10 cystic fibrosis: genetic-clinical correlation
نویسندگان
چکیده
منابع مشابه
CLINICAL REVIEW Cystic fibrosis
Over 7000 people have cystic fibrosis in the United Kingdom. It is the commonest genetically inherited disease in white populations (1 in 2500 newborns), although it is increasingly recognised as being important in non-white populations. However, most general practitioners have only one or two patients on their list, and as management generally takes place in specialist centres, many general pa...
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Pre-implantation genetic diagnosis (PGD) is an established alternative to prenatal testing for couples at risk of transmitting genetic disorders such as cystic fibrosis (CF).PGD screens pre-implantation embryos, allowing the safe transfer of those identified as unaffected. Awareness of CF carrier status in Ireland is increasing following the introduction of neonatal screening in 2011. PGD is th...
متن کاملGenetic variation and clinical heterogeneity in cystic fibrosis.
Cystic fibrosis (CF), a lethal genetic disease, is characterized by substantial clinical heterogeneity. Work over the past decade has established that much of the variation is genetically conferred, and recent studies have begun to identify chromosomal locations that identify specific genes as contributing to this variation. Transcriptomic and proteomic data, sampling hundreds and thousands of ...
متن کاملCystic Fibrosis In Jordan : Clinical And Genetic Aspects
Results: There were 37 males and 35 females in the study group. The mean age of all patients was 4.5 years; the mean age at presentation was 21.2 months; the mean age at diagnosis was 30.7 months and the mean delay of CF diagnosis was 9 months. Pancreatic exocrine insufficiency was documented in 94% of cases. Twenty (27%) children died, most below the age of 1 year. Pseudomonas aeruginosa was i...
متن کاملClinical Policy Title: Genetic testing for cystic fibrosis
ABOUT THIS POLICY: Keystone First has developed clinical policies to assist with making coverage determinations. Keystone First’s clinical policies are based on guidelines from established industry sources, such as the Centers for Medicare & Medicaid Services (CMS), state regulatory agencies, the American Medical Association (AMA), medical specialty professional societies, and peer-reviewed pro...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2006
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(06)80011-1