Detalhe da pesquisa
1.
Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.
Haemophilia
; 29(3): 844-854, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36930806
2.
Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: proof of concept.
Clin Chem Lab Med
; 59(12): e449-e453, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34162038
3.
Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR.
Int J Mol Sci
; 12(10): 7271-85, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072947
4.
BAX/BCL-XL gene expression ratio inversely correlates with disease progression in chronic myeloid leukemia.
Blood Cells Mol Dis
; 45(3): 192-6, 2010 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20728382
5.
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.
Haematologica
; 92(6): 842-5, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17550859
6.
Homeologous recombination between AluSx-sequences as a cause of hemophilia.
Hum Mutat
; 24(5): 440, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15459970
7.
Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature.
Blood Coagul Fibrinolysis
; 15(7): 569-72, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15389123
8.
Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples.
Prenat Diagn
; 29(12): 1183-5, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19842127
9.
Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.
Mol Cell Endocrinol
; 381(1-2): 220-9, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23933148
10.
The CpG island in intron 22 of the factor VIII gene is predominantly methylated on the X chromosome of human males.
J Hum Genet
; 47(5): 239-42, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12032591
11.
Rapid genotyping of XbaI and MspI DNA polymorphisms of the human factor VIII gene: estimation of their combined heterozygosity in the Argentinean population.
Haematologica
; 88(2): 232-4, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12604420
12.
Genetica molecular de la hemofilia A / Molecular genetics of hemophilia A
Medicina (B.Aires)
; 56(5/1): 509-17, sept.-oct. 1996.
Artigo
em Espanhol
| LILACS | ID: lil-188416