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Clinical Medicine x Clinical Cytogenetics and Molecular Genetics x clear all

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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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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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Genomic Architecture and Copy Number Changes

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 6549 words.

This chapter discusses genomic architecture and copy number changes, including the role of genome architecture changes in evolution, generation of novel gene families through segmental...

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Linkage, Association, and Linkage Disequilibrium

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 4572 words.

This chapter covers the identification of genes and allelic varients that are responsible for specific phenotypes, and range of genetic variation, variants and phenotypes. Also covered are...

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Mitochondria

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 8658 words.

Through pioneering studies in the 1960s and 1970s by A. Lehninger (1979), E. Racker (1975), and by 1997 Nobel laureates J. Walker and P. Boyer, we gained insight into the key role of...

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Molecular Analyses of Malformation Syndromes

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 2739 words.

CHARGE Syndrome represents an example of a condition with a wide range of phenotypic abnormalities caused by defects in one gene that encodes a protein that regulates the expression of a...

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Multiple Pathways including Environmental Factors that Lead to a Specific Phenotype with Later Onset

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 2526 words.

This chapters looks first at Parkinson's Disease, the characteristic feature of which is degeneration of dopaminergic neurons in the substantia nigra. Degeneration of other neurons,...

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Neurobehavioral Disorders

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 6206 words.

This chapter addresses transformative approaches to the pathophysiology of psychiatric diseases, neuroimaging studies, developmental pathways and schizophrenia, functional neuroimaging in...

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Neurodevelopment and Functional Genomics

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 7976 words.

Key breakthroughs in analysis of neurophysiological processes include the capacity to analyze gene knockouts and gene mutants (most often in mice), and the ability to silence gene...

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Phenotype and Functional Genomics

Moyra Smith.

in Phenotypic Variation

February 2011; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Clinical Cytogenetics and Molecular Genetics. 3868 words.

The goal of functional genomics is to gain insight into mechanisms through which specific changes in genome transcripts and regulation induce changes in proteins, pathways, organelles,...

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