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Deletion 22q11.2: Report of a complex meiotic mechanism of origin
(Wiley-Blackwell, 2007-08-01)
We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markets flanking the deleted region, demonstrated a complex mechanism of origin of ...
Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation
(ELSEVIER SCIENCE BV, 2010)
Deletion of the long arm of chromosome 18 is one of the most common segmental aneusomies compatible with life and usually involves a deletion of the terminal chromosomal region. However, the mechanisms implicated in the ...
Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation
(Elsevier B.V., 2010-11-01)
Deletion of the long arm of chromosome 18 is one of the most common segmental aneusomies compatible with life and usually involves a deletion of the terminal chromosomal region. However, the mechanisms implicated in the ...
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
(Human Genetics, 2017-10-01)
Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. ...
dfrA thyA Double Deletion in para-Aminosalicylic Acid-Resistant Mycobacterium tuberculosis Beijing Strains
(American Society for Microbiology, 2016)
Para-Aminosalicylic acid (PAS) is a group 4 antituberculosis agent. It targets folate metabolism as shown in Fig. S1 in the supplemental material, which also summarizes the known mechanisms of resistance to this prodrug. ...
Roles of the mitochondrial replisome in mitochondrial DNA deletion formation
(Soc Brasil Genetica, 2020-01-01)
Mitochondrial DNA (mtDNA) deletions are a common cause of human mitochondrial diseases. Mutations in the genes encoding components of the mitochondrial replisome, such as DNA polymerase gamma (Pol gamma) and the mtDNA ...
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
(Nature, 2017)
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. ...