Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Laurentiu Camil BOHILTEA"'
Autor:
Elena Evelina STOICA, Laurentiu Camil BOHILTEA, Delia-Maria Gradinaru-FOMETESCU, Monica Mihaela CIRSTOIU
Publikováno v:
Modern Medicine, Vol 31, Iss 2, Pp 187-190 (2024)
Non-invasive prenatal testing (NIPT), since its introduction in 2011, has revolutionized prenatal screening, becoming widely used globally and replacing traditional screening methods in developed countries. The accuracy of NIPT in detecting aneuploid
Externí odkaz:
https://doaj.org/article/7b4455f8b9084622a5c6775a0dd23eee
Autor:
Evelina STOICA, Laurentiu Camil BOHILTEA, Adrian DUMITRU, Catalin ALIUS, Monica Mihaela CIRSTOIU
Publikováno v:
Modern Medicine, Vol 30, Iss 4, Pp 247-351 (2023)
Primary vaginal sarcoma is an extremely rare malignant condition within the field of gynecological pathologies. We present the case of a 53-year old patient with no history of gynecological issues or associated comorbidities who presented to our clin
Externí odkaz:
https://doaj.org/article/ebae47823f4f40b5b274ae40b1e23918
Autor:
Ina-Ofelia FOCSA, Andreea TUTULAN-CUNITA, Anca PAVEL, Diana PREPELITA, Diana BRATU, Laurentiu Camil BOHILTEA, Danae STAMBOULI
Publikováno v:
Modern Medicine, Vol 29, Iss 3, Pp 187-192 (2022)
Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the
Externí odkaz:
https://doaj.org/article/1dd78e45f13e416b9056a3a0a859ffea
Autor:
Andrei Kozma, Doriana Agop Forna, Viorica Radoi, Radu Ursu, Agnes Katalin Lackner, Laurentiu Camil Bohiltea, Horia Lazarescu
Publikováno v:
Romanian Journal of Stomatology, Vol 65, Iss 2, Pp 97-100 (2019)
Defective enamel formation may result either from factors of environmental origin or from genetic abnormality. Such genetically determined enamel malformations have been described in patients with chromosomal anomalies and with inherited single gene
Externí odkaz:
https://doaj.org/article/27904ada8362456e92183ec672e5b106
Autor:
Iasi Pharmacy, Radu Ursu, Agnes Katalin Lackner, Viorica Radoi, Andrei Kozma, Bucharest Balneoclimatology, Doriana Agop Forna, Horia Lăzărescu, Laurentiu Camil Bohiltea, Bucharest Pharmacy
Publikováno v:
Romanian Journal of Stomatology, Vol 65, Iss 2, Pp 97-100 (2019)
Defective enamel formation may result either from factors of environmental origin or from genetic abnormality. Such genetically determined enamel malformations have been described in patients with chromosomal anomalies and with inherited single gene
Autor:
Iasi Pharmacy, Doriana Agop Forna, Andrei Kozma, Viorica Radoi, Laurentiu Camil Bohiltea, Bucharest Pharmacy, Radu Ursu, Ana Maria Alexandra Stănescu
Publikováno v:
Romanian Medical Journal, Vol 65, Iss 4, Pp 258-260 (2018)
Dental development is part of the craniofacial organogenesis, starting from the pluripotent cephalic neural crest cells, continuing with their movement towards the first pharyngeal arch and leading to the development of many elements of the craniofac
Publikováno v:
Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara, Vol 15, Iss 2, Pp 41-44 (2016)
Lactic acidosis, hypertrophic cardiomyopathy, muscle weakness and central nervous system impairment could rise suspicion of a mitochondrial disease. Its clinical complexity makes diagnostic process often difficult. While the gravity can range from mi
Autor:
Viorica-Elena Rădoi, Mihaela Țurcan, Ovidiu Virgil Maioru, Andra Dan, Laurentiu Camil Bohîlțea, Elena Adriana Dumitrescu, Adelina Silvana Gheorghe, Dana Lucia Stănculeanu, Georgia Thodi, Yannis L. Loukas, Ileana-Delia Săbău
Publikováno v:
Diagnostics, Vol 13, Iss 11, p 1896 (2023)
The Homologous Recombination Deficiency (HRD) Score, determined by evaluating genomic instability through the assessment of loss of heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST), serves as a crucial
Externí odkaz:
https://doaj.org/article/0d80e79342bd413eab1fde2a20e8fcf4
Publikováno v:
Maedica. 6(3)
The obstetric care of a pregnancy, as it is practiced today, includes non-invasive screening approaches as well as invasive procedures for the definitive prenatal diagnosis of fetal disorders correlations between indications for prenatal cytogenetic
Autor:
Daniela, Neagos, Ruxandra, Cretu, Andreea, Tutulan-Cunita, Veronica, Stoian, Laurentiu Camil, Bohiltea
Publikováno v:
Maedica. 5(4)
There is evidence that the polymorphisms of the genes involved in folate metabolism may be associated with higher risk of Down syndrome (DS) pregnancy. The aim of the present study was to investigate the effect of A80G polymorphism in reduced folate