Detalhe da pesquisa
1.
The types and frequencies of X chromosome abnormalities in women with reproductive problems.
Cytogenet Genome Res
; 2023 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788650
2.
The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients.
J Assist Reprod Genet
; 39(6): 1341-1349, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338417
3.
Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF.
Cytogenet Genome Res
; 161(12): 551-555, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051945
4.
Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit.
Blood Cells Mol Dis
; 76: 32-39, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30709626
5.
A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.
Mol Cell Probes
; 30(4): 254-260, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27417533
6.
Phenotypic variability and molecular genetics in proximal myotonic myopathy.
Muscle Nerve
; 51(5): 686-91, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25186227
7.
Screening non-deletion α-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis.
Clin Chem Lab Med
; 53(12): 1951-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26035111
8.
Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.
Hemoglobin
; 39(1): 55-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25476779
9.
Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the ß-globin locus.
Br J Haematol
; 186(6): e165-e170, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206601
10.
Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.
Am J Med Genet A
; 164A(3): 666-70, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375959
11.
A generic, flexible protocol for preimplantation human leukocyte antigen typing alone or in combination with a monogenic disease, for rapid case work-up and application.
Hemoglobin
; 38(1): 49-55, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24131134
12.
A minimal set of SNPs for the noninvasive prenatal diagnosis of ß-thalassaemia.
Ann Hum Genet
; 77(2): 115-24, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23362932
13.
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.
Pediatr Res
; 73(6): 772-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23481551
14.
RASSF1A in maternal plasma as a molecular marker of preeclampsia.
Prenat Diagn
; 33(7): 682-7, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23526657
15.
A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and ß-thalassemia trait.
Eur J Haematol
; 88(4): 356-62, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22324317
16.
Microsatellite markers within the α-globin gene cluster for robust preimplantation genetic diagnosis of severe α-thalassemia syndromes in Mediterranean populations.
Hemoglobin
; 36(3): 253-64, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22452522
17.
Genotyping of ß-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.
Hemoglobin
; 36(3): 230-43, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22524255
18.
A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.
J Hum Reprod Sci
; 15(3): 307-317, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36341017
19.
Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105+ cells.
J Cell Mol Med
; 15(9): 1983-8, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20731745
20.
Absolute quantification of the alleles in somatic point mutations by bioluminometric methods based on competitive polymerase chain reaction in the presence of a locked nucleic acid blocker or an allele-specific primer.
Anal Chem
; 83(17): 6545-51, 2011 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21797212