Detalhe da pesquisa
1.
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
Clin Genet
; 93(3): 595-602, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28802053
2.
Obstetric and neonatal complications in pregnancies conceived after oocyte donation: a systematic review and meta-analysis.
BJOG
; 124(4): 561-572, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27592694
3.
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
Clin Genet
; 88(1): 68-73, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24989076
4.
A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.
Eur Arch Otorhinolaryngol
; 272(8): 2045-53, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24973967
5.
Overabundant FANCD2, alone and combined with NQO1, is a sensitive marker of adverse prognosis in breast cancer.
Ann Oncol
; 24(11): 2780-5, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897704
6.
Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility.
Nat Genet
; 15(2): 205-6, 1997 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-9020851
7.
Anti-Mullerian hormone as a predictor of follicular reserve in ovarian insufficiency: special emphasis on FSH-resistant ovaries.
Hum Reprod
; 27(3): 854-60, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258659
8.
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Br J Cancer
; 104(8): 1356-61, 2011 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21427728
9.
High cyclin B1 expression is associated with poor survival in breast cancer.
Br J Cancer
; 100(7): 1055-60, 2009 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-19293801
10.
Children born after cryopreservation of embryos or oocytes: a systematic review of outcome data.
Hum Reprod
; 24(9): 2158-72, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19458318
11.
Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease.
J Med Genet
; 44(11): 718-20, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17660462
12.
Recent developments in genetics and medically assisted reproduction: from research to clinical applications.
Eur J Hum Genet
; 26(1): 12-33, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29199274
13.
Increased risk of cancer in patients with fumarate hydratase germline mutation.
J Med Genet
; 43(6): 523-6, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16155190
14.
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome.
J Med Genet
; 43(5): e18, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16648371
15.
Recent developments in genetics and medically-assisted reproduction: from research to clinical applications.
Hum Reprod Open
; 2017(3): hox015, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-31486804
16.
No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.
J Med Genet
; 42(4): e22, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15805151
17.
p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.
Cancer Res
; 61(15): 5718-22, 2001 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11479205
18.
Effects of oral and transdermal estradiol administration on levels of sex hormone-binding globulin in postmenopausal women with and without a history of intrahepatic cholestasis of pregnancy.
J Clin Endocrinol Metab
; 90(6): 3431-4, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15784702
19.
Levels of serum C-reactive protein during oral and transdermal estradiol in postmenopausal women with and without a history of intrahepatic cholestasis of pregnancy.
J Clin Endocrinol Metab
; 90(1): 142-6, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15522941
20.
Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.
J Clin Endocrinol Metab
; 81(10): 3722-6, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8855829