De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart … C Gug, D Stoicanescu, I Mozos, L Nussbaum, M Cevei, D Stambouli, ... Frontiers in Pediatrics 8, 375, 2020 | 12 | 2020 |
Mature miR-99a upregulation in the amniotic fluid samples from female fetus down syndrome pregnancies: a pilot study AC Vizitiu, D Stambouli, AG Pavel, MC Muresan, DM Anastasiu, C Bejinar, ... Medicina 55 (11), 728, 2019 | 9 | 2019 |
Phenotypic Variability of 17q12 Microdeletion Syndrome–Three Cases and Review of Literature A Țuțulan-Cuniță, AG Pavel, L Dimos, M Nedelea, A Ursuleanu, ... Balkan Journal of Medical Genetics 24 (2), 71-82, 2021 | 7 | 2021 |
A herpetological hotspot in peril: Anthropogenic impact upon the amphibian and reptile populations from the Baile Herculane tourist resort TC Sahlean, A Strugariu, SR Zamfirescu, A Pavel, CM Puscasu, ... Romania. Herp. Rom 2, 37-46, 2008 | 7 | 2008 |
Influences of angiotensin I-converting enzyme gene insertion/deletion polymorphism on prostate cancer risk in Romania AG Pavel, D Stambouli, C Gingu, A Preda, I Gener, C Baston, G Anton Romanian Biotechnological Letters 24, 1043-9, 2019 | 3 | 2019 |
Leukemic conversion involving RAS mutations of type 1 CALR-mutated primary myelofibrosis in a patient treated for HCV cirrhosis: a case report P Gurban, C Mambet, A Botezatu, LG Necula, AI Neagu, L Matei, IM Pitica, ... Frontiers in oncology 13, 1266996, 2023 | 2 | 2023 |
The Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome. IO FOCSA, A TUTULAN-CUNITA, A PAVEL, D PREPELITA, D BRATU, ... Medicina Moderna 29 (3), 2022 | 2 | 2022 |
Genetic variant located on chromosome 17p12 contributes to prostate cancer onset and biochemical recurrence AG Pavel, D Stambouli, I Gener, A Preda, G Anton, C Baston Scientific Reports 12 (1), 4546, 2022 | 2 | 2022 |
Cumulative Effect Assessment of Common Genetic Variants on Prostate Cancer: Preliminary Studies AG Pavel, D Stambouli, G Anton, I Gener, A Preda, C Baston, C Gingu Biomedicines 10 (11), 2733, 2022 | 1 | 2022 |
SNP microarray-our experience in prenatal diagnosis A Pavel, L Dimos, E Rentea, A Tutulan-Cunita, A Mocanu, D Stambouli Molecular Cytogenetics 12, 2019 | 1 | 2019 |
A rare prenatal case of osteogenesis imperfecta FM Nedelea, D Prepelita, A Tutulan-Cunita, A Pavel, G Cardos, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 104-105, 2024 | | 2024 |
Further evidence of a novel PPP1R12A frameshift variant involved in anomalies of sexual development IO Focsa, A Tutulan-Cunita, A Pavel, D Prepelita, C Strugaru, EE Braha, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 134-134, 2024 | | 2024 |
Preliminary results of the first carrier screening study in the Romanian population D Prepelita, A Tutulan-Cunita, A Pavel, G Lungu, V Plaiasu, IO Focsa, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 95-95, 2024 | | 2024 |
Genetic susceptibility to prostate cancer biochemical recurrence after radical prostatectomy A Pavel, D Stambouli, A Preda, I Gener, G Anton EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 398-398, 2022 | | 2022 |
Regions of homozygosity in prenatal investigation: to sequence or not to sequence? AC Tutulan-Cunita, L Dimos, AG Pavel, FM Nedelea, A Naszan, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 112-112, 2022 | | 2022 |
Whole exome sequencing in Romania-beginnings and challenges A Tutulan-Cunita, F Nedelea, M Gica, N Usurelu, D Blanita, E Rentea, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1795-1795, 2019 | | 2019 |
Minor ultrasonographic findings with major fetal chromosomal abnormalities in prenatal diagnosis AG Pavel, A Ursuleanu, L Dimos, A Tutulan-Cunita, D Stambouli EUROPEAN JOURNAL OF HUMAN GENETICS 27, 878-879, 2019 | | 2019 |
Cauzele genetice ale avortului spontan precoce. D Stambouli, M Becleanu, L Dimoș, A Pavel, A Tutulan-Cuniță Medic. ro 121 (1), 2018 | | 2018 |
Genomic imbalances identified by array CGH in cases with chromosomal mosaicisms L Dimos, A Pavel, R Achim, F Nedelea, V Plaiasu, R Simion, D Stambouli CHROMOSOME RESEARCH 23, S71-S71, 2015 | | 2015 |
Our first results of targeted array CGH in prenatal diagnosis A Pavel, L Dimos, F Nedelea, V Plaiasu, MR Simion, D Stambouli International Congress of Geneticists and Breeders from the Republic of …, 2015 | | 2015 |