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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs‐on‐BeadsTM (PNBoBsTM) haveExpand
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Extragonadal germ cell tumors are often associated with Klinefelter syndrome.
Klinefelter syndrome is a well documented abnormality of sex differentiation, with an incidence of 1 in 600 newborn males. It is characterized by a 47,XXY or a mosaic karyotype and clinical findingsExpand
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A bioactive 60-kilodalton prolactin species is preferentially secreted in cultures of mitogen-stimulated and nonstimulated peripheral blood mononuclear cells from subjects with systemic lupus
We have evaluated the production of PRL by human peripheral mononuclear cells (PBMNC) from normal subjects and patients with systemic lupus erythematosus (SLE). Conditioned medium prepared from basalExpand
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Sex hormone-binding globulin stimulates chorionic gonadotrophin secretion from human cytotrophoblasts in culture.
The effects of sex hormone-binding globulin (SHBG) on the secretion of human chorionic gonadotrophin (HCG) and cAMP by cultured human cytotrophoblasts were investigated. Cytotrophoblasts obtainedExpand
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Intracranial germ cell tumors: association with Klinefelter syndrome and sex chromosome aneuploidies
Intracranial germ cell tumors (ICGCTs) occur mainly in male children and adolescents. Polyploidy of the X chromosome and X hypomethylation have been suggested as mechanisms of malignantExpand
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Physical Activity Protects Men but Not Women for Sarcopenia Development
Objective: Sarcopenia is among the most deleterious effects of aging. The objective of this study was to analyze the relationship between performance tests and muscular volume over the life span ofExpand
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The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics
Neonatal hypotonia is a relatively common cause of consultation in daily pediatric practice. It is part of the clinical presentation of a large group of heterogeneous diseases, many of which have anExpand
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Gender-specific differences in clinical and metabolic variables associated with NAFLD in a Mexican pediatric population.
INTRODUCTION AND AIM Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease in children and it is more prevalent in Hispanic males. The gender differences can be explained by bodyExpand
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45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism
Sex differentiation in humans depends on the presence of the Y‐linked gene SRY, which is activated in the pre‐Sertoli cells of the developing gonadal primordium to trigger testicular differentiation.Expand
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Aneusomy detection with Karyolite-Bac on Beads® is a cost-efficient and high throughput strategy in the molecular analyses of the early pregnancy conception losses
BackgroundApproximately 10–15 % of all clinically recognized pregnancies end in miscarriage, the majority of them occur during the first trimester, underlying the cause of the loss. Genetic analysisExpand
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