| Conference paper |
- Alves, Ana Catarina; Miranda, Beatriz; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda;
et al. "Familial chylomicronemia syndrome in Portugal". 2021.
- Alves, Ana Catarina; Abrantes, Leonor; Sequeira, Sílvia; Moldovan, Oana; Nunes, Catarina; Antunes, Henedina; Martins, Esmeralda;
et al. "Familial Chylomicronemia Syndrome: clinical and molecular characterization of individuals WITH clinical diagnosis
in Portugal". 2020.
- Alves, Ana Catarina; Raimundo, Ana; Graça, Rafael; Sequeira, Sílvia; Ferreira, Ana Cristina; Moldovan, Oana; Travessa, André;
et al. "Study of rare familial monogenic dyslipidemias in Portugal". 2018.
- Gomes, Susana; Silva, Júlia; Pereira-Caetano, Iris; Lopes, Lurdes; Limbert, Catarina; Amaral, Daniela; Pina, Rosa; et al.
"Congenital adrenal hyperplasia in paediatric age: molecular analysis of the CYP21A2 gene and implications for genetic counselling".
2018.
10.13140/RG.2.2.30223.48806
- Serafim, Silvia; Marques, Bárbara; Pedro, Sónia; Brito, Filomena; Dupont, Juliett; Moldovan, Oana; Silveira-Santos, Rosário;
et al. "The clinical significance of 15q11.2 BP1-BP2 duplications: - Where do we stand?". 2016.
|
| Journal article |
- Almudena Amor-Salamanca; Alfredo Santana Rodríguez; Hazhee Rasoul; José F. Rodríguez-Palomares; Oana Moldovan; Thomas Morris
Hey; María Gallego Delgado; et al. "Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction".
Circulation: Genomic and Precision Medicine (2024): https://doi.org/10.1161/CIRCGEN.123.004404.
10.1161/CIRCGEN.123.004404
- Pauline Marzin; Rondeau S; Alessandri JL; Dieterich K; Carine LE GOFF; Mahaut C; Mercier S; et al. "Weill-Marchesani syndrome:
natural history and genotype-phenotype correlations from 18 news cases and review of literature.". Journal of medical genetics
(2024): https://doi.org/10.1136/jmg-2023-109288.
10.1136/jmg-2023-109288
- Rauan Kaiyrzhanov; Rad A; Sheng-Jia Lin; Bertoli-Avella A; Wouter W. Kallemeijn; Godwin A; Zaki MS; et al. "Bi-allelic ACBD6
variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.". Brain : a journal of
neurology (2023): https://doi.org/10.1093/brain/awad380.
10.1093/brain/awad380
- Rosário M; Vanessa Carvalho; Moldovan O; Crawford J; Chendo I; Reimão S; Rosa MM; Correia Guedes L. "HSD10 disease in a female
patient with juvenile onset parkinsonism.". Movement disorders clinical practice (2023): https://doi.org/10.1002/mdc3.13917.
10.1002/mdc3.13917
- André Travessa; Dias P; Rosmaninho-Salgado J; Aza-Carmona M; Moldovan O; Díaz-González F; Godinho F; et al. "Characterization
of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.". European
journal of medical genetics (2023): https://doi.org/10.1016/j.ejmg.2023.104867.
10.1016/j.ejmg.2023.104867
- Ben-Mahmoud A; Kishikawa S; Gupta V; Leach NT; Shen Y; Moldovan O; Goel H; et al. "A cryptic microdeletion del(12)(p11.21p11.23)
within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann
syndrome.". Scientific reports (2023): https://europepmc.org/articles/PMC10415337.
10.1038/s41598-023-40037-4
- Alves AC; Miranda B; Moldovan O; Santo RE; Gouveia Silva R; Soares Cardoso S; Diogo L; et al. "Rare primary dyslipidaemias
associated with low LDL and HDL cholesterol values in Portugal.". Frontiers in genetics (2023): https://europepmc.org/articles/PMC10150381.
10.3389/fgene.2022.1088040
- Jorge S; Kidd K; Vylet'al P; Nogueira E; Martin L; Howard K; Barešová V; et al. "Bi-allelic REN Mutations and Undetectable
Plasma Renin Activity in a Patient With Progressive CKD.". Kidney international reports (2023): https://europepmc.org/articles/PMC10166736.
