User login
Enter your username and password here in order to log in on the website:
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
- MUTATION c.1680-886A>G (remainder)
- Hello, Thank you for your reply on the mutation c.1680-886A> G. It is therefore a splicing mutation and not a "nonsense" mutation. However, since due to reading frameshift it leads to a stop codon, can we assume that patients with this mutation would be eligibe to ataluren (PTC124)? Thank ...
- 11.05.2016
- MUTATION c.1680-886A>G
- Hello, Could you give me information about the mutation c.1680-886A> G? Does it induce a stop-codon? Thank you in advance.
- 11.05.2016
- Mild CF
- Hello My daughter, 2 months old, has a positive genetic test with F508del and 5T abnormalities but sweat test has been negative; she has just been diagnosed as a mild form of cystic fibrosis... She will be followed in prevention every 6 months throughout her life ... Extremely rare cases ...
- 11.05.2016
- French Registry
- Hello, To a question I asked you about the mutation 3849 + 10 kb and neonatal screening you answered that 80 patients were carriers of this mutation and only 17 of them were detected by neonatal test. Were the other 63 patients false negatives because they were pancreatic sufficient? Thank you ...
- 11.05.2016
- Neonatal Screening test
- Hello, could you tell me if babies with at least one mutation 3849 + 10 Kb> C and another mutation have been diagnosed in Guthrie? Cordially
- 18.04.2016
- Mild CF
- Hello My daughter is 2 months old and had positive genetic testing (deltaF508 and 5T) but has a negative sweat test. She has just been diagnosed with cystic fibrosis borderline (moderate atypical). I wish I could learn more by finding people in the same situation and especially about the changes ...
- 18.04.2016
- CF Screening Test
- Hello, Currently pregnant 2 months and a half, I have a niece who has cystic fibrosis (my sister’s daughter) and my spouse has a cousin, a boy of his mother's sister, who is CF. I wonder if there is a chance we be carriers?
- 25.04.2016
- Modifier genes ?
- Hello, for several weeks, I hear a lot about modifier genes. Could you tell me more? How far is the research? Have they been identified?
- 08.04.2016
- R1066H
- Dear ladies and gentlemen, our son has been diagnosed to suffer from CF. It deals with the mutation R1066H, a rather seldom mutation. Do you know the clinical course and does it belong to atypical CF? Many thanks for your answer. Best regards, M.
- 14.03.2016
- Genetic testing
- I am in the 17th week of pregnancy and I was tested for 92% of the CF mutations. I received an answer saying that no pathological mutations were detected, but just the following non pathological polymorphisms: 7Τ/7Τ,p.V470M, rs213950. What are the chances for the child to have CF, bearing in mind ...
- 03.03.2016