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61.
Associations between neurodevelopmental genes,neuroanatomy, and ultra high risk symptoms of psychosis in 22q11.2 deletion syndrome 下载免费PDF全文
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Pharyngolaryngectomy and voice restoration 总被引:2,自引:0,他引:2
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Carbamyl phosphate synthase deficiency (CPS) is a rare urea cycle defect. We present a case of a 41-year-old woman diagnosed with CPS deficiency during pregnancy. She is the oldest CPS-deficient patient, at diagnosis, reported to date and the first to be diagnosed during pregnancy. This case highlights the need for consideration of inborn errors of metabolism in adults presenting with unusual neurological and psychiatric conditions. 相似文献
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Jack L. Gluckman John J. McDonough Gerard J. McCafferty Robert J. Black William B. Coman Timothy C. Cooney Russell J. Bird David W. Robinson 《Head & neck》1985,7(3):200-205
Fifty-two patients who underwent reconstruction of the pharynx and esophagus using the free jejunal graft were retrospectively reviewed. The complications were categorized into those associated with the resection, those associated with the harvesting of the graft, and those related to the reconstruction per se. In this series, the graft failure rate was 7.6% with an overall success rate of 90.3%. Graft necrosis was found to be the most serious complication occurring in four patients. Methods of detection of graft necrosis and management of these complications are discussed. 相似文献
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Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 总被引:56,自引:0,他引:56
Vogt PH; Edelmann A; Kirsch S; Henegariu O; Hirschmann P; Kiesewetter F; Kohn FM; Schill WB; Farah S; Ramos C; Hartmann M; Hartschuh W; Meschede D; Behre HM; Castel A; Nieschlag E; Weidner W; Grone HJ; Jung A; Engel W; Haidl G 《Human molecular genetics》1996,5(7):933-943
In a large collaborative screening project, 370 men with idiopathic
azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA
loci in Yq11. In 12 individuals, we observed de novo microdeletions
involving several DNA loci, while an additional patient had an inherited
deletion. They were mapped to three different subregions in Yq11. One
subregion coincides to the AZF region defined recently in distal Yq11. The
second and third subregion were mapped proximal to it, in proximal and
middle Yq11, respectively. The different deletions observed were not
overlapping but the extension of the deleted Y DNA in each subregion was
similar in each patient analysed. In testis tissue sections, disruption of
spermatogenesis was shown to be at the same phase when the microdeletion
occurred in the same Yq11 subregion but at a different phase when the
microdeletion occurred in a different Yq11 subregion. Therefore, we propose
the presence of not one but three spermatogenesis loci in Yq11 and that
each locus is active during a different phase of male germ cell
development. As the most severe phenotype after deletion of each locus is
azoospermia, we designated them as: AZFa, AZFb and AZFc. Their probable
phase of function in human spermatogenesis and candidate genes involved
will be discussed.
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