Výsledky vyhledávání - "Violeta Martiniuc"

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Autor: Roxana Popescu, Mihaela Grămescu, Lavinia Caba, Monica-Cristina Pânzaru, Lăcrămioara Butnariu, Elena Braha, Setalia Popa, Cristina Rusu, Georgeta Cardos, Monica Zeleniuc, Violeta Martiniuc, Cristina Gug, Luminiţa Păduraru, Maria Stamatin, Carmen C. Diaconu, Eusebiu Vlad Gorduza

Publikováno v: Genes, Vol 12, Iss 1957, p 1957 (2021)
Genes

We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turrice

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a9e67d95bacf6e8c60619b2b2a4201
https://www.mdpi.com/2073-4425/12/12/1957

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Polyploidy in First and Second Trimester Pregnancies in Romania - a Retrospective Study

Autor: Florin Burada, Mihaela Moldovan, Ioana Mozos, Cristina Gug, Violeta Martiniuc, Mihai Ioana, Adrian Ratiu, Anca-Lelia Riza, Eusebiu Vlad Gorduza

Publikováno v: Clinical laboratory. 66(4)

BACKGROUND Polyploidy is a rare lethal cytogenetic anomaly in pregnancies, generally leading to pregnancy termination. This study aims to compare first and second trimester polyploidy in pregnancies and describe the underlying mechanisms. METHODS A r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2ad4b02f98b27371ef30abfc01f561
https://pubmed.ncbi.nlm.nih.gov/32255304

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Campomelic dysplasia with dextrocardia and without sex-reversal

Autor: Eusebiu Vlad Gorduza, Violeta Martiniuc, Luminiţa Păduraru, Irina Resmeriţă, Monica Pânzaru, Oana Păvăloaia, Iolanda Augustin

Publikováno v: Archive of Clinical Cases. :16-22

Campomelic dysplasia (CD) is a very rare, sporadic, autosomal dominant syndrome. CD is characterized by an association of skeletal (bowed long bones, pelvis and chest abnormalities, eleven rib pairs) and extraskeletal abnormalities (facial dysmorphis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5ee814ba614c6990ad3edae8ee9f649
https://doi.org/10.22551/2017.14.0401.10088

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Prenatal diagnosis of triploidy in second trimester of pregnancy: a series of 4 cases over an eleven-year period / Diagnosticul prenatal al triploidiei în trimestrul al II-lea de sarcină: o serie de patru cazuri depistate în unsprezece ani

Autor: Demetra Socolov, Razvan Socolov, Eusebiu Vlad Gorduza, Elena Mihalceanu, Diana Popovici, Raluca Balan, Violeta Martiniuc

Publikováno v: Romanian Journal of Laboratory Medicine, Vol 23, Iss 2, Pp 213-220 (2015)

Triploidia este o anomalie cromosomică numerică, caracterizată prin prezenţa a trei seturi haploide de cromosomi. Incidenţa triploidiei este dificil de evaluat, deoