Detalhe da pesquisa
1.
Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.
J Hum Genet
; 62(3): 379-387, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27928164
2.
Deregulation of sertoli and leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis.
BMC Genomics
; 16: 156, 2015 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25879484
3.
Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.
Cytogenet Genome Res
; 146(2): 115-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26278570
4.
Additional chromosomal abnormalities in Philadelphia-positive clone: adverse prognostic influence on frontline imatinib therapy: a GIMEMA Working Party on CML analysis.
Blood
; 120(4): 761-7, 2012 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692507
5.
Gene expression modifications in Wharton's Jelly mesenchymal stem cells promoted by prolonged in vitro culturing.
BMC Genomics
; 14: 635, 2013 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24053474
6.
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Am J Hum Genet
; 87(2): 265-73, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20691405
7.
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.
BMC Med Genet
; 14: 79, 2013 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23914933
8.
Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.
Int J Mol Sci
; 13(3): 3245-3276, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22489151
9.
Genetics of syndromic and nonsyndromic cleft lip and palate.
J Craniofac Surg
; 22(5): 1722-6, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21959420
10.
Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion.
BMC Genomics
; 11: 401, 2010 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20576090
11.
Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome.
J Craniofac Surg
; 21(5): 1654-6, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20856073
12.
Isolation of osteogenic progenitors from human amniotic fluid using a single step culture protocol.
BMC Biotechnol
; 9: 9, 2009 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-19220883
13.
Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring.
Neurosci Lett
; 449(1): 15-9, 2009 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-18983896
14.
Non-invasive prenatal screening: A 20-year experience in Italy.
Eur J Obstet Gynecol Reprod Biol X
; 3: 100050, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403132
15.
HNRNPL Restrains miR-155 Targeting of BUB1 to Stabilize Aberrant Karyotypes of Transformed Cells in Chronic Lymphocytic Leukemia.
Cancers (Basel)
; 11(4)2019 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018621
16.
Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.
J Genet
; 97(1): 311-317, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29666350
17.
Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation.
Oncotarget
; 9(16): 13036-13047, 2018 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29560129
18.
Long-term remission in BCR/ABL-positive AML-M6 patient treated with Imatinib Mesylate.
Leuk Res
; 31(4): 563-7, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16916543
19.
A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer.
Clin Case Rep
; 5(3): 238-240, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28265380
20.
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.
Mol Syndromol
; 8(1): 42-44, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28232782