نتایج جستجو برای: q42

تعداد نتایج: 110  

2010
Afzal Siddiqui Stein-Erik Fleten

Article history: Received 29 July 2008 Received in revised form 15 December 2009 Accepted 17 December 2009 Available online xxxx JEL classification: D81 Q42

Journal: :The Journal of clinical investigation 1997
B P Tsao R M Cantor K C Kalunian C J Chen H Badsha R Singh D J Wallace R C Kitridou S L Chen N Shen Y W Song D A Isenberg C L Yu B H Hahn J I Rotter

Genetic susceptibility confers significant risk for systemic lupus erythematosus (SLE). The MHC region and other polymorphic loci have been associated with SLE. Because more compelling evidence for an involvement of a genetic locus includes linkage, we tested a candidate region homologous to a murine SLE susceptibility region in 52 SLE-affected sibpairs from three ethnic groups. We analyzed sev...

Journal: :Biomedical and environmental sciences : BES 2010
Yun Wang Xin Li Wen-Li Zhu Jin-Zhen Guo Xiao-Ming Song Shu-Qin Li Yong Li

OBJECTIVES To identify the loci involved in nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Northern Chinese people in Shenyang by using genomewide and interaction linkage scan. METHODS Two multiplex families in Shenyang from North China were ascertained through probands with NSCL/P. Blood of every member was drawn for DNA extraction and analysis. Genotypes were available for ...

Journal: :Journal of medical genetics 2002
M M van Haelst H J F M M Eussen F Visscher J L M de Ruijter S L S Drop D Lindhout C H Wouters L C P Govaerts

Partial duplication of the long arm of chromosome 1 has been described in more than 200 patients. In most of these cases, the duplication is the result of an unbalanced segregation of a parental balanced translocation. Patients with duplications of 1q are therefore monosomic for the other chromosomal material involved in the translocation. The phenotypic result of such chromosomal abnormalities...

2005
Paul Twomey Karsten Neuhoff

It is difficult to eliminate all market power in electricity markets and it is therefore frequently suggested that some market power should be tolerated: extra revenues contribute to fixed cost recovery, facilitate investment, and increase security of supply. This suggestion implicitly assumes all generation technologies benefit equally from market power. We assess a mixture of conventional and...

Journal: :Human molecular genetics 2008
Gilles Maussion Jérôme Carayol Aude-Marie Lepagnol-Bestel Frédéric Tores Yann Loe-Mie Ulla Milbreta Francis Rousseau Karine Fontaine Julie Renaud Jean-Marie Moalic Anne Philippi Alain Chedotal Philip Gorwood Nicolas Ramoz Jörg Hager Michel Simonneau

Autism spectrum disorders (ASDs) are common, heritable, but genetically heterogeneous neurodevelopmental conditions. We recently defined a susceptibility locus for ASDs on chromosome 1q41-q42. High-resolution single-nucleotide polymorphisms (126 SNPs) genotyping across the chromosome 1q41-q42 region, followed by a MARK1 (microtubule affinity-regulating kinase 1)-tagged-SNP association study in ...

2014
Carmen Dionne Suzie McKinnon Jane Squires Jantina Clifford

BACKGROUND The need for early intervention tools adapted to the First Nation culture is well documented. However, standards derived from First Nation communities are absent from the literature. This study examines the psychometric properties of an adaptation of a caregiver-completed screening tool, the Ages & Stages Questionnaires (ASQ), for the Mohawk population. METHODS Participants who com...

2003
Pauli Murto Gjermund Nese

We consider energy investment, when a choice has to be made between fossil fuel and biomass fired production technologies. A dynamic model is presented to illustrate the effect of the different degrees of input price uncertainty on the choice of technology and the timing of the investment. It is shown that when the choice of technology is irreversible, it may be optimal to postpone the investme...

Journal: :Cell 2013
Rita Guerreiro José Brás John Hardy

Gene offi cial symbol Gene name Location Possible pathways / pathological biological processes MenDeLIAn Genes APP Amyloid β (A4) precursor protein 21q21.3 Damage response?/Amyloid cascade PSEN1 Presenilin 1 14q24.3 Regulation of APP processing (amyloid cascade); cleavage of APP, the Notch receptor, and other transmembrane proteins PSEN2 Presenilin 2 1q31-q42 Regulation of APP processing (amylo...

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