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Pathology x Clinical Genetics x clear all

Amyotrophic Lateral Sclerosis and the Frontotemporal Dementias

Edited by Michael J. Strong.

October 2012; p ublished online November 2012 .

Book. Subjects: Neurology; Pathology; Clinical Genetics. 432 pages.

This resource summarizes the advances in our understanding of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), as well as the potential relationship between the two.

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Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes

A. Simon, J. W. M. van der Meer, R. Veselý, U. Myrdal, K. Yoshimura, P. Duys and J. P. H. Drenth.

in Rheumatology

March 2006; p ublished online November 2005 .

Journal Article. Subjects: Clinical Genetics; Immunology. 3152 words.

Objective. Hereditary autoinflammatory syndromes are characterized by recurrent episodes of fever and inflammation. Seven subtypes have been described, caused by mutations in...

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An argument for early genomic sequencing in atypical cases: a <i>WISP3</i> variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood

Christopher A. Cassa, Stacy E. Smith, William Docken, Erin Hoffman, Heather McLaughlin, Sung Chun, Ignaty Leshchiner, Hichem Miraoui, Soumya Raychaudhuri, Natasha Y. Frank, Brian J. Wilson, Shamil R. Sunyaev, Richard L. Maas and Dana Vuzman.

in Rheumatology

March 2016; p ublished online October 2015 .

Journal Article. Subjects: Immunology; Clinical Genetics. 1251 words.

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Basic Sciences for Ophthalmology

Louise Bye, Neil Modi and Miles Stanford.

May 2013; p ublished online July 2013 .

Book. Subjects: Ophthalmology; Clinical Genetics; Pathology; Immunology. 288 pages.

Part of the Oxford Specialty Training series, Basic Sciences for Ophthalmology is an indispensable and fully comprehensive resource, and the only one that candidates will need to pass the...

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Disease activity accounts for long-term efficacy of IL-1 blockers in pyogenic sterile arthritis pyoderma gangrenosum and severe acne syndrome

Alessia Omenetti, Sonia Carta, Roberta Caorsi, Martina Finetti, Daniela Marotto, Bianca Lattanzi, Mauro Jorini, Laura Delfino, Federica Penco, Paolo Picco, Antonella Buoncompagni, Alberto Martini, Anna Rubartelli and Marco Gattorno.

in Rheumatology

July 2016; p ublished online March 2016 .

Journal Article. Subjects: Immunology; Clinical Genetics. 5441 words.

Objective. To provide a rationale for anti-IL-1 treatment in pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) by defining whether IL-1β secretion is enhanced;...

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Epilogue

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 681 words.

“The optimism of science is two-fold: that its methods might reveal, one tiny pixel at a time, more of the wonder of the natural world, and that this knowledge might be able to solve...

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Evidence for a differential association of the Arg200Trp single-nucleotide polymorphism in FRZB with hip osteoarthritis and osteoporosis

R. J. Lories, S. Boonen, J. Peeters, K. de Vlam and F. P. Luyten.

in Rheumatology

January 2006; p ublished online November 2005 .

Journal Article. Subjects: Clinical Genetics; Rheumatology; Immunology. 1357 words.

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Evolution

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 7008 words.

This chapter covers analyses of relatedness, mitochondrial DNA evolution and species barcodes, protein domains and domain structure, genome changes in evolution of humans and nonhuman...

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Gene, environment, microbiome and mucosal immune tolerance in rheumatoid arthritis

Anca I. Catrina, Kevin D. Deane and Jose U. Scher.

in Rheumatology

March 2016; p ublished online December 2014 .

Journal Article. Subjects: Rheumatology; Immunology; Clinical Genetics. 6643 words.

RA is a complex multifactorial chronic disease that transitions through several stages. Multiple studies now support that there is a prolonged phase in early RA development during which...

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Gene therapy as a therapeutic approach for the treatment of rheumatoid arthritis: innovative vectors and therapeutic genes

J. Adriaansen, M. J. B. M. Vervoordeldonk and P. P. Tak.

in Rheumatology

June 2006; p ublished online March 2006 .

Journal Article. Subjects: Clinical Genetics; Rheumatology; Immunology. 11649 words.

In recent years, significant progress has been made in the treatment of rheumatoid arthritis (RA). In addition to conventional therapy, novel biologicals targeting tumour necrosis...

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