Search Results - Geneva~

Next generation sequencing in genetic diagnostics

Table of Contents: “…Contents: Sanger sequencing -- Next generation sequencing (NGS) technologies -- Target enrichment -- Analysis of NGS data -- Neurogenetics -- Applications of NGS technology in genetics diagnostics (Dementia diagnostic panel, Parkinson's disease NGS diagnostic panel).…”
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Genetics of COPD

Table of Contents: “…Contents: COPD-important world-wide cause of morbidity and mortality -- Clear evidence of a genetic contribution to disease risk -- Genome wide association studies have identified genes predicting lung function -- Role of these genes in COPD pathophysiology.…”
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Integrated management of cardiovascular risk report of a WHO meeting, Geneva, 9-12, July 2002.

An electronic book accessible through the World Wide Web; click to view

Gene transfer and gene therapy

Table of Contents: “…Contents: Definition of gene therapy -- Requirements for successful gene therapy -- Vector systems with application for blood diseases -- Experience in clinical trials -- Insertional mutagenesis -- Prospects and new approaches.…”
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Genetic disorders and the fetus : diagnosis, prevention, and treatment /

Subjects: An electronic book accessible through the World Wide Web; click to view

Genetics of animal health

Table of Contents: “…Contents: Importance of genetic of animal health -- Heritability -- Phenotype as a function of genetics & environment -- Genetic gain -- Health traits -- Viral diseases -- Udder traits: genetic variation across species -- Lameness (cattle & sheep) -- Bacterial diseases -- Fertility traits (dairy cows) -- Metabolic diseases -- Parasites -- Genetic trends -- Somatic cell score -- Mastitis and other diseases -- Genetic correlations between traits -- Increase accuracy of selection -- Predictor traits -- Indirect selection -- New technologies (genomics and others) -- Genome wide association studies and enabled selection.…”
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How to manage dementia in general practice by Clarke, Nicholas, 1961-

An electronic book accessible through the World Wide Web; click to view

The troubled dream of genetic medicine ethnicity and innovation in Tay-Sachs, cystic fibrosis, and sickle cell disease / by Wailoo, Keith

Subjects: “…Genetic disorders Research Moral and ethical aspects.…”
An electronic book accessible through the World Wide Web; click to view

Genetic basis of neurological disease

Table of Contents: “…Contents: Neurogenetics -- Allele frequency vs. effect size -- Parkinson's disease (PD) -- PINK1: genetic discovery to protein expression -- Pink1 and mitochondrial abnormalities -- In vivo interaction between PINK1 and Parkin -- Parkinsonian proteins and mitophagy -- Mitochondrial dysfunction -- Protein aggregation -- Ceramide metabolism and PD -- Lysosomal pathway and PD -- Complex trait genetics -- Linkage disequilibrium blocks -- Identifying common genetic factors -- Genetic risk factors & odds of finding variants -- First genome-wide association study for PD -- Parkinson's disease molecular pathways -- Replicate meta-analysis -- The major neurological diseases -- Caveats to consider in GWAS -- The ENCODE study -- Trinucleotide repeats and related disorders -- The impact of next generation sequencing.…”
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Genetics of Hereditary Spastic Paraplegia

Table of Contents: “…Contents: Definition and overview of Hereditary spastic paraplegia (HSP) -- The motor system in HSP -- HSP pathophysiology HSP -- Heterogeneity of HSP -- Neuropathology in HSP -- Clinical features & classification -- Diagnosis and treatment -- Genetics: general features -- Timeline of HSP genetic discoveries -- Autosomal dominant and recessive inheritance & genes -- X-linked genes -- Pathogenic mechanisms.…”
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The genetic basis of kidney cancer

