SwePub
Sök i SwePub databas

  Extended search

Träfflista för sökning "WFRF:(Azzollini R.) srt2:(2016)"

Search: WFRF:(Azzollini R.) > (2016)

  • Result 1-2 of 2
Sort/group result
   
EnumerationReferenceCoverFind
1.
  • Parenti, I., et al. (author)
  • Expanding the clinical spectrum of the "HDAC8-phenotype - implications for molecular diagnostics, counseling and risk prediction
  • 2016
  • In: Clinical Genetics. - : WILEY-BLACKWELL. - 0009-9163 .- 1399-0004. ; 89:5, s. 564-573
  • Journal article (peer-reviewed)abstract
    • Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin-related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS-overlapping features. The phenotype of our patients is very broad, whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X-inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction.
  •  
2.
  • Labiano, A., et al. (author)
  • The MIRI Medium Resolution Spectrometer calibration pipeline
  • 2016
  • In: Proceedings of SPIE - The International Society for Optical Engineering. - : SPIE. - 0277-786X .- 1996-756X. - 9781510601994 ; 9910, s. 99102W-
  • Conference paper (peer-reviewed)abstract
    • The Mid-Infrared Instrument (MIRI) Medium Resolution Spectrometer (MRS) is the only mid-IR Integral Field Spectrometer on board James Webb Space Telescope. The complexity of the MRS requires a very specialized pipeline, with some specific steps not present in other pipelines of JWST instruments, such as fringe corrections and wavelength offsets, with different algorithms for point source or extended source data. The MRS pipeline has also two different variants: the baseline pipeline, optimized for most foreseen science cases, and the optimal pipeline, where extra steps will be needed for specific science cases. This paper provides a comprehensive description of the MRS Calibration Pipeline from uncalibrated slope images to final scientific products, with brief descriptions of its algorithms, input and output data, and the accessory data and calibration data products necessary to run the pipeline.
  •  
Skapa referenser, mejla, bekava och länka
  • Result 1-2 of 2

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view