Cystic fibrosis in Northern Ireland.

Nevin, G. B.; Nevin, N. C.; Redmond, A. O. B.

doi:10.1136/jmg.16.2.122

Cited by 10 publications

(2 citation statements)

References 10 publications

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“…Genetic testing for CF is difficult as most populations are heterogeneous and in only a few ethnic groups have at least 98% of the mutations been identified (Fkrec et al, 1992;Cheadle et al, 1993). Northern Ireland has a high disease incidence of -1 in 1,850 live births (Nevin et al, 1979) with a population carrier frequency of 1 in 22. AF508 accounts for 68% of CF alleles, which is unexpectedly less than the North-Western European (and British and Republic of Ireland) average of 75% (CFGAC, 1994 …”

Section: Introductionmentioning

confidence: 99%

Mutation characterization ofCFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes

Hughes¹,

Hill

Maçek

et al. 1996

Hum. Mutat.

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Section: Introductionmentioning

confidence: 99%

Mutation characterization ofCFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes

Hughes¹,

Hill

Maçek

et al. 1996

Hum. Mutat.

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“…An incidence of l in 2000 live births has been reported (3), and approximately I in 20 of the population is a carrier of the gene or heterozygote (8).…”

Section: Cfp Cystic Fibrosis Protein Ief Isoelectric Focusingmentioning

confidence: 99%

Detection of the Cystic Fibrosis Protein by Isoelectric Focusing of Serum and Plasma

et al. 1984

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Cystic fibrosis in Ontario

Sturgess¹,

Czegledy-Nagy

Corey

et al. 1985

Am. J. Med. Genet.

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The incidence of cystic fibrosis in Ontario, Canada has been determined from clinical data, from the cystic fibrosis database of the Hospital for Sick Children, Toronto, and from population statistics in the Province of Ontario. The survey included 420 confirmed cases of cystic fibrosis born during the period 1966-1980. The mean incidence during this period was one in 2,927. In the last 5-year period, a decline was noted in incidence that may have reflected in part the effectiveness of early diagnosis and genetic counseling in affected families. During the period of the survey, over 60% of cases were diagnosed within the first year of life, 74% by age 2 years, and 90% by age 5 years. Clinical diagnosis in the first year of life was more common in males (65%) than in females (54%), a consistent finding during the period of the survey. The incidence of meconium ileus was 15.7% of ascertained cases of cystic fibrosis, with similar incidences in males (16.4%) and females (14.4%). Although survival has not been the subject of this survey, mortality in the neonatal period was significantly higher in males than in females with cystic fibrosis.

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Cystic fibrosis in Northern Ireland.

Cited by 10 publications

References 10 publications

Mutation characterization ofCFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes

Mutation characterization ofCFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for 94% of CF chromosomes

Detection of the Cystic Fibrosis Protein by Isoelectric Focusing of Serum and Plasma

Cystic fibrosis in Ontario

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