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Y chromosome microdeletion prevalence in infertile Chilean men
(Elsevier, 2016)
Objective: The aim of this study is to determine the prevalence of Y chromosome microdeletions in infertile Chilean men. Material and methods: A group of 102 infertile men with azoospermia or severe oligozoospermia were ...
Absence of Y chromosome microdeletions in patients with cryptorchidism and hypospadias
(Freund Publishing House Ltd, 2004)
Microdeletions of the Y chromosome have been observed in some patients with cryptorchidism and severe defects of spermatogenesis. We investigated whether microdeletions of the Y chromosome may be present in patients with ...
Somatic and germ cell cytogenetic studies and AZF microdeletion screening in infertile men
(Soc Brasil GeneticaRibeirao PretBrasil, 2004)
Greater prevalence of Y chromosome Q1a3a haplogroup in Y-microdeleted Chilean men: a case–control study
(SPRINGER/PLENUM PUBLISHERS, 2013-02-08)
To determine the prevalence of South Amerindian Y chromosome in Chilean patients with spermatogenic failure and their association with classical and/or AZFc-partial Y chromosome deletions.
We studied 400 men, 218 with ...
Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease
Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and ...
Identification of a Microdeletion at the 7q33-q35 Disrupting the CNTNAP2 Gene in a Brazilian Stuttering Case
(Wiley-liss, 2010-12-01)
Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or ...
Identification of a Microdeletion at the 7q33-q35 Disrupting the CNTNAP2 Gene in a Brazilian Stuttering Case
(Wiley-liss, 2010-12-01)
Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or ...
Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1
(KARGER, 2009)
Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor ...