Zobrazeno 1 - 3
of 3
pro vyhledávání: '"F E P, Mundhofir"'
Publikováno v:
Clinical genetics. 84(6)
Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d8c652cf0dd6b09f085011e048db1f8
https://pubmed.ncbi.nlm.nih.gov/23320543
https://pubmed.ncbi.nlm.nih.gov/23320543
Autor:
T I, Winarni, F E P, Mundhofir, A, Ediati, M, Belladona, W M, Nillesen, H G, Yntema, B C J, Hamel, S M H, Faradz, R J, Hagerman
Publikováno v:
Clinical genetics. 83(3)
Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% over the age of 80. FMR1 molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::33d9d1aa7be72b5e0e03648510047d99
https://pubmed.ncbi.nlm.nih.gov/22568721
https://pubmed.ncbi.nlm.nih.gov/22568721
Publikováno v:
Genetic counseling (Geneva, Switzerland). 21(1)
We report on a boy with partial trisomies for chromosomes 8 and 22 caused by the presence of a small supernumerary marker chromosome (sSMC), a der(22)t(8;22)(p22;q11.21), inherited from a t(8;22)(p22;q11.21) translocation carrier mother. He has mild
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::698293b1068bdd89af82362dc3a1d0d2
https://pubmed.ncbi.nlm.nih.gov/20420036
https://pubmed.ncbi.nlm.nih.gov/20420036