نتایج جستجو برای: subtelomeric translocation

تعداد نتایج: 47725  

2013
Farkhondeh Behjati Saghar Ghasemi Firouzabadi Firoozeh Sajedi Kimia Kahrizi Mostafa Najafi Behruz Ebrahimizade Ghasemlou Yousef Shafeghati Fatemeh Behnia Ali Reza Mohammadi Arya Hossein Karimi Fatemeh Hadipour Zahra Hadipour Peyman Jamali Roxana Kariminejad Hossein Darvish Ideh Bahman Eiman Bagherizadeh Hossein Najmabadi Roshanak Vameghi

BACKGROUND Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age. OBJECTIVES The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Techn...

2013
Manon M. S. Richard Nicolas W. G. Chen Vincent Thareau Stéphanie Pflieger Sophie Blanchet Andrea Pedrosa-Harand Aiko Iwata Carolina Chavarro Scott A. Jackson Valérie Geffroy

Subtelomeric regions in eukaryotic organisms are known for harboring species-specific tandemly repeated satellite sequences. However, studies on the molecular organization and evolution of subtelomeric repeats are scarce, especially in plants. Khipu is a satellite DNA of 528-bp repeat unit, specific of the Phaseolus genus, with a subtelomeric distribution in common bean, P. vulgaris. To investi...

Journal: :IEEE/ACM Transactions on Computational Biology and Bioinformatics 2019

Journal: :surgery and trauma 0
sajjad noorshafiee endoscopic and minimally invasive surgery research center, mashhad university of medical sciences, mashhad, iran ghodratollah maddah endoscopic and minimally invasive surgery research center, mashhad university of medical sciences, mashhad, iran kiarash ghazvini department of microbiology and virology, faculty of medicine, mashhad university of medical sciences, mashhad, iran saeed niazmand cardiovascular research center, department of physiology, faculty of medicine, mashhad university of medical sciences, mashhad, iran monavvar afzal aghaee surgical oncology research center, mashhad university of medical sciences, mashhad, iran samaneh sajadi surgical oncology research center, mashhad university of medical sciences, mashhad, iran

introduction: bacterial translocation is defined as the passage of bacteria from intestinal tract to the extraintestinal organs such as the peritoneum and blood circulation. the aim of this study is to examine bacterial translocation (regarding type of bacteria and effect of time of obstruction on bacterial translocation) from intestinal lumen to the peritoneum and viscera in acute, simple mech...

Journal: :Journal of medical genetics 2002
C D M van Karnebeek C Koevoets S Sluijter E K Bijlsma D F M C Smeets E J Redeker R C M Hennekam J M N Hoovers

OBJECTIVE The frequency of subtelomeric rearrangements in patients with unexplained mental retardation (MR) is uncertain, as most studies have been retrospective and case retrieval may have been biased towards cases more likely to have a chromosome anomaly. To ascertain the frequency of cytogenetic anomalies, including subtelomeric rearrangements, we prospectively screened a consecutive cohort ...

2012
Stephanie Kueng Monika Tsai-Pflugfelder Mariano Oppikofer Helder C. Ferreira Emma Roberts Chinyen Tsai Tim-Christoph Roloff Ragna Sack Susan M. Gasser

Silent information regulator proteins Sir2, Sir3, and Sir4 form a heterotrimeric complex that represses transcription at subtelomeric regions and homothallic mating type (HM) loci in budding yeast. We have performed a detailed biochemical and genetic analysis of the largest Sir protein, Sir4. The N-terminal half of Sir4 is dispensable for SIR-mediated repression of HM loci in vivo, except in st...

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