Arthrogryposis

Known as: Arthrogryposis Multiplex Congenita, Arthrogryposes, Congenital Multiple, Guérin-Stern Syndrome 
A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.
National Institutes of Health

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AMCN geneARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURESARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSYArthrogryposis multiplex congenita, distal, X-linked
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ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIAARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder)ARTHROGRYPOSIS, DISTAL, TYPE 1ARTHROGRYPOSIS, DISTAL, TYPE 10
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Papers overview

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Highly Cited
2009
Highly Cited
2009
Targeted capture and massively parallel sequencing of 12 human exomes
Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common… (More)
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Highly Cited
2007
Highly Cited
2007
Update to the multiplex PCR strategy for assignment of mec element types in Staphylococcus aureus.
Staphylococcal cassette chromosome mec (SCCmec) typing is important for the identification and definition of methicillin… (More)
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Highly Cited
2006
Highly Cited
2006
Multiplex PCR for rapid detection of genes encoding CTX-M extended-spectrum (beta)-lactamases.
 
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Highly Cited
2005
Highly Cited
2005
Novel multiplex PCR assay for characterization and concomitant subtyping of staphylococcal cassette chromosome mec types I to V in methicillin-resistant Staphylococcus aureus.
Staphylococcal cassette chromosome mec (SCCmec) typing is essential for understanding the molecular epidemiology of methicillin… (More)
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Highly Cited
2004
Highly Cited
2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex… (More)
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Highly Cited
2002
Highly Cited
2002
Multiplex PCR strategy for rapid identification of structural types and variants of the mec element in methicillin-resistant Staphylococcus aureus.
Full characterization of methicillin-resistant Staphylococcus aureus (MRSA) requires definition of not only the bacterial genetic… (More)
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Highly Cited
2002
Highly Cited
2002
Detection of plasmid-mediated AmpC beta-lactamase genes in clinical isolates by using multiplex PCR.
Therapeutic options for infections caused by gram-negative organisms expressing plasmid-mediated AmpC beta-lactamases are limited… (More)
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Highly Cited
2001
Highly Cited
2001
Differentiation of Lactobacillus plantarum, L. pentosus, and L. paraplantarum by recA gene sequence analysis and multiplex PCR assay with recA gene-derived primers.
In this study, we succeeded in differentiating Lactobacillus plantarum, Lactobacillus pentosus, and Lactobacillus paraplantarum… (More)
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Highly Cited
1997
Highly Cited
1997
Multiplex PCR: critical parameters and step-by-step protocol.
By simultaneously amplifying more than one locus in the same reaction, multiplex PCR is becoming a rapid and convenient screening… (More)
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Highly Cited
1973
Highly Cited
1973
Automatic Linguistic Indexing of Pictures by a Statistical Modeling Approach
Abstract Automatic linguistic indexing of pictures is an important but highly challenging problem for researchers in content… (More)
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