10.1016/j.ekir.2023.01.017
- Beryl Royer-Bertrand; Marine Jequier Gygax; Katarina Cisarova; Jill A. Rosenfeld; Jennifer A. Bassetti; Oana Moldovan; Emily
O’Heir; et al. "De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social
cognition deficit but no seizures". Molecular Autism (2021): https://doi.org/10.1186/s13229-021-00473-3.
10.1186/s13229-021-00473-3
- "Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range
of genetic disorders". Genetics in Medicine 23 8 (2021): 1551-1568. http://dx.doi.org/10.1038/s41436-021-01159-0.
10.1038/s41436-021-01159-0
- Patrícia Lipari; Zakhar Shchomak; Leonor Boto; Patrícia Janeiro; Oana Moldovan; Francisco Abecasis; Ana Gaspar; Marisa Vieira.
"Inborn Errors of Metabolism in a Tertiary Pediatric Intensive Care Unit". Journal of Pediatric Intensive Care (2020):
https://doi.org/10.1055/s-0040-1721738.
10.1055/s-0040-1721738
- Sousa, Alexandra; Moldovan, Oana; Lebreiro, Ana; Bourbon, Mafalda; António, Natália; Rato, Quitéria; Rodrigues, Patrícia;
et al. "Recomendações para a realização de testes genéticos em cardiologia – revisão das principais diretrizes internacionais".
Revista Portuguesa de Cardiologia 39 10 (2020): 597-610. http://dx.doi.org/10.1016/j.repc.2020.03.016.
Published • 10.1016/j.repc.2020.03.016
- Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, Margaret P.; Avela,
Kristina; et al. "Mowat-Wilson syndrome: growth charts". Orphanet Journal of Rare Diseases 15 1 (2020): http://dx.doi.org/10.1186/s13023-020-01418-4.
10.1186/s13023-020-01418-4
- Martins, Rita; Moldovan, Oana; Sousa, Ana Berta; Levy, António; Quintas, Sofia. "Encefalopatias Epilépticas Infantis: O Novo
Paradigma do Diagnóstico Genético". Acta Médica Portuguesa 33 6 (2020): 415. http://dx.doi.org/10.20344/amp.12550.
10.20344/amp.12550
- Rato, J.; Ataíde, R.; Martins, D.; Moldovan, O.; Cavaco, D.; Anjos, R.. "Arrhythmogenic right ventricular cardiomyopathy presenting
as myocarditis in young patients: a concealed relationship,Miocardiopatía arritmogénica del ventrículo derecho en pacientes
jóvenes con miocarditis: una asociación oculta". Revista Espanola de Cardiologia (2020): http://www.scopus.com/inward/record.url?eid=2-s2.0-85080037079&partnerID=MN8TOARS.
10.1016/j.recesp.2019.10.011
- Moldovan, Oana. "Loeys-Dietz Syndrome and pregnancy: two case reports and literature review". Acta Obstet Ginecol Port
4 (2020): 263-266. http://www.fspog.com/fotos/editor2/13-aogp-d-20-00035.pdf.
- Martins, Rita; Moldovan, Oana; Sousa, Ana Berta; Levy, António; Quintas, Sofia. "Epileptic Encephalopathies of Childhood:
The New Paradigm of Genetic Diagnosis". (2020): https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/12550.
- Rato, João; Ataíde, Rita; Martins, Duarte; Moldovan, Oana; Cavaco, Diogo; Anjos, Rui. "Arrhythmogenic right ventricular cardiomyopathy
presenting as myocarditis in young patients: a concealed relationship". Revista Española de Cardiología (English Edition)
(2019): http://dx.doi.org/10.1016/j.rec.2019.10.007.
10.1016/j.rec.2019.10.007
- Alves, Ana Catarina; Sequeira, Sílvia; Cardoso, Maria Luís; Moldovan, Oana; Espírito Santo, Raquel; Oliveira, Renata; Guerra,
António; Bourbon, Mafalda. "Colesterol Total, nem oito(enta) nem (duzentos e) oitenta: Parte 2 – Hipolipidemias primárias
– alterações do metabolismo das lipoproteínas". Boletim_Epidemiologico_Observacoes (2019): http://hdl.handle.net/10400.18/6396.
- Fernández-Marmiesse, A.; Roca, I.; Díaz-Flores, F.; Cantarín, V.; Pérez-Poyato, M.S.; Fontalba, A.; Laranjeira, F.; et al.
"Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric
Patients". Frontiers in Neuroscience 13 (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85075670301&partnerID=MN8TOARS.
