Topics

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
Hyperechogenic bowel
I am in the 14th week of pregnancy and during a trophoblast test the fetus was tested positive for the DF508 CF mutation (heterozygote carrier). I and my husband have not been tested for any CF mutations. As far as I know there is no CF history in any of our families. I was informed by the ...
03.03.2016
3849+10 kb c / 5T
Hello, can you tell me the phenotype of the mutation 3849 + 10 kb c facing the variant T5 please. Thank you in advance. Best regards
27.02.2016
Mutations F508del & I507del
Hello, We are the proud parents of a beautiful boy with the mutations F508 and I507. We would like to have more information on both mutations together. Our son’s disease looks more digestive than respiratory, although he already had two pseudomonas colonizations (halted by an oral cure and an ...
27.02.2016
Mutations L206W and S1251N
Hello, I'm 26 years old and I have no symptoms of cystic fibrosis but these two mutations (discovered after diagnosis of CF in my two children). What do we know about these 2 mutations L206W and S1251N?
27.02.2016
Mutations p.Gly542X and c.371del
Hello, Our daughter (soon 2½ years) was diagnosed to have CF following a Newborn screening test. After investigation of the CFTR gene she was diagnosed to be compound heterozygous for mutations p.Gly542X (mutation from her father) and c.371del (mutation from her mother). What do you know about ...
27.02.2016
Research
Hello, May I ask you whether regarding the current level of research (+ 1900 identified mutations and the importance of modifier genes) a study on the mutation and modifier genes that parents passed, would not be a source of useful information for the development of a treatment adapted to the ...
01.02.2016
life expectation of CF nowadays
My son is born in 2015 with the classical form of CF. What is the life expectation of a CF patient born in 2015?
01.02.2016
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