Detalhe da pesquisa
1.
Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.
Clin Genet
; 93(4): 860-869, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194579
2.
Dormancy and activation of human oocytes from primordial and primary follicles: molecular clues to oocyte regulation.
Hum Reprod
; 32(8): 1684-1700, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28854595
3.
Disease pattern in Danish patients with Peutz-Jeghers syndrome.
Int J Colorectal Dis
; 31(5): 997-1004, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26979979
4.
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma.
Clin Genet
; 88(3): 267-72, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25225168
5.
Aneuploidy is frequent in heterozygous diploid and triploid hydatidiform moles.
Sci Rep
; 14(1): 6876, 2024 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38519579
6.
NLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.
Mol Hum Reprod
; 19(11): 773-81, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23963444
7.
Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy.
Prenat Diagn
; 33(12): 1131-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23881788
8.
Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.
Mol Hum Reprod
; 18(12): 593-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22909446
9.
A genome-wide scan in affected sibling pairs with idiopathic recurrent miscarriage suggests genetic linkage.
Mol Hum Reprod
; 17(6): 379-85, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21257601
10.
Breast cancer after bilateral risk-reducing mastectomy.
Clin Genet
; 79(5): 431-7, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21199491
11.
Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing.
Clin Genet
; 77(4): 342-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20059483
12.
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
J Med Genet
; 44(11): 702-9, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17873119
13.
Differences in current clinical features of diploid and triploid hydatidiform mole.
BJOG
; 114(10): 1273-7, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17655732
14.
Microdissection of chromosome 2--between-arm intrachromosomal insertion.
Eur J Hum Genet
; 8(5): 393-5, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10854102
15.
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
Eur J Hum Genet
; 9(11): 823-8, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11781698
16.
Localization and significance of urokinase plasminogen activator and its receptor in placental tissue from intrauterine, ectopic and molar pregnancies.
Placenta
; 20(8): 711-21, 1999 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-10527826
17.
Does plasminogen activator inhibitor-1 (PAI-1) control trophoblast invasion? A study of fetal and maternal tissue in intrauterine, tubal and molar pregnancies.
Placenta
; 21(8): 754-62, 2000 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11095924
18.
Hydatidiform mole and fetus with normal karyotype: support of a separate entity.
Obstet Gynecol
; 77(6): 868-74, 1991 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-2030859
19.
Genetic analysis of repeated, biparental, diploid, hydatidiform moles.
Cancer Genet Cytogenet
; 66(1): 16-22, 1993 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-8096796
20.
Genetically different cell subpopulations in hydatidiform moles. A study of three cases by RFLP, flow cytometric, cytogenetic, HLA, and morphologic analyses.
Cancer Genet Cytogenet
; 37(2): 179-92, 1989 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-2564805