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12篇 您的检索式:作者名="Boito"
    题名 作者 年代 出处 被引量
1LGMD2E patients risk developing dilated eardiomyopathy 显示文摘FANIN M MELACINI P BOITO C 2003Neuromuscul Disord2003,13,4:1
2Umbilical venous volume flow in the normally developing and growth-restricted human fetus显示文摘Boito S Struijk PC Ursem NT Stijnen T Wladimiroff JW 0,,04:1
3Infectivity in natural populations of Delphacodes kuscheli vector of Mal Rfo Cuarto virus 显示文摘Omaghi J A Mmarch G J Boito G T 1999Maydica1999,44,3:1
4The Euclidean algorithm显示文摘Boito P 2009Structured Matrix Based Methods for Approa:imate Polynomial2009,15,1:1
5Denial of fear of dying or of death in young and elderly populations 显示文摘Westman AS Canter FM Boitos TM 1984Psychol Rep1984,55,2:1
6Electrovaporization of prostate with the gyrus device显示文摘BOITO H LEBRET T BARRE P 2001J Endourol2001,15,:1
7Asscssment of fetal liver volume and umbilical venous volume flow in pregnancies complicated by insulin-dependent diabetes mellitus显示文摘Boito SM Struijk PC Ursem NT 2003Br J Obstet Gynaecol2003,110,11:1
8Assessment of fetal liver volume and umbilical venous volume flow in pregnancies complicated by insulin-dependent diabetes mellitus显示文摘Boito SM Struijk PC Ursem NT 2003Br J Obstet Gynaecol2003,110,11:1
9LGMD2E patients risk developing dilated cardiomyopathy显示文摘Fanin F Melacini P Boito C 2003Neuromuscul Disord2003,13,:1
10Crosslinked poly (vinyl alcohol) membranes 显示文摘BOITO B TRAN T HOANG M et 2009Progress in Polymer Sci- ence2009,34,9:1
112Ⅰ型肢带型肌营养不良患者的临床和分子特征显示文摘Background: Limb-girdle muscular dystrophy type 2I is caused by mutations in the fukutin-related protein gene (FKRP). FKRP encodes a putative glycosyltransferase protein that is involved in α-dystroglycan glycosylation. Objectives: To identify patients with limb-girdle muscular dystrophy type 2I and to derive genotype-phenotype correlations. Design: Two hundred fourteen patients who showed muscle histopathologic features consistent with muscular dystrophy or myopathy of unknown etiology were studied. The entire 1.5-kilobase FKRP coding sequence from patient DNA was analyzed using denaturing high-performance liquid chromatography of overlapping polymerase chain reaction products, followed by direct sequencing of heteroduplexes. Results: Thirteen patients with limb-girdle muscular dystrophy type 2I (6%of all patients tested) were identified by FKRP muta tion analysis, and 7 additional patients were identified by family screening. Six missense mutations (1 novel) were identified. The 826C >A nucleotide change was a common mutation, present in 35%of the mutated chromosomes. Clinical presentations included asymptomatic hyperCKemia, severe early-onset muscular dystrophy, and mild late-onset muscular dystrophy. Dilated cardiomyopathy and ventilatory impairment were frequent features. Significant intrafamilial and interfamilial clinical variability was observed. Conclusions: FKRP mutations are a frequent cause of limb-girdle muscular dystrophies. The degree of respiratory and cardiac insufficiency in patients did not correlate with the severity of muscle involve ment. The finding of 2 asymptomatic patients with FKRP mutations suggests that modulating factors may ameliorate the clinical phenotype.Boito C.A. Melacini P. Vianello A. E. Pegoraro 方伯言 2006世界核心医学期刊文摘(神经病学分册)2006,2,6:0
12Diffusivity-limited q-space trajectory imaging显示文摘Q-space trajectory imaging(QTI)allows non-invasive estimation of microstructural features of heterogeneous porous media via diffusion magnetic resonance imaging performed with generalised gradient waveforms.A recently proposed constrained estimation framework,called QTI+,improved QTI's resilience to noise and data sparsity,thus increasing the reliability of the method by enforcing relevant positivity constraints.In this work we consider expanding the set of constraints to be applied during the fitting of the QTI model.We show that the additional conditions,which introduce an upper bound on the diffusivity values,further improve the retrieved parameters on a publicly available human brain dataset as well as on data acquired from healthy volunteers using a scanner-ready protocol.Deneb Boito Magnus Herberthson Tom Dela Haije Ida Blystad Evren Ozarslan 2023Magnetic Resonance Letters2023,3,2:0
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