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Phenotypic variability in isodicentric Y patients: study of nine cases
Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. As they are unstable during cell division and can generate various types of cell lines, most reportedExpand
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Short-term cyclosporine induces a remission of autoimmune hepatitis in children.
BACKGROUND/AIMS The current immunosuppressive treatment of patients with autoimmune hepatitis consists of prednisone and azathioprine. High doses of prednisone used to obtain the remission of theExpand
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Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease.
Eight infants presented with a malabsorption syndrome, normal fasting triglycerides, hypocholesterolemia (64.3 +/- 10.0 mg/dl), and deficiency of vitamins A and E. Plasma low-density lipoprotein,Expand
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Chylomicron retention disease: a long term study of two cohorts.
Lipoprotein assembly is critical for the intestinal absorption of dietary lipids and of fat-soluble vitamins. Through their inhibition of chylomicron secretion, mutations of the Sar1B gene coding forExpand
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Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes
Isodicentric chromosomes are among the structural abnormalities of the Y chromosome that are commonly identified in patients. The simultaneous 45,X cell line that is generated in cell division due toExpand
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Autoimmune Enteropathy
ABSTRACT Autoimmune enteropathy (AIE) is an entity reported primarily in infancy, resulting in intractable diarrhea and associated with small bowel villous atrophy and the presence of circulatingExpand
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Neuromuscular choristoma A clinicopathologic study of two cases
Neuromuscular choristoma, also known as benign “triton” tumor, is an uncommon peripheral nerve tumor usually occurring in early childhood. We report two cases, a 6-year-old girl with a solitary tumorExpand
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Esophageal leiomyoma in children: two case reports and review of the literature.
Leiomyoma of the esophagus is not uncommon in the adult population but is rarely seen in children; only 20 cases have been reported in the pediatric population. In this paper we describe two cases ofExpand
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Human papillomavirus (HPV) study of 691 pathological specimens from Quebec by PCR‐direct sequencing approach
Human papillomaviruses (HPV) are etiological agents of cervical cancer. In order to address clinical demand for HPV detection and sequence typing, mostly in pre‐cancerous cervical lesions, we appliedExpand
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Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis
Patients with XY gonadal dysgenesis are at increased risk of developing gonadal tumors. The etiology of several cases of XY gonadal dysgenesis remains unknown, but X/XY gonadal mosaicism has beenExpand
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