Sanja Cirkovic

4 Questions 12 Answers 0 Followers

Questions related from Sanja Cirkovic

What are the EMNQ recommendations about nomenclature of the large (whole exons) del/dup?

Hi, I have a question for those who has been recently involved in EMNQ schemes for the diseases that included large (whole exons) gene deletions/duplications. Do you used official nomenclature of...

17 October 2015 7,387 4 View

Which nomenclature do you use for whole exons deletions/duplications?

I have a few questions regarding the nomenclature for the (large) deletions for example: deletion of SMN1 gene exons: 7 and 8 (official nomenclature: 8 and 9 exons) detected by MLPA (P060 MRC...

15 October 2015 527 5 View

What do you know about inv(9)(p22q22)?

Inversion inv(9)(p22q22) is not the most common variant like inv(9)(p12q13), but it is pericentric and not so rare, too. I could not find it in the literature regardless to the phenotype or...

15 October 2015 6,906 4 View

What is the best way to check the results of my MLPA experiments?

Hi! I am currently dealing with the result of single exon 24 probe seems deleted (0.5:1), in my MLPA experiments in one one patient. The nearest probe in this gene is for exon 15 and it shows...

07 May 2015 6,712 7 View