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De novo dup p/del q or dup q/del p rearranged chromosomes: Review of 104 cases of a distinct chromosomal mutation
(2013)
We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic ...
Caracterização de genes de Trypanosoma cruzi envolvidos na via de biossíntese de glicosilfosfatidilinositol
(Universidade Federal de Minas GeraisUFMG, 2013-08-26)
Glycosylphosphatidylinositol (GPI) is the predominant structure that Trypanosoma cruzi uses to anchor proteins on its surface, many of them essential for the virulence of the parasite or its escape from the host immune ...
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
(American Society of Human Genetics by Elsevier Inc., 2020-01)
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have ...
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
(2020)
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have ...
CYP1A1 *2B and *4 polymorphisms are associated with lung cancer susceptibility in Mexican patients
(2013)
We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic ...
Analysis of complex structural variants in the DMD gene in one family
(Pergamon-Elsevier Science Ltd, 2021-03)
This work describes a family with Duchenne Muscular Dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary ...
Atypical copy number abnormalities in 22q11.2 region: Report of three cases
(Elsevier Science BvAmsterdamHolanda, 2013)