نتایج جستجو برای: dreifuss

تعداد نتایج: 967  

1998
Bryan Carpenter

This report is substantially based on the contents of a proposal to submitted to the National Science Foundation, in response to Advanced Computational Infrastructure and Research Programs, New Technologies

Journal: :Revista de biologia tropical 2016
Carlos I Molina Kenneth P Puliafico

The mayflies of the temperate and cold zones have well-synchronized life cycles, distinct cohorts, short emergence and flight periods. In contrast, aquatic insects from the tropical zones are characterized by multivoltine life cycles, “non-discernible cohorts” and extended flight periods throughout the year. This report is the first observation of life cycle patterns made of two species of mayf...

Journal: :The Journal of experimental biology 2015
Margaret J McFall-Ngai

The new technology of next-generation sequencing is changing our perceptions of the form and function of the biological world. The emerging data reveal an array of microbes that is more vast and more central to all biological processes than previously appreciated. Further, evidence is accumulating that the alliances of microbes with one another and with constituents of the macrobiological world...

Journal: :Human molecular genetics 1997
L Cartegni M R di Barletta R Barresi S Squarzoni P Sabatelli N Maraldi M Mora C Di Blasi F Cornelio L Merlini A Villa F Cobianchi D Toniolo

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting and weakness and cardiomyopathy presenting with arrhythmia and atrial paralysis: heart block can eventually lead to sudden death. The EDMD geneencodes a novel ubiquitous protein, emerin, which deco...

2005
Isil Ozkocak Yetkin Ozer Hanife Altunkaya Cengiz Bekir Demirel Varim Numanoglu

A 13-year-old girl with known Emery-Dreifuss Muscular Dystrophy (EDMD) admitted to the emergency service and diagnosed as appendicitis. On physical examination, contractures of her elbows, Achilles tendons and posterior cervical muscles were noticed. She showed muscular wasting. Preoperative airway examination revealed a difficulty for endotracheal intubation. Following the induction with fenta...

Journal: :Human molecular genetics 1998
S Manilal D Recan C A Sewry M Hoeltzenbein S Llense F Leturcq N Deburgrave J Barbot N Man F Muntoni M Wehnert J Kaplan G E Morris

Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twelve of the 14 emerin mutations caused early termination of translation. An in-frame deletion of six amino acids from the C-terminal transmembrane he...

Journal: :Journal of medical genetics 1997
A Fryer C Smith L Rosenbloom T Cole

Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.

Journal: :Physical review. E, Statistical, nonlinear, and soft matter physics 2008
D Dalmazi F L Sá

In ferromagnetic spin models above the critical temperature (T>T_{cr}) the partition function zeros accumulate at complex values of the magnetic field (H_{E}) with a universal behavior for the density of zeros rho(H) approximately mid R:H-H_{E}mid R:;{sigma} . The critical exponent sigma is believed to be universal at each space dimension and it is related to the magnetic scaling exponent y_{h}...

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