Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 735280

Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities.


Morožin Pohovski, Leona; Barišić, Ingeborg
Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities. // Folia Medica Facultatis Medicinae Universitatis Saraeviensis, 49 (2014), 1; 15-21 (podatak o recenziji nije dostupan, pregledni rad, ostalo)


CROSBI ID: 735280 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities.

Autori
Morožin Pohovski, Leona ; Barišić, Ingeborg

Izvornik
Folia Medica Facultatis Medicinae Universitatis Saraeviensis ((0352-9630)) 49 (2014), 1; 15-21

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, ostalo

Ključne riječi
intellectual disabilities; child; chromosome aberrations; genetic testing

Sažetak
Developmental delay/intellectual disability (DD/ID) affects 1%-3% of the children population. Specific genetic factors are the most common cause of DD/ID. Results of the new molecular karyotyping techniques indicate a high incidence of submicroscopic rearrangements in patients with DD/ID. The implementation of Multiplex Ligation- Dependent Probe Amplification (MLPA) has enabled analysis of microdeletion/microduplication syndromes and subtelomeric chromosome aberrations. MLPA follow-up probe mix for specific subtelomeric regions and microdeletion syndromes has proven to be suitable for confirmation and better characterization of selected aberrations for better diagnostic and prognostic information on the patient.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Projekt / tema
072-1083107-0361 - Telomere i kromosomske aberacije u patologiji dječje dobi (Petković, Iskra, MZOS - )

Ustanove
Klinika za dječje bolesti Medicinskog fakulteta

Citiraj ovu publikaciju

Morožin Pohovski, Leona; Barišić, Ingeborg
Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities. // Folia Medica Facultatis Medicinae Universitatis Saraeviensis, 49 (2014), 1; 15-21 (podatak o recenziji nije dostupan, pregledni rad, ostalo)
Morožin Pohovski, L. & Barišić, I. (2014) Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities.. Folia Medica Facultatis Medicinae Universitatis Saraeviensis, 49 (1), 15-21.
@article{article, year = {2014}, pages = {15-21}, keywords = {intellectual disabilities, child, chromosome aberrations, genetic testing}, journal = {Folia Medica Facultatis Medicinae Universitatis Saraeviensis}, volume = {49}, number = {1}, issn = {(0352-9630)}, title = {Multiplex ligation-dependent probe amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities.}, keyword = {intellectual disabilities, child, chromosome aberrations, genetic testing} }

Uključenost u ostale bibliografske baze podataka:


  • EBSCO Publishing





Contrast
Increase Font
Decrease Font
Dyslexic Font