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Results: 1-23 |
Results: 23
Familial Mediterranean fever: prevalence, penetrance and genetic drift
Authors: Gershoni-Baruch, R Shinawi, M Leah, K Badarnah, K Brik, R
Citation: R. Gershoni-baruch et al., Familial Mediterranean fever: prevalence, penetrance and genetic drift, EUR J HUM G, 9(8), 2001, pp. 634-637
Caudal dysplasia sequence with penile enlargement: Case report and a potential pathogenic hypothesis
Authors: Makhoul, IR Aviram-Goldring, A Paperna, T Sujov, P Rienstein, S Smolkin, T Epelman, M Gershoni-Baruch, R
Citation: Ir. Makhoul et al., Caudal dysplasia sequence with penile enlargement: Case report and a potential pathogenic hypothesis, AM J MED G, 99(1), 2001, pp. 54-58
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
Authors: Cormand, B Pihko, H Bayes, M Valanne, L Santavuori, P Talim, B Gershoni-Baruch, R Ahmad, A van Bokhoven, H Brunner, HG Voit, T Topaloglu, H Dobyns, WB Lehesjoki, AE
Citation: B. Cormand et al., Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease, NEUROLOGY, 56(8), 2001, pp. 1059-1069
A single nucleotide polymorphism in the RAD51 gene modifies cancer risk inBRCA2 but not BRCA1 carriers
Authors: Levy-Lahad, E Lahad, A Eisenberg, S Dagan, E Paperna, T Kasinetz, L Catane, R Kaufman, B Beller, U Renbaum, P Gershoni-Baruch, R
Citation: E. Levy-lahad et al., A single nucleotide polymorphism in the RAD51 gene modifies cancer risk inBRCA2 but not BRCA1 carriers, P NAS US, 98(6), 2001, pp. 3232-3236
Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain
Authors: Brik, R Litmanovitz, D Berkowitz, D Shamir, R Rosenthal, E Shinawi, M Gershoni-Baruch, R
Citation: R. Brik et al., Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain, J PEDIAT, 138(5), 2001, pp. 759-762
Hereditary breast/ovarian cancer - pitfalls in genetic counseling
Authors: Dagan, E Gershoni-Baruch, R
Citation: E. Dagan et R. Gershoni-baruch, Hereditary breast/ovarian cancer - pitfalls in genetic counseling, CLIN GENET, 60(4), 2001, pp. 310-313
The musculoskeletal manifestations of Familial Mediterranean fever in children genetically diagnosed with the disease
Authors: Brik, R Shinawi, M Kasinetz, L Gershoni-Baruch, R
Citation: R. Brik et al., The musculoskeletal manifestations of Familial Mediterranean fever in children genetically diagnosed with the disease, ARTH RHEUM, 44(6), 2001, pp. 1416-1419
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease
Authors: Janssens, K Gershoni-Baruch, R Guanabens, N Migone, N Ralston, S Bonduelle, M Lissens, W Van Maldergem, L Vanhoenacker, F Verbruggen, L Van Hul, W
Citation: K. Janssens et al., Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease, NAT GENET, 26(3), 2000, pp. 273-275
Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer
Authors: Gershoni-Baruch, R Dagan, E Fried, G Bar-Sade, RB Sverdlov-Shiri, R Zelicksson, G Friedman, E
Citation: R. Gershoni-baruch et al., Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer, EUR J CANC, 36(8), 2000, pp. 983-986
Association of the C677T polymorphism in the MTHFR gene with breast and/orovarian cancer risk in Jewish women
Authors: Gershoni-Baruch, R Dagan, E Israeli, D Kasinetz, L Kadouri, E Friedman, E
Citation: R. Gershoni-baruch et al., Association of the C677T polymorphism in the MTHFR gene with breast and/orovarian cancer risk in Jewish women, EUR J CANC, 36(18), 2000, pp. 2313-2316
Familial Mediterranean fever: High gene frequency and heterogeneous disease among an Israeli-Arab population
Authors: Shinawi, M Brik, R Berant, M Kasinetz, L Gershoni-Baruch, R
Citation: M. Shinawi et al., Familial Mediterranean fever: High gene frequency and heterogeneous disease among an Israeli-Arab population, J RHEUMATOL, 27(6), 2000, pp. 1492-1495
Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis
Authors: Jayoussi-Assalia, R Etzioni, A Notarangelo, LD Brill-Zamir, R Kasinetz, L Kadouri, E Gershoni-Baruch, R
Citation: R. Jayoussi-assalia et al., Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis, PRENAT DIAG, 20(10), 2000, pp. 822-823
Is inversion 16 a prerequisite and is trisomy 22 invariably associated with inversion 16 in AML-M4eo?
