Σύνδεση χρήστη
Keywords
- ABPA_Aspergillus
- accompanying diseases
- air-improving devices
- allergy
- animals_pets
- antibiotic therapy
- asthma
- complementary medicine
- covid-19
- diabetes
- diagnostics
- drugs side effects
- drugs under development_genetic therapy
- ENT
- general aspects
- genetics
- health care
- hepatobiliary disease
- hygiene
- i.v.-lines
- inhalation
- lung
- microbiology
- miscellaneous
- modulator therapy
- MRSA
- nutrition and GI problems
- oxygen supplementation_therapy
- physiotherapy
- Pseudomonas aeruginosa
- psychosocial
- public facilities
- recreational activities
- reproduction
- research
- social law
- sport
- swine flu_novel influenza
- transplantation
- travelling
- vaccination
- ventilation
Topics
- Families with several CF people
- Hello Are there families with several people with cystic fibrosis ? Thank you
- 14.05.2014
- mutation
- My 9-months-old daughter is homozygous for the c.489+1G>T mutation. Can you tell me more about her form of cystic fibrosis; how much is it widespread and severe? Thank you in advance for your answer.
- 12.05.2014
- Amlexanox
- Dear expert team, I got aware of the following publications: http://www.ncbi.nlm.nih.gov/m/pubmed/22938201/ and http://www.google.com/patents/EP2437741A1?cl=en I would like to know if there is any data yet concerning the correction of CF nonsense mutations? Respectively, if there are any ...
- 12.05.2014
- Cystic fibrosis and beta-thalassaemia
- Is there a chance for somebody to be a carrier of CF and beta-thalassaemia simultaneously? What is the correlation between the two and the chances/impact in having children?
- 12.05.2014
- Splicing and stop codon
- Hello, There are among the numerous cystic fibrosis mutations, nonsense mutations (stop codon) and splicing mutations. Some splicing mutations lead to the formation of a stop codon. Is it the case of the 1811+1,6 Kb A> G? Thank you for your answer.
- 05.05.2014
- Genotype F508del / G85E
- Please, I would like to get general information about the phenotype associated with the mutations F508del and G85E. Thanks
- 30.04.2014
- Mutation 2711delT
- Hello, I would like to know more about the homozygous mutation 2711delT. Is it a mutation-stop, are there any other people known with this case? Thank you very much for your Response.
- 30.04.2014
- MUTATION
- Hello, according to the result of the genetic test we know that our 9 year old son is carrying the mutation C.579 3 A sup.G and c.1521_1523 delCTT or also called p.Phe508del. Could you tell me more about these changes? Thank you in advance and thank you for this very helpful site.
- 05.05.2014
- mutation delF508 / R553X
- My son (8 years old) suffers for years from gastrointestinal problems. For him as a CF patient, lung problems are not the main focus. He has already had an ileus 2 times (as a consequence resection of 50 cm of the gut), furthermore an exocrine pancreatic insufficiency, an enlargement of the spleen ...
- 28.04.2014
- Disease Causing or not?
- Hi, my 18 month old son's CFTR renotyping results are back. He is heterozygous for; c.[1521_1523delCTT] + c.[1584G>A] they also found sequence variants of limited or no known clincal significance; c.744-31TTGA[5]+[6] c.869+11C>T c.1210-12T[7]+[9] (poly T ...
- 08.04.2014