Scientific Publications | Unilabs Genetics

Scientific Publications

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.
 

Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies.Lisbon, PortugalPereira PM, Ferreira AP, Tavares P, Braga AC.
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.Santo Tirso, PortugalMelo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S.
A New Mutation Causing Progressive Familiar Intrahepatic Cholestasis Type 3 in Association with Autoimmune Hepatitis.Porto, PortugalOliveira HM, Pereira C, Santos-Silva E, Pinto-Basto J, Vizca’no JR, Pessegueiro-Miranda H.
A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.Porto, PortugalPereira P, Guerreiro A, Fonseca M, Halpern C, Pinto-Basto J, Monteiro JP.
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.
Alcohol-abuse drug disulfiram targets cancer via p97 segregase adaptor NPL4.Prague, Czech RepublicSkrott Z, Mistrik M, Andersen KK, Friis S, Majera D, Gursky J, Ozdian T, Bartkova J, Turi Z, Moudry P, Kraus M, Michalova M, Vaclavkova J, Dzubak P, Vrobel I, Pouckova P, Sedlacek J, Miklovicova A, Kutt A, Li J, Mattova J, Driessen C, Dou QP, Olsen J, Hajduch M, Cvek B, Deshaies RJ, Bartek J.
A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.Porto, PortugalParis LP, Usui Y, Serino J, Sá J, Friedlander M.
Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.Coimbra, PortugalCarreira IM, Ferreira SI, Matoso E, Pires LM, Ferrão J, Jardim A, Mascarenhas A, Pinto M, Lavoura N, Pais C, Paiva P, Simões L, Caramelo F, Ramos L, Venâncio M, Ramos F, Beleza A, Sá J, Saraiva J, de Melo JB.
Bethlem myopathy in a Portuguese patient - case report.PortugalMartins AI, Maarque C, Pinto-Basto J, Negrão L.
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.Porto, PortugalLopes F, Soares G, Gonçalves-Rocha M, Pinto-Basto J, Maciel P.