نتایج جستجو برای: dysgenesis

تعداد نتایج: 2586  

Journal: :Annals of Pediatric Surgery 2023

Abstract Background Y-type urethral duplication is a term frequently used to describe rare condition in the male associated with double urinary stream: weak interrupted stream through hypoplastic penile urethra, while main urine flow anus/perineum via accessory posterior channel. Fortunately, advent of MRI has provided powerful tool study these anomalies depth and on multiple planes. The includ...

Journal: :acta medica iranica 0
p. mehdipour a.r. karimi mm. bastanhagh

perrault's syndrome (p.s.) is rare. the combination of gonadal dysgenesis and hearing loss was accompanied by 46,xxkaryotype in three sisters with parental consanguineous marriage. genetic investigation revealed normal female karyotype, positive liarr and negative fluorescence ipj-bodies, which was confirmed by molecular study on the basis of fluorescence in situ hybridization (pish), with appl...

Journal: :International Journal of Cardiovascular Sciences 2021

Swyer syndrome is one of the disorders sexual differentiation. Previous studies have demonstrated increased sympathetic activity with heart rate variability (HRV) analysis decreasing estradiol levels. One patient presented a pure 46, XY gonadal dysgenesis female phenotype. Cardiac autonomic modulation was assessed through HRV while at rest. This research analyzed linear and nonlinear indexes. s...

Journal: :American journal of physiology. Renal physiology 2005
Hao Fan Jessica R Harrell Susana Dipp Zubaida Saifudeen Samir S El-Dahr

Gene-environment interactions are implicated in congenital human disorders. Accordingly, there is a pressing need to develop animal models of human disease, which are the product of defined gene-environment interactions. Previously, our laboratory demonstrated that gestational salt stress of bradykinin B(2) receptor (B(2)R)-null mice induces renal dysgenesis and early death of the offspring. In...

Journal: :Genetics 1977
M G Kidwell J F Kidwell J A Sved

A syndrome of associated aberrant traits is described in Drosophila melanogaster. Six of these traits, mutation, sterility, male recombination, transmission ratio distortion, chromosomal aberrations and local increases in female recombination, have previously been reported. A seventh trait, nondisjunction, is described for the first time. All of the traits we have examined are found nonreciproc...

2018
Karen M Rothacker Katie L Ayers Dave Tang Kiranjit Joshi Jocelyn A van den Bergen Gorjana Robevska Naeem Samnakay Lakshmi Nagarajan Kate Francis Andrew H Sinclair Catherine S Choong

Background Desert hedgehog (DHH) mutations have been described in only a limited number of individuals with 46, XY disorders of sex development (DSD) presenting as either partial or complete gonadal dysgenesis. Gonadal tumours and peripheral neuropathy have been associated with DHH mutations. Herein we report a novel, homozygous mutation of DHH identified through a targeted, massively parallel ...

Journal: :Genetics 1985
M G Kidwell

The genetic determination of the control of resistance or susceptibility to germ line changes mediated by P elements was studied in two strains and in derivatives of crosses between them. One strain, characterized as true M, completely lacked P elements. The second strain, pseudo-M (M'), carried a number of P elements, but these did not have the potential to induce the gonadal sterility that is...

Journal: :Genetics 1993
K E Rasmusson J D Raymond M J Simmons

Individual P elements that were genetically isolated from wild-type strains were tested for their abilities to repress two aspects of hybrid dysgenesis: gonadal dysgenesis and mutability of a double-P element-insertion allele of the singed locus (snw). These elements were also characterized by Southern blotting, polymerase chain reaction amplification and DNA sequencing. Three of the elements w...

Journal: :Journal of Evolution of Medical and Dental Sciences 2015

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