Authors: Litmanovich, D Zamir-Brill, R Jeison, M Gershoni-Baruch, R
Citation: D. Litmanovich et al., Is inversion 16 a prerequisite and is trisomy 22 invariably associated with inversion 16 in AML-M4eo?, CANC GENET, 121(1), 2000, pp. 106-106
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism
Authors: Knopf, C Rod, R Jaeken, J Berant, M Van Schaftingen, E Fryns, JP Brill-Zamir, R Gershoni-Baruch, R Lischinsky, S Mandel, H
Citation: C. Knopf et al., Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism, J INH MET D, 23(4), 2000, pp. 399-403
Detection of transplanted liver cells to the spleen by semiquantitative analysis using PCR for the Sry region on the Y chromosome
Authors: Veitzman, E Shenkar, L Shoshany, G Kasinetz, L Gershoni-Baruch, R Zamir, RB Baruch, Y
Citation: E. Veitzman et al., Detection of transplanted liver cells to the spleen by semiquantitative analysis using PCR for the Sry region on the Y chromosome, TRANSPLAN P, 32(4), 2000, pp. 721-723
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13
Authors: Janssens, K Gershoni-Baruch, R Van Hul, E Brik, R Guanabens, N Migone, N Verbruggen, LA Ralston, SH Bonduelle, M Van Maldergem, L Vanhoenacker, F Van Hul, W
Citation: K. Janssens et al., Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13, J MED GENET, 37(4), 2000, pp. 245-249
Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers
Authors: Gershoni-Baruch, R Patael, Y",Dagan,"Figer, A Kasinetz, L Kadouri, E Bar Sade, RB Friedman, E
Citation: R. Gershoni-baruch et al., Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers, BR J CANC, 83(2), 2000, pp. 153-155
The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor
Authors: Tiosano, D Pannain, S Vassart, G Parma, J Gershoni-Baruch, R Mandel, H Lotan, R Zaharan, Y Pery, M Weiss, RE Refetoff, S Hochberg, Z
Citation: D. Tiosano et al., The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor, THYROID, 9(9), 1999, pp. 887-894
BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer
Authors: Gershoni-Baruch, R Dagan, E Fried, G Kepten, I Robinson, E
Citation: R. Gershoni-baruch et al., BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer, EUR J HUM G, 7(7), 1999, pp. 833-836
Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews
Authors: Patael, Y Figer, A Gershoni-Baruch, R Papa, MZ Risel, S Shtoyerman-Chen, R Karasik, A Theodor, L Friedman, E
Citation: Y. Patael et al., Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews, EUR J HUM G, 7(5), 1999, pp. 555-559
Familial Mediterranean fever: Clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients
Authors: Brik, R Shinawi, M Kepten, I Berant, M Gershoni-Baruch, R
Citation: R. Brik et al., Familial Mediterranean fever: Clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients, PEDIATRICS, 103(5), 1999, pp. E701-E704
The D allele of the angiotensin-converting enzyme gene contributes towardsblood LDL-cholesterol levels and the presence of hypertension
Authors: Oren, I Brook, JG Gershoni-Baruch, R Kepten, I Tamir, A Linn, S Wolfovitz, E
Citation: I. Oren et al., The D allele of the angiotensin-converting enzyme gene contributes towardsblood LDL-cholesterol levels and the presence of hypertension, ATHEROSCLER, 145(2), 1999, pp. 267-271
Ovarian dysplasia in prophylactic oophorectomy specimens - Cytogenetic andmorphometric correlations
Authors: Deligdisch, L Gil, J Kerner, H Wu, HS Beck, D Gershoni-Baruch, R
Citation: L. Deligdisch et al., Ovarian dysplasia in prophylactic oophorectomy specimens - Cytogenetic andmorphometric correlations, CANCER, 86(8), 1999, pp. 1544-1550
Risultati: 1-23 |