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Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
(Polish Academy of Sciences with Springer International Publishing AG,, 2016)
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but ...
Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
(Springer, 2016)
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such
as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently
available to detect SR, but ...
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
(Wiley, 2021)
Background: We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population.Methods: ...
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification
(Informa Healthcare, 2015-06)
The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, ...
Microdeletion and microduplication syndromes
(Histochemical Society, 2014)
Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
(Taylor & Francis Ltd, 2019-01-12)
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents 10–20% of LS. ...
Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1
(WILEY-BLACKWELL PUBLISHING, INC, 2010)
P>Objective Congenital hypogonadotropic hypogonadism with anosmia (Kallmann syndrome) or with normal sense of smell is a heterogeneous genetic disorder caused by defects in the synthesis, secretion and action of ...
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
(B M J PUBLISHING GROUP, 2008)
We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods ...
Allelic status of 1p and 19q in oligodendrogliomas and glioblastomas: multiplex ligation-dependent probe amplification versus loss of heterozygosity
(ELSEVIER SCIENCE INC, 2009)
Identification of the 1p/19q allelic status in gliomas, primarily those with a major oligodendroglial component, has become an excellent molecular complement to tumor histology in order to identify those cases sensitive ...
Genotype–phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina
(Elsevier, 2016-11)
Background/Purpose: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, considered one of the leading causes of infant mortality. It is caused by mutations in the SMN1 gene. A highly homologous ...