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Angeliki?Balasopoulou Biljana?Stankovi? Angeliki?Panagiotara Gordana?Nik?evic Brock?A.?Peters Anne?John Effrosyni?Mendrinou Apostolos?Stratopoulos Aigli?Ioanna?Legaki Vasiliki?Stathakopoulou Aristoniki?Tsolia Nikolaos?Govaris Sofia?Govari Zoi?Zagoriti Konstantinos?Poulas Maria?Kanariou Nikki?Constantinidou Maro?Krini Kleopatra?Spanou Nedeljko?Radlovic Bassam?R.?Ali Joseph?Borg Radoje?Drmanac George?Chrousos Sonja?Pavlovic Eleftheria?Roma Branka?Zukic George?P.?Patrinos Theodora?KatsilaEmail author 《Human genomics》2016,10(1):34
Background
Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, the pathobiology of the disease is unclear, perplexing differential diagnosis, patient stratification, and decision-making in the clinic.Methods
Herein, we adopted a next-generation sequencing approach in a celiac disease trio of Greek descent to identify all genomic variants with the potential of celiac disease predisposition.Results
Analysis revealed six genomic variants of prime interest: SLC9A4 c.1919G>A, KIAA1109 c.2933T>C and c.4268_4269delCCinsTA, HoxB6 c.668C>A, HoxD12 c.418G>A, and NCK2 c.745_746delAAinsG, from which NCK2 c.745_746delAAinsG is novel. Data validation in pediatric celiac disease patients of Greek (n?=?109) and Serbian (n?=?73) descent and their healthy counterparts (n?=?111 and n?=?32, respectively) indicated that HoxD12 c.418G>A is more prevalent in celiac disease patients in the Serbian population (P?<?0.01), while NCK2 c.745_746delAAinsG is less prevalent in celiac disease patients rather than healthy individuals of Greek descent (P?=?0.03). SLC9A4 c.1919G>A and KIAA1109 c.2933T>C and c.4268_4269delCCinsTA were more abundant in patients; nevertheless, they failed to show statistical significance.Conclusions
The next-generation sequencing-based family genomics approach described herein may serve as a paradigm towards the identification of novel functional variants with the aim of understanding complex disease pathobiology.4.
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This report describes the technique of neuroleptic analgesia which was used to perform a variety of stereotactic procedures. The method provides optimal operating conditions for the surgeon while maintaining a high degree of physiologic and neurologic stability for the patient. 51 patients in our series underwent various stereotactic procedures with no intraoperative complications or postoperative morbidity. 相似文献
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