10.3389/fnins.2019.01135
- Gomes, Susana; Pereira-Caetano, Iris; Lopes, Maria Lurdes; Limbert, Catarina; Amaral, Daniela; Pina, Rosa; Antunes, Diana;
et al. "Espectro de alterações moleculares detetadas no gene CYP21A2 associadas a deficiência em 21 hidroxilase". (2018):
http://hdl.handle.net/10400.18/5681.
- Esteireiro, Ana; Carreira, Raquel; Moldovan, Oana; Bicho, Anabela. "Amioplasia Congénita: Caso Clínico". (2017): https://pjp.spp.pt//article/view/11687.
10.25754/pjp.2017.11687
- Esteireiro, Ana; Carreira, Raquel; Moldovan, Oana; Bicho, Anabela. "Amioplasia Congénita: Caso Clínico". (2017): https://doi.org/10.25754/pjp.2017.11687.
https://doi.org/10.25754/pjp.2017.11687
- Espírito Santo R; Moldovan O; Costa P; Graça A; Abrantes M. "Puffy feet in a female neonate.". BMJ case reports (2016):
http://europepmc.org/abstract/med/27511750.
10.1136/bcr-2016-215872
- Soeiro E Sá M; Moldovan O; Sousa AB. "Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.".
American journal of medical genetics. Part A (2016): http://europepmc.org/abstract/med/27112935.
10.1002/ajmg.a.37675
- Moldovan, Oana. "GENETIC COUNSELING AND FAMILY IMPLICATIONS IN HYPERTROPHIC CARDIOMYOPATHY". (2016): https://revistas.rcaap.pt/nascercrescer/article/view/10512.
- Alves, Ana Catarina; Sequeira, Sílvia; Moldovan, Oana; Lobarinhas, Goreti; Mansilha, Helena; Duarte, Sequeira; Gaspar, Ana;
Guerra, António; Bourbon, Mafalda. "Estudo de dislipidemias familiares monogénicas raras". (2016): http://hdl.handle.net/10400.18/3796.
- Moldovan, Oana. "GENETIC COUNSELING AND FAMILY IMPLICATIONS IN HYPERTROPHIC CARDIOMYOPATHY". (2016): https://doi.org/10.25753/BirthGrowthMJ.v25.i0.10512.
https://doi.org/10.25753/BirthGrowthMJ.v25.i0.10512
- Brito D; Miltenberger-Miltenyi G; Moldovan O; Navarro C; Madeira HC; Brito, Dulce; Miltenberger-Miltenyi, Gabriel; et al.
"Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up.". Revista portuguesa de cardiologia : orgao oficial
da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society
of Cardiology (2014): http://europepmc.org/abstract/med/24830310.
10.1016/j.repc.2013.10.014
- Piard J; Aral B; Vabres P; Holder-Espinasse M; Mégarbané A; Gauthier S; Capra V; et al. "Search for ReCQL4 mutations in 39
patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.". Clinical genetics (2014): http://europepmc.org/abstract/med/24635570.
10.1111/cge.12361
- Jones GE; Ostergaard P; Moore AT; Connell FC; Williams D; Quarrell O; Brady AF; et al. "Microcephaly with or without chorioretinopathy,
lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.". European journal of
human genetics : EJHG (2013): http://europepmc.org/abstract/med/24281367.
10.1038/ejhg.2013.263
- Prior AR; Moldovan O; Azevedo A; Moniz C. "Caffey disease in neonatal period: the importance of the family!". BMJ case
reports (2012): http://europepmc.org/abstract/med/23047998.
10.1136/bcr-2012-006996
- Whalen S; Héron D; Gaillon T; Moldovan O; Rossi M; Devillard F; Giuliano F; et al. "Novel comprehensive diagnostic strategy
in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.". Human mutation
(2011): http://europepmc.org/abstract/med/22045651.
10.1002/humu.21639
- Morey M; Castro-Feijóo L; Barreiro J; Cabanas P; Pombo M; Gil M; Bernabeu I; et al. "Genetic diagnosis of X-linked dominant
Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with
PHEX mutation type.". BMC medical genetics (2011): http://europepmc.org/abstract/med/21902834.
10.1186/1471-2350-12-116
- Moldovan O; Carvalho R; Jorge Z; Medeira A. "A new case of HDR syndrome with severe female genital tract malformation: comment
on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness,
and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al.". American journal of medical
genetics. Part A (2011): http://europepmc.org/abstract/med/21834031.
10.1002/ajmg.a.34153
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