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1.
BRCA carriers after risk-reducing bilateral salpingo-oophorectomy: menopausal hormone therapy knowledge gaps, and the impact of physicians' recommendations.
Climacteric
; 26(2): 154-160, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36866779
2.
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
Breast Cancer Res Treat
; 193(1): 217-224, 2022 May.
Article
in English
| MEDLINE | ID: mdl-35278150
3.
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
Ann Oncol
; 34(1): 33-47, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36307055
4.
Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Clin Genet
; 90(6): 540-544, 2016 12.
Article
in English
| MEDLINE | ID: mdl-26925547
5.
A role for TENM1 mutations in congenital general anosmia.
Clin Genet
; 90(3): 211-9, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27040985
6.
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Clin Genet
; 87(5): 461-6, 2015 May.
Article
in English
| MEDLINE | ID: mdl-24805811
7.
Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: a proof of principle study.
J Assist Reprod Genet
; 30(12): 1595-603, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-23832269
8.
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
Nat Genet
; 27(1): 18-20, 2001 Jan.
Article
in English
| MEDLINE | ID: mdl-11137992
9.
Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease.
Nat Med
; 2(8): 864-70, 1996 Aug.
Article
in English
| MEDLINE | ID: mdl-8705854
10.
A familial Alzheimer's disease locus on chromosome 1.
Science
; 269(5226): 970-3, 1995 Aug 18.
Article
in English
| MEDLINE | ID: mdl-7638621
11.
Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
Science
; 269(5226): 973-7, 1995 Aug 18.
Article
in English
| MEDLINE | ID: mdl-7638622
12.
Attitudes of couples identified through screening as carriers of Gaucher disease type 1.
Clin Genet
; 74(6): 566-70, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-18651845
13.
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency.
Fetal Diagn Ther
; 24(3): 170-6, 2008.
Article
in English
| MEDLINE | ID: mdl-18753752
14.
Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment.
Am J Med
; 97(1): 3-13, 1994 Jul.
Article
in English
| MEDLINE | ID: mdl-8030654
15.
Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes.
Pediatrics
; 104(1 Pt 1): 68-74, 1999 Jul.
Article
in English
| MEDLINE | ID: mdl-10390262
16.
Incidence of thrombophilia in patients with Gaucher disease.
Am J Med Genet
; 95(5): 429-31, 2000 Dec 18.
Article
in English
| MEDLINE | ID: mdl-11146461
17.
BRCA1 germline mutations in women with uterine serous papillary carcinoma.
Obstet Gynecol
; 96(1): 28-32, 2000 Jul.
Article
in English
| MEDLINE | ID: mdl-10862837
18.
Recent advances in the genetics of Alzheimer's disease.
J Geriatr Psychiatry Neurol
; 11(2): 42-54, 1998.
Article
in English
| MEDLINE | ID: mdl-9877525
19.
The founder mutations in the BRCA1, BRCA2, and ATM genes in Moroccan Jewish women with breast cancer.
Genet Test
; 4(4): 403-7, 2000.
Article
in English
| MEDLINE | ID: mdl-11216667
20.
[Combination of heterozygote blood coagulation factor V Leiden carriage with erythrocytosis as a cause of the hip deep vein thrombosis]. / Sochetanie geterozigotnogo nositel'stva leidenskoi mutatsii faktora svertyvaniia krovi s éritrotsitozom kak prichina tromboza glubokikh ven bedra.
Ter Arkh
; 74(2): 66-70, 2002.
Article
in Russian
| MEDLINE | ID: mdl-11899832