Scientific Publications | Unilabs Genetics

Our genetic specialists and diagnostic specialists are passionate about advancing the field of genetics.

They participate in many different research initiatives - locally, nationally and internationally.

From supporting the diagnostic needs of ground-breaking research to collaborating with leading researchers on novel treatments, our specialists are actively involved in advancing the role of diagnostics in providing answers that help give better care.

To see the publications related to work that our scientists have been involved in, click below.

If you are interested in teaming up with our specialists for your research, click here.

Bethlem myopathy in a Portuguese patient - case report.PortugalMartins AI, Maarque C, Pinto-Basto J, Negrão L.

DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.Porto, PortugalSantos M, Cruz S, Peres J, Santos L, Tavares P, Basto JP, Salgado V, Valverde AH.

Senolytic Cocktail Dasatinib+Quercetin (D+Q) Does Not Enhance the Efficacy of Senescence-Inducing Chemotherapy in Liver Cancer.Prague, Czech RepublicKovacovicova K, Skolnaja M, Heinmaa M, Mistrik M, Pata P, Pata I, Bartek J, Vinciguerra M.

BRCA1 or CDK12 loss sensitizes cells to CHK1 inhibitors.Prague, Czech RepublicPaculová H, Kramara J, Šimečková Š, Fedr R, Souček K, Hylse O, Paruch K, Svoboda M, Mistrík M, Kohoutek J.

Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies.Lisbon, PortugalPereira PM, Ferreira AP, Tavares P, Braga AC.

Targeting genotoxic and proteotoxic stress-response pathways in human prostate cancer by clinically available PARP inhibitors, vorinostat and disulfiram.Prague, Czech RepublicMajera D, Skrott Z, Bouchal J, Bartkova J, Simkova D, Gachechiladze M, Steigerova J, Kurfurstova D, Gursky J, Korinkova G, Cwiertka K, Hodny Z, Mistrik M, Bartek J.

Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?Porto, PortugalOliveira HM, Pereira C, Santos Silva E, Pinto-Basto J, Pessegueiro Miranda H.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M.

Novel WDR45 mutation causing beta-propeller protein associated neurodegeneration (BPAN) in two monozygotic twins.Coimbra, PortugalAraújo R, Garabal A, Baptista M, Carvalho S, Pinho C, de Sá J, Vasconcelos M.

Single-test parallel assessment of multiple genetic disorders.Tavares P, Dias L, Palmeiro A, Rendeiro P, Tolias P.