic I, Szargel R, Hawash A, Labay V, Hatib I, Cohen N, Nakhoul F.
Kidney Int ;63:24-32.
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An experimental platform for studying growth and invasiveness of tumor cells within teratomas derived from human embryonic stem cells.
2003
Karl Skorecki, MDAuthors : Tzukerman M, Rosenberg T, Ravel Y, Reiter I, Coleman R, Skorecki K.
Proc Natl Acad Sci USA ; 100:13507-13512.
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Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
2003
Tamar Ben-Yosef, PhDAuthors : 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.
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Na,K-ATPase overexpression improves alveolar fluid clearance in a rat model of elevated left atrial pressure.
2002
Zaher S. Azzam, MDAuthors : Azzam ZS, Dumasius V, Saldias FJ, Adir Y, Sznajder JI, Factor P.
Circulation ;105:497-501.
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Catecholamines increase lung edema clearance in rats with increased left atrial pressure.
2001
Zaher S. Azzam, MDAuthors : Azzam ZS, Saldias FJ, Comellas A, Ridge KM, Rutschman DH, Sznajder JI.
J Appl Physiol ;90:1088-1094.
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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
J Endocrinol ;169:397-407.
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Characterization and regulation of prolactin receptors in MA-10 Leydig cells.
1998
Mol Cell Endocrinol ;143:53-64.
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