Topics

Carrier of F1052V and husband negative for 90% of mutations
I am 17 weeks pregnant. During the 13th week of pregnancy I and my husband were tested for the 90% of CF mutations at Horemion Lab. Today I was informed that I carry the F1052V mutation, whereas my husband tested negative for the 90% of CF mutations. Do you thing that we should check the other 5% ...
20.05.2014
Mild CF mutation
I was tested for CF at Horemion Laboratory [Greece] and came up positive for a very mild mutation, which is considered neutral without pathological consequences. The geneticians, as well as my gyneocologist, told me not to worry and that it was not necessary for my husband to get tested because, ...
19.05.2014
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
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