Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array‐CGH
To the Editor: Developmental delay (DD) affects ∼3% of the general population and the underlying cause remains unknown in about half of the cases. G-banded karyotyping is the most common approach for the detection of genomic alterations, however, despite its indisputable success, this tool has limit...
Sparad:
Huvudupphovsmän: | Marjolein Kriek, Jeroen Knijnenburg, Stefan J. White, Carla Rosenberg, Johan T. den Dunnen, Gert‐Jan B. van Ommen, Hans J. Tanke, Martijn H. Breuning, Károly Szuhai |
---|---|
Materialtyp: | Artigo |
Språk: | engelska |
Publicerad: |
2007
|
Länkar: | https://doi.org/10.1002/ajmg.a.31593 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.31593 |
Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|
Liknande verk
Liknande verk
-
MLPA for confirmation of array CGH results and determination of inheritance
av: Hills, Alison, et al.
Publicerad: (2010) -
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents
av: Carla Rosenberg, et al.
Publicerad: (2005) -
Array‐CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents
av: Rosenberg, C, et al.
Publicerad: (2006) -
Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms
av: Knijnenburg, Jeroen, et al.
Publicerad: (2005) -
Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase
av: Lesnik Oberstein, Saskia A. J., et al.
Publicerad: (2006)