A propósito del artículo publicado: "Teorías acerca de los mecanismos celulares y moleculares en la

Recognizable Patterns of Malformation: Chromosomal Abnormality Syndromes. Very Small Stature, Not Skeletal Dysplasia. Moderate Short Stature, Facial, +/- Genital. Senile-Like Appearance. Early Overgrowth with Associated Defects. Unusual Brain And/Or Neuromuscular Findings with Associated Defects. Facial Defects as Major Feature. Limb Defects as Major Feature. Osteochondrodysplasias. Osteochondrodysplasias with Osteopetrosis. Craniosynostosis Syndromes. Other Skeletal Dysplasias. Storage Disorders. Connective Tissue Disorders. Hamartoses. Ectodermal Dysplasias. Environmental Agents. Miscellaneous Syndromes. Miscellaneous Sequences. Spectra of Defects. Miscellaneous Associations. Alphabetical Listing of Syndromes. Approaches to Categorical Problems of Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia. Morphogenesis and Dysmorphogenesis. Genetics, Genetic Counselling and Prevention. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes. Normal Standards. Pattern of Malformation Differential Diagnosis By Anomalies.

Smith's recognizable patterns of human malformation

Objective: To explore the impact of apoE-4 on Alzheimer9s disease (AD) and its age at onset. Design: A genetic linkage study using affected relative pairs, predominantly siblings. Setting: Three academic medical centers ascertained subjects from memory disorder clinics, nursing homes, and the local community. Subjects: 310 families including 679 subjects with AD by NINCDS/ADRDA and/or Khachaturian criteria and 231 unaffected subjects. Outcome measure: ApoE genotype. Analytic methods: Association, affected pedigree member, sibling pair, and lod score analyses. Results: ApoE-4 was strongly associated with AD in this sample (allele frequency = 0.46 vs. 0.14 in controls, p NEUROLOGY 1997;48: 139-147

ApoE-4 and Age at Onset of Alzheimer's Disease The NIMH Genetics Initiative

Evidence suggests that vascular and inflammatory factors may be important in the etiology of Alzheimer disease (AD). The Glu/Glu genotype at the Glu298Asp variant of the endothelial nitric oxide synthase (NOS3) gene has been tested for association with AD in several Caucasian and Asian populations, with conflicting results. We tested the Glu298Asp variant for association in African American and Caucasian AD patients, unaffected siblings, and unrelated controls from the MIRAGE Study. To explore whether the inconsistent results in previous studies might be due to linkage disequilibrium with a polymorphism or haplotype not previously tested, we genotyped 10 additional NOS3 single nucleotide polymorphisms (SNPs) spanning 25.3 kb. Finally, we compiled results of previous studies of Glu298Asp using meta-analysis, to determine whether the aggregate studies support an association between Glu298Asp and AD. We found that the Glu298 allele was associated with higher risk of AD in the MIRAGE African American (p = 0.002) but not Caucasian (p = 0.9) groups. None of the additional SNPs were associated with AD in the Caucasians, whereas two showed evidence for association in the African Americans. The meta-analysis showed a small effect of the Glu298Asp GG genotype on AD risk across all studies (summary odds ratio = 1.15, 95% confidence interval: 0.97-1.35) and significant heterogeneity of this association among studies (p = 0.02).

Genetic association between endothelial nitric oxide synthase and Alzheimer disease

Allelic association between the D10S1423 marker and Alzheimer's disease in a German population.

Handle everyday research tasks with reliable, citation-backed results

Your personal Research Agent to handle research tasks with citation-backed results

Popular Tasks used by Researchers

How can I help with your research?

Meet SciSpace

Get more enhanced response by uploading the PDFs you want me to reference.

No relevant PDFs in your library

SciSpace is the AI research assistant for academics. Run systematic literature reviews on 280M+ papers, and write papers with cited sources. Trusted by 1M+ students, PhDs & researchers.

SciSpace | AI for Research

Analyze PDFs

Code & Manuscripts

Funding & Grants

Literature & Patents

Medical & Clinical Data

Systematic Review

Visualize & Present

Web & Data

Build a Google Scholar-like website for your research.

Build a website

Create charts and images for your research

Create a Chart

Write a paper for submission to a journal

Draft a manuscript

Patent Search

Design eye-catching scientific posters in minutes.

Scientific Poster Generation

Systematic Literature Review

One task is running at the moment. Your messages will be shown right after.

Drag and drop or click here to browse

Loved by <highlight>1 million+</highlight> researchers

Extract a list of specific topics and their sources from unstructured text

Topics

Compare and analyze relevant papers that matches with your search

Papers

Get insights from PDFs and bookmarked papers from your library

My library

Recent searches

Try searching for:

Catch AI-generated content in scholarly and non-scholarly content

{ai} Detector

Ai Writer

Get PDF Summaries, highlighted text explanations 

Chat with PDF

Effortlessly create in-text citations and bibliographies in APA and 2,500 other formats

Citation generator

Get explanations, summaries, and answers on academic papers

Ease up your research workflow with {scispace}'s cohort of exciting AI tools

Elevate your academic writing skills and convey your ideas the way you want

Paraphraser

Explore our range of reading and writing tools

Your file is being prepared and should be ready in a few minutes. If it's a large file, it might take a bit longer. You can close this window, and we'll email you the file when it's done.

You have reached a maximum limit of <strong>{limit}</strong> columns in the table. Remove at least <strong>1</strong> column to add or create another one.

A propósito del artículo publicado: "Teorías acerca de los mecanismos celulares y moleculares en la

Chat with Paper

AI Agents for this Paper

References

Smith's recognizable patterns of human malformation

ApoE-4 and Age at Onset of Alzheimer's Disease The NIMH Genetics Initiative

Genetic association between endothelial nitric oxide synthase and Alzheimer disease

Allelic association between the D10S1423 marker and Alzheimer's disease in a German population.