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Pregled bibliografske jedinice broj: 82259

Screening for fragile X syndrome: results from a school for mentally retarded children


Hećimović, Silva; Petek Tarnik, Iva; Barić, Ivo; Čakarun, Ž.; Pavelić, Krešimir
Screening for fragile X syndrome: results from a school for mentally retarded children // Acta Paediatrica, 91 (2002), 5; 535-539 (međunarodna recenzija, članak, znanstveni)


Naslov
Screening for fragile X syndrome: results from a school for mentally retarded children

Autori
Hećimović, Silva ; Petek Tarnik, Iva ; Barić, Ivo ; Čakarun, Ž. ; Pavelić, Krešimir

Izvornik
Acta Paediatrica (0803-5253) 91 (2002), 5; 535-539

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
CGG triplet repeats; fragile X syndrome; mental retardation; screening

Sažetak
Fragile X screening among mentally retarded children attending a special school should be highly encouraged to reveal the cause of mental retardation and to detect yet unrecognized fragile X individuals. The frequency of fragile X syndrome in a such population in Croatia was found to correlate with similar results from previous studies. However, since at the time of diagnosis all affected families had a second or even a third child born, earlier diagnosis should be considered to provide greater benefit to fragile X families.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove
Institut "Ruđer Bošković", Zagreb,
Medicinski fakultet, Zagreb

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE