Topics

Risk for cystic fibrosis: carrier father, no carrier mother (??)
Hello, I am contacting you because I am pregnant in the 3rd month now and I have concerns about my baby and a possible disease. We have learned recently that my husband's niece (daughter of his sister) was diagnosed with cystic fibrosis. We inquired about the disease and its transmission and had ...
13.03.2015
F508del/Normal Genotype and ENT symptoms
Hello, as I am heterozygous F508del / normal and had a sweat test of 59 in 2004 I was told that I am not sick but I have a treatment for nose and Eustachian tube problems that no longer works and causes a cholesteatoma. I am looking for a clear diagnosis. I live in the Var. Who to see?
08.03.2015
Mutation DF508 / R117H 7T
Hello, I am 20 weeks pregnant and we just learned that our baby has inherited by our mutations. My husband is a carrier of the DF508 mutation and myself the R117H 7T. Can you tell us about the symptoms that our child could have, how does this will lead in his daylife? Thank you in advance for ...
08.03.2015
Mutations of the same class or not?
Dear expert, Everywhere you read about different classes of mutations. I can understand that predictions cannot be made. But now I was wondering if it matters / makes a difference whether you have two mutations of the same class or 2 mutations from a different class ... And if 2 same mutations ...
08.03.2015
Genetic analysis
Hello! After two sweat tests we know, that our daughter suffers from CF. Today we got the results of the genetic analysis of our daughter. She has the following mutations: c.1647T>G und c.1652G>A Can anybody tell me something about it? It is also written, that she is "compound heterozygous". ...
17.02.2015
Vertex and F508del and 1717-1GA in exon 11
Hello, I have got the F508del and 1717-1GA in exon 11. Do you know about the clinical trials for my mutation, is there any trail in progress? Best regards
12.02.2015
Epigenetic
Hello I have heard about the epigenetic, which is presented by INSERM as one of the major scientific and medical challenges of our time. Could you tell more concerning the use of epigenetic for CF treatment? Thank you
30.01.2015
Diagnosis respectively exclusion of CF at adult age
Dear ladies and gentlemen, I suffer since 2 years without cessation from strong cough with sputum (I am non-smoker), burning and tightness in the throat, hoarseness, cramps in the thoracic cage, back pain, a feeling of pressure in the upper abdominal tract, frequent diarrhea. The cough starts ...
24.01.2015
Heterzygous CBAVD mutation TG12-5T/TG10-9T
Hello, my daughter has the above mentioned mutation of an atypical CF, how did it happen? Many greetings, S.
10.01.2015
hyperechogenic bowel
I am 22 weeks pregnant with my second child and during the ultrasound a hyperechogenic bowel was detected with no other indication of a chromosome anomaly. I am 33 years old and the chance for a down syndrome is 1:2500. I was tested for 90% of CF mutations and I am waiting for the results. If I am ...
06.01.2015
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