SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Baliakas Panagiotis 1977 ) srt2:(2018)"

Sökning: WFRF:(Baliakas Panagiotis 1977 ) > (2018)

  • Resultat 1-3 av 3
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  • Norberg, Anna, et al. (författare)
  • Novel variants in Nordic patients referred for genetic testing of telomere-related disorders
  • 2018
  • Ingår i: European Journal of Human Genetics. - : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 26:6, s. 858-867
  • Tidskriftsartikel (refereegranskat)abstract
    • Telomere-related disorders are a clinically and genetically heterogeneous group of disorders characterized by premature telomere shortening and proliferative failure of a variety of tissues. This study reports the spectrum of telomere-related gene variants and telomere length in Nordic patients referred for genetic testing due to suspected telomere-related disorder. We performed Sanger sequencing of the genes TERT, TERC, DKC1, and TINF2 on 135 unrelated index patients and measured telomere length by qPCR on DNA from peripheral blood leukocytes. We identified pathogenic or likely pathogenic variants in 10 index patients, all of which had short telomeres compared to age-matched healthy controls. Six of the 10 variants were novel; three in TERC (n.69_74dupAGGCGC, n.122_125delGCGG, and n.407_408delinsAA) and three in TERT (p.(D684G), p.(R774*), and p.(*1133Wext*39)). The high proportion of novel variants identified in our study highlights the need for solid interpretation of new variants that may be detected. Measurement of telomere length is a useful approach for evaluating pathogenicity of genetic variants associated with telomere-related disorders.
  •  
3.
  • Baliakas, Panagiotis, 1977-, et al. (författare)
  • Refractory chronic "ITP" : When platelet size matters
  • 2018
  • Ingår i: Clinical Case Reports. - : Wiley. - 2050-0904. ; 6:9, s. 1779-1780
  • Tidskriftsartikel (refereegranskat)abstract
    • Key Clinical Message Inherited conditions associated with thrombocytopenia should be included in the differential diagnosis of young patients with refractory immune thrombocytopenia (ITP), even in the absence of a positive family history. Early identification of such conditions is of vital importance in order to reach the right diagnosis and avoid unnecessary or even harmful medication.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-3 av 3
Typ av publikation
tidskriftsartikel (3)
Typ av innehåll
refereegranskat (3)
Författare/redaktör
Baliakas, Panagiotis ... (3)
Amini, Rose-Marie (1)
Smedby, Karin E. (1)
Hultdin, Magnus (1)
Degerman, Sofie, 197 ... (1)
Mansouri, Larry (1)
visa fler...
Juliusson, Gunnar (1)
Agathangelidis, Andr ... (1)
Davi, Frederic (1)
Langerak, Anton W. (1)
Rosenquist, Richard (1)
Stamatopoulos, Kosta ... (1)
Scarfo, Lydia (1)
Sutton, Lesley-Ann (1)
Ghia, Paolo (1)
Hadzidimitriou, Anas ... (1)
Belessi, Chrysoula (1)
Darzentas, Nikos (1)
Yan, Xiao-Jie (1)
Davis, Zadie (1)
Chu, Charles C. (1)
Giudicelli, Veroniqu ... (1)
Anagnostopoulos, Ach ... (1)
Pospisilova, Sarka (1)
Lefranc, Marie-Paule (1)
Chiorazzi, Nicholas (1)
Larsson, Pär (1)
Roos, Göran (1)
Rosén, Anna, 1975- (1)
Mattsson, Mattias (1)
Lohi, Olli (1)
Rossing, Maria (1)
Norberg, Anna (1)
Panagiotidis, Panagi ... (1)
Nguyen-Khac, Florenc ... (1)
Plevova, Karla (1)
Minga, Eva (1)
Stavroyianni, Niki (1)
Oscier, David (1)
Shanafelt, Tait (1)
Sandberg, Yorick (1)
Tzenou, Tatiana (1)
Veronese, Silvio (1)
Trentin, Livio (1)
Catherwood, Mark (1)
Montillo, Marco (1)
Jelinek, Diane F. (1)
Vojdeman, Fie J. (1)
Niemann, Carsten U. (1)
Raaschou-Jensen, Kla ... (1)
visa färre...
Lärosäte
Uppsala universitet (3)
Umeå universitet (1)
Örebro universitet (1)
Lunds universitet (1)
Karolinska Institutet (1)
Språk
Engelska (3)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (3)
År
2018 (3)Ta bort avgränsningen

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 Stäng

Kopiera och spara länken för att återkomma till aktuell vy