نتایج جستجو برای: hirschsprung
تعداد نتایج: 1258 فیلتر نتایج به سال:
A four month old male infant was referred to the pediatric clinic of Afshar Hospital in Yazd city because of cyanosis. On physical examination, patient had central cyanosis, single second heart sound, A grade III/VI continuous murmur in left clavicular area, abdominal distension and large sized smooth and movable abdominal mass in right upper quadrant of abdomen. Transthoracic echocardiograp...
Introduction: Constipation is one of the most common complaints of individuals, which may present with complication like hemorrhoid and fissure. Hirschsprung is a disease presenting with chronic constipation and its diagnosis may be delayed until adulthood. It is diagnosed by biopsies from anorectal transitional zone. This study aimed to evaluate the association between Hirschsprung and anorect...
The ability to discriminate between deleterious and neutral amino acid substitutions in the genes of patients remains a significant challenge in human genetics. The increasing availability of genomic sequence data from multiple vertebrate species allows inclusion of sequence conservation and physicochemical properties of residues to be used for functional prediction. In this study, the RET rece...
We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to...
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