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Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss
(Elsevier MassonIssy les Moulineaux, 2014-03)
In 20% of cases, hereditary non-syndromic hearing loss has an autosomal dominant inheritance (ADNSHL). To date, more than 50 loci for ADNSHL have been mapped to different chromosomal regions. In order to verify whether ...
Influence Assessment in an Heteroscedastic Errors-in-Variables Model
(Taylor and Francis Group, LLCPhiladelphia, 2012)
The main goal of this article is to consider influence assessment in models with error-prone observations and variances of the measurement errors changing across observations. The techniques enable to identify potential ...
Influence Assessment in an Heteroscedastic Errors-in-Variables Model
(TAYLOR & FRANCIS INC, 2012)
The main goal of this article is to consider influence assessment in models with error-prone observations and variances of the measurement errors changing across observations. The techniques enable to identify potential ...
Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography
(SPRINGER, 2010)
Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. In fetuses with a heart defect, chromosomal abnormalities are very frequent. Besides aneuploidy, ...
Aneuploidies, deletion, and overexpression of TP53 gene in intestinal metaplasia of patients without gastric cancer
(Elsevier B.V., 2004-09-01)
Gastric carcinogenesis is attributable to interacting environmental and genetic factors, through a sequence of events including intestinal metaplasia. Using a fluorescence in situ hybridization technique, we investigated ...
Aneuploidies, deletion, and overexpression of TP53 gene in intestinal metaplasia of patients without gastric cancer
(Elsevier B.V., 2004-09-01)
Gastric carcinogenesis is attributable to interacting environmental and genetic factors, through a sequence of events including intestinal metaplasia. Using a fluorescence in situ hybridization technique, we investigated ...
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients
(Funpec-editora, 2011-01-01)
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% ...
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients
(Funpec-editora, 2011-01-01)
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% ...
AZFc partial deletions in Chilean men with severe spermatogenic failure
(2007)
Objective: To determine the prevalence of AZFc subdeletions in infertile Chilean men with severe spermatogenic impairment. Design: Prospective analysis. Setting: University infertility clinic. Patient(s): Ninety-five ...
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
(Sociedade Brasileira de Genética, 2014)