Search details
1.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Clin Genet
; 98(4): 353-364, 2020 10.
Article
in English
| MEDLINE | ID: mdl-33111345
2.
Genotype-phenotype correlation in the presentation of retinoblastoma among 149 patients.
Exp Eye Res
; 146: 313-317, 2016 05.
Article
in English
| MEDLINE | ID: mdl-27068507
3.
Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.
J Genet Couns
; 25(2): 314-24, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26371363
4.
Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations.
Breast Cancer Res Treat
; 140(1): 207-11, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23824362
5.
Genetic counseling services and training of genetic counselors in Israel: an overview.
J Genet Couns
; 22(6): 890-6, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23435755
6.
Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations: a qualitative study of patient preferences.
Cancer
; 118(24): 6270-7, 2012 Dec 15.
Article
in English
| MEDLINE | ID: mdl-22736296
7.
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
Am J Med Genet A
; 158A(2): 298-308, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22147502
8.
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations.
Clin Endocrinol (Oxf)
; 72(4): 448-54, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-19508677
9.
Mutation spectrum in HNPCC in the Israeli population.
Fam Cancer
; 7(4): 309-17, 2008.
Article
in English
| MEDLINE | ID: mdl-18389388
10.
Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations.
J Med Genet
; 44(7): 467-71, 2007 Jul.
Article
in English
| MEDLINE | ID: mdl-17307836
11.
[Can we improve the content and quality of information delivered prior to amniocentesis?].
Harefuah
; 147(1): 16-20, 96, 95, 2008 Jan.
Article
in Hebrew
| MEDLINE | ID: mdl-18300617
12.
A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.
BMC Cancer
; 7: 14, 2007 Jan 18.
Article
in English
| MEDLINE | ID: mdl-17233897
13.
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases.
JAMA
; 298(11): 1281-90, 2007 Sep 19.
Article
in English
| MEDLINE | ID: mdl-17878420
14.
[A new oncogenetic service of counseling and diagnosing for hereditary non-polyposis colorectal cancer (HNPCC)].
Harefuah
; 146(7): 510-4, 576, 575, 2007 Jul.
Article
in Hebrew
| MEDLINE | ID: mdl-17803162
15.
Acceptance of preventive surgeries by Israeli women who had undergone BRCA testing.
Fam Cancer
; 5(4): 327-35, 2006.
Article
in English
| MEDLINE | ID: mdl-16724248
16.
A novel MLH1 mutation harbored as a germ line aberration by a young woman of an HNPCC-like family and exhibited by a CML patient when occurring prior to the initiation of the blast phase concomitant with a c-MYC amplification.
Int J Mol Med
; 17(6): 1023-6, 2006 Jun.
Article
in English
| MEDLINE | ID: mdl-16685411
17.
[Prophylactic oophorectomy among carriers of BRCA1/2 mutations--demographic and pathologic data].
Harefuah
; 145(1): 13-7, 79-80, 2006 Jan.
Article
in Hebrew
| MEDLINE | ID: mdl-16450717
18.
An Ashkenazi founder mutation in the PKHD1 gene.
Eur J Med Genet
; 59(2): 86-90, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26721323
19.
Genetic screening in patients with Retinoblastoma in Israel.
Fam Cancer
; 14(3): 471-80, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25754945
20.
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Sci Rep
; 5: 13187, 2015 Aug 26.
Article
in English
| MEDLINE | ID: mdl-26306921