Table of Contents: “…Contents: Renal carcinoma -- Stage I , Stage IV Kidney Cancer -- Human renal epithelial neoplasms -- Loss of alleles in Renal Cell Carcinoma -- Mapping the minimal 3p loss region in Clear Cell Renal Carcinoma -- Studying cancer families to identify renal carcinoma genes -- Identification of kidney cancer genes -- Inherited forms of renal carcinoma -- Clear cell Renal Carcinoma: von Hippel Lindau (VHL) -- VHL gene -- VHL gene localization map -- Germline VHL mutations -- Papillary Renal Carcinoma -- Mouse studies of VHL gene -- VHL gene function -- HIFα -- Downstream effects of VHL mutation -- Targeting VHL/HIF in Clear Cell RCC -- TCGA Clear Cell Kidney Cancer -- Intratumor heterogeneity -- Warburg effect in Clear Cell Kidney Cancer -- Non-Clear Cell RCC -- Locally advanced Kidney Cancer -- Hereditary Papillary Renal Carcinoma (HPRC) -- Inherited Renal Carcinoma -- Type 1 Papillary Renal Carcinoma -- Penetrance of MET mutation H1210R -- MET gene: Type 1 Papillary RCC -- Location of the HPRC gene -- HPRC: Activating mutations in the Tyrosine Kinase domain of MET -- Location of MET mutations in the HPRC patients -- Targeting MET RCC gene pathway -- Potential small molecule target: MET Tyrosine Kinase inhibition -- Foretinib: Dual VEGFR and MET Inhibitor -- MiT Kidney Cancer TFE3, TFEB, MITF -- UOK124, Papillary Kidney Cancer -- UOK124, UOK120, UOK 146 & TFE3 Kidney Cancer -- Inherited Renal Carcinoma Birt-Hogg-Dubé (BHD) -- Birt Hogg Dubé cutaneous manifestations -- Kidney tumors in BHD -- BHD renal tumor pathology -- BHD lung cysts -- Identification of the BHD Gene -- Cutaneous Fibrofolliculomas -- BHD Gene: Chromophobe RCC -- BHD Gene Locus: Chromosome 17 -- BHD Protein Sequence -- FLCN Mutation Spectrum -- Therapeutic Approach: What Kind of Gene is FLCN? …”
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Series (Molecular genetics of human disease)
Series (Kidney in health and disease)

General and oral pathology for dental hygiene practice / by Myers, Sandra L., 1949-, Curran, Alice E.

An electronic book accessible through the World Wide Web; click to view

Functional insights from genetic channelopathies

Subjects: “…Epilepsy Genetic aspects. 103612…”
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Genetic methods in the study of neurological diseases the genetic basis of neurological disorders /

Table of Contents: “…Contents: Historical approaches to genetic studies -- Genome-Wide Genotyping -- Genome-Wide Association Studies -- Next-Generation Sequencing -- How we use novel technologies to understand the genetic architecture of disease.…”
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The genetics and genomics of familial renal carcinoma

Table of Contents: “…Contents: Genetic predisposition to Renal Cell Carcinoma (RCC) -- von Hippel-Lindau disease -- Birt-Hogg-Dube syndrome -- Hereditary Leiomyomatosis and RCC -- MET inhibitors in papillary RCC -- Familial RCC and constitutional translocations -- CDKN2B mutations in inherited RCC -- Non-syndromic inherited RCC -- Inherited RCC genes and mTOR pathway.…”
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Series (Cancer genetics)
Series (Kidney in health and disease)

Molecular basis of genetic renal diseases part 1 of 2 /

Table of Contents: “…Contents: Functions of the kidney -- Locations of mutations affecting renal function and homeostasis -- Genetically linked glomerular diseases.…”
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Molecular basis of genetic renal diseases part 2 of 2 /

Table of Contents: “…Contents: Genetically linked proximal tubular diseases -- Genetically linked thick ascending limb diseases -- Genetically linked distal tube & collecting duct diseases.…”
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Directed evolution of novel adeno-associated viral vectors for gene therapy

Table of Contents: “…Contents: Recent successes in gene therapy -- Problems in the field with naturally derived vectors -- Directed evolution as an approach to engineer optimal viral vector variants that meet clinical needs -- Examples: development of variants to evade neutralizing antibodies and evolution for enhanced delivery in the retina.…”
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Endocrine essentials endocrine update for general medicine /

An electronic book accessible through the World Wide Web; click to view

A general approach to joint pain focusing on acute monoarthritis

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