A fenotípus pontos leírása: A klinikus hozzájárulása a genotípus-fenotípus összefüggések tisztázásához

Translated title of the contribution: Accurate description of the phenotype: The clinician's contribution to clarification of genotype-phenotype correlations

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Utility of genomics in medical practice highly depends on the knowledge of genotype-phenotype correlations. So far, severity, natural course, drug-sensitivity, etc. belonging to a given mutation have been clarified in only a part of diseases. Concerning such research, the main difficulty is that the objectively determined genotype is often related to the more or less superficially or even subjectively described phenotype. Detailed, accurate, possibly objective recording of the clinical picture and the findings during follow-up by the clinician may make the protracted and heteogeneuos collection of data much quicker and more reliable.

Original languageHungarian
Pages (from-to)1059-1061
Number of pages3
JournalOrvosi Hetilap
Volume147
Issue number23
Publication statusPublished - Jun 11 2006

Fingerprint

Genetic Association Studies
Genomics
Genotype
Phenotype
Mutation
Research
Pharmaceutical Preparations

ASJC Scopus subject areas

  • Medicine(all)

Cite this

@article{26b9d5a481864654bb05d474730daa91,
title = "A fenot{\'i}pus pontos le{\'i}r{\'a}sa: A klinikus hozz{\'a}j{\'a}rul{\'a}sa a genot{\'i}pus-fenot{\'i}pus {\"o}sszef{\"u}gg{\'e}sek tiszt{\'a}z{\'a}s{\'a}hoz",
abstract = "Utility of genomics in medical practice highly depends on the knowledge of genotype-phenotype correlations. So far, severity, natural course, drug-sensitivity, etc. belonging to a given mutation have been clarified in only a part of diseases. Concerning such research, the main difficulty is that the objectively determined genotype is often related to the more or less superficially or even subjectively described phenotype. Detailed, accurate, possibly objective recording of the clinical picture and the findings during follow-up by the clinician may make the protracted and heteogeneuos collection of data much quicker and more reliable.",
keywords = "Genomics in medical practice, Genotype-phenotype correlations, Medical documentation",
author = "K. M{\'e}hes and G. Kosztol{\'a}nyi",
year = "2006",
month = "6",
day = "11",
language = "Hungarian",
volume = "147",
pages = "1059--1061",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "23",

}

TY - JOUR

T1 - A fenotípus pontos leírása

T2 - A klinikus hozzájárulása a genotípus-fenotípus összefüggések tisztázásához

AU - Méhes, K.

AU - Kosztolányi, G.

PY - 2006/6/11

Y1 - 2006/6/11

N2 - Utility of genomics in medical practice highly depends on the knowledge of genotype-phenotype correlations. So far, severity, natural course, drug-sensitivity, etc. belonging to a given mutation have been clarified in only a part of diseases. Concerning such research, the main difficulty is that the objectively determined genotype is often related to the more or less superficially or even subjectively described phenotype. Detailed, accurate, possibly objective recording of the clinical picture and the findings during follow-up by the clinician may make the protracted and heteogeneuos collection of data much quicker and more reliable.

AB - Utility of genomics in medical practice highly depends on the knowledge of genotype-phenotype correlations. So far, severity, natural course, drug-sensitivity, etc. belonging to a given mutation have been clarified in only a part of diseases. Concerning such research, the main difficulty is that the objectively determined genotype is often related to the more or less superficially or even subjectively described phenotype. Detailed, accurate, possibly objective recording of the clinical picture and the findings during follow-up by the clinician may make the protracted and heteogeneuos collection of data much quicker and more reliable.

KW - Genomics in medical practice

KW - Genotype-phenotype correlations

KW - Medical documentation

UR - http://www.scopus.com/inward/record.url?scp=33747600862&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33747600862&partnerID=8YFLogxK

M3 - Article

C2 - 16856507

AN - SCOPUS:33747600862

VL - 147

SP - 1059

EP - 1061

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 23

ER -