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Allelic losses at chromosome 8p21-23 are early and frequent events in the pathogenesis of lung cancer
(AMER ASSOC CANCER RESEARCH, 1999)
Allelic Losses on the short arm of chromosome 8 (8p) have been reported as frequent events in several cancers, including Lung. However, no comprehensive mapping analysis of chromosome 8p in Lung cancer tumors has been ...
Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups
(Springer, 2020)
Purpose To investigate the association of partial-AZFc deletions in Chilean men with primary spermatogenic failure and their testicular histopathological phenotypes, analyzing the contribution ofDAZdosage,CDY1copies, and ...
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
(2019)
Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies ...
A rare non-Robertsonian translocation involving chromosomes 15 and 21
(Associação Paulista de Medicina (APM), 2013)
CONTEXTO:Translocações robertsonianas (TR) estão entre os rearranjos estruturais balanceados mais comuns em humanos e compreendem a fusão da cromatina completa do braço longo de dois cromossomos acrocêntricos. No entanto, ...
Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men
(Associação Brasileira de Divulgação Científica, 2003-06-01)
We determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for ...
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
(Sociedade Brasileira de Cardiologia, 2020-2-3)
Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome ...
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
(2012-02-01)
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral ...
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
(2012-02-01)
Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral ...