Add to ORKG<em>Neonatal screening of cystic fibrosis is able to provide early presymptomatic diagnosis of the disease in newborns. The objective of this study was to evaluate an effectiveness of neonatal cystic fibrosis screening in Moscow. Authors studied molecular-genetical samples of DNA in 1,260 newborns with hypertripsinogenemia (the level of immunoreactive tripsin in first test — IRT I was > 70 ng/ml) for the presence of most frequent mutations of gene CFTR. All children were born in Moscow in 2008. They formed risk group because of results of IRT I test. Mutations were detected in 53 persons (47 heterozygotes and 6 homozygotes). The rate of false-negative results was 0.16 %; the result was similar to European data.</em><br /><strong><em>Key ...
Aim: To assess whether carriers and patients can be accurately identified by extended gene analysis ...
Newborn screening for cystic fibrosis (CF) is now universal in the US and many other countries. The ...
The results of two different protocols of neonatal cystic fibrosis (CF) screening in the Lazio regio...
AbstractBackgroundCystic fibrosis (CF) is a recessively inherited condition caused by mutation of th...
Item does not contain fulltextCONTEXT: Newborn screening for cystic fibrosis (CF) is included in man...
To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal scre...
BACKGROUND: Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, ...
BACKGROUND: Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, ...
OBJECTIVES: Newborn screening for cystic fibrosis (CF) provides a model to investigate the implicati...
Context Newborn screening for cystic fibrosis (CF) is included in many routine programmes but curren...
Context: Newborn screening for cystic fibrosis (CF) is included in many routine programmes but curre...
Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian p...
The incidence of cystic fibrosis over the last 10 years in East Anglia (a region of the United Kingd...
The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibro...
AbstractBackgroundNewborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many count...
Aim: To assess whether carriers and patients can be accurately identified by extended gene analysis ...
Newborn screening for cystic fibrosis (CF) is now universal in the US and many other countries. The ...
The results of two different protocols of neonatal cystic fibrosis (CF) screening in the Lazio regio...
AbstractBackgroundCystic fibrosis (CF) is a recessively inherited condition caused by mutation of th...
Item does not contain fulltextCONTEXT: Newborn screening for cystic fibrosis (CF) is included in man...
To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal scre...
BACKGROUND: Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, ...
BACKGROUND: Newborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many countries, ...
OBJECTIVES: Newborn screening for cystic fibrosis (CF) provides a model to investigate the implicati...
Context Newborn screening for cystic fibrosis (CF) is included in many routine programmes but curren...
Context: Newborn screening for cystic fibrosis (CF) is included in many routine programmes but curre...
Cystic fibrosis is one of the most common autosomal recessive hereditary diseases in the Caucasian p...
The incidence of cystic fibrosis over the last 10 years in East Anglia (a region of the United Kingd...
The introduction and widespread implementation of newborn bloodspot screening (NBS) for cystic fibro...
AbstractBackgroundNewborn screening (NBS) for Cystic Fibrosis (CF) has been introduced in many count...
Aim: To assess whether carriers and patients can be accurately identified by extended gene analysis ...
Newborn screening for cystic fibrosis (CF) is now universal in the US and many other countries. The ...
The results of two different protocols of neonatal cystic fibrosis (CF) screening in the Lazio regio...