Publications
Information about journal articles, updated at 13-07-2025, from platform CIÊNCIAVITAE.
A Novel Genetic Variant in <i>MBD5</i> Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia
Mariana Martins; Ana Rafaela Oliveira; Solange Martins; José Vieira; Pedro Perdigão; Ana Rita Fernandes; Pereira de Almeida L; et al, International Journal of Molecular Sciences. 2023. https://www.mdpi.com/1422-0067/24/16/12603 . 10.3390/ijms241612603 . International Journal of Molecular Sciences
Regeneration of pulp-dentin complex using human stem cells of the apical papilla: in vivo interaction with two bioactive materials
Sequeira, Diana B.; Oliveira, Ana Rafaela; Seabra, Catarina M.; Palma, Paulo J.; Ramos, Carlos; Figueiredo, Maria H.; Santos, Ana C.; et al, Clinical Oral Investigations. 2021. http://dx.doi.org/10.1007/s00784-021-03840-9 . 10.1007/s00784-021-03840-9 . published Clinical Oral Investigations
Social subordination induced by early life adversity rewires inhibitory control of the prefrontal cortex via enhanced Npy1r signaling
Franco, Lara O.; Carvalho, Mário J.; Costa, Jéssica; Ferreira, Pedro A.; Guedes, Joana R.; Sousa, Renato; Edfawy, Mohamed; et al, 2020. under revision
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons
Seabra, Catarina M.; Aneichyk, Tatsiana; Erdin, Serkan; Tai, Derek J. C.; De Esch, Celine E. F.; Razaz, Parisa; An, Yu; et al, Molecular Autism. 1. 11. 2020. http://dx.doi.org/10.1186/s13229-020-00354-1 . 10.1186/s13229-020-00354-1 . published Molecular Autism
Effects of a New Bioceramic Material on Human Apical Papilla Cells
Sequeira, Diana; Seabra, Catarina; Palma, Paulo; Cardoso, Ana; Peça, João; Santos, João, Journal of Functional Biomaterials. 4. 9. 2018. http://dx.doi.org/10.3390/jfb9040074 . 10.3390/jfb9040074 . published Journal of Functional Biomaterials
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings
Seabra, C.M.; Szoko, N.; Erdin, S.; Ragavendran, A.; Stortchevoi, A.; Maciel, P.; Lundberg, K.; et al, American Journal of Medical Genetics, Part A. 2478 - 2484. 9. 173. 2017. http://www.scopus.com/inward/record.url?eid=2-s2.0-85023177636&partnerID=MN8TOARS . 10.1002/ajmg.a.38327 . published American Journal of Medical Genetics, Part A
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C; Brand H; Collins RL; Kammin T; Mitchell E; Hodge JC; Hanscom C; et al, Nature Genetics. 2017. http://europepmc.org/abstract/med/27841880 . 10.1038/ng.3720 . published Nature Genetics
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND; Brand H; Kupchinsky ZA; Bengani H; Plummer L; Jones TI; Erdin S; et al, Nature Genetics. 2017. http://europepmc.org/abstract/med/28067909 . 10.1038/ng.3743 . published Nature Genetics
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Collins RL; Brand H; Redin CE; Hanscom C; Antolik C; Stone MR; Glessner JT; et al, Genome Biology. 2017. http://europepmc.org/abstract/med/28260531 . 10.1186/s13059-017-1158-6 . published Genome Biology
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.
Tai DJ; Ragavendran A; Manavalan P; Stortchevoi A; Seabra CM; Erdin S; Collins RL; et al, Nature Neuroscience. 2016. http://europepmc.org/abstract/med/26829649 . 10.1038/nn.4235 . published Nature Neuroscience
The mutational spectrum of WT1 in male infertility.
Seabra CM; Quental S; Lima AC; Carvalho F; Gonçalves J; Fernandes S; Pereira I; et al, The Journal of Urology. 2015. http://europepmc.org/abstract/med/25451826 . 10.1016/j.juro.2014.11.004 . published The Journal of Urology
A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia.
Seabra CM; Quental S; Neto AP; Carvalho F; Gonçalves J; Oliveira JP; Fernandes S; et al, Reproductive BioMedicine Online. 2014. http://europepmc.org/abstract/med/24912414 . 10.1016/j.rbmo.2014.04.017 . published Reproductive BioMedicine Online
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Lopes AM; Aston KI; Thompson E; Carvalho F; Gonçalves J; Huang N; Matthiesen R; et al, PLoS Genetics. 2013. http://europepmc.org/abstract/med/23555275 . 10.1371/journal.pgen.1003349 . published PLoS Genetics
5 13 out of 13 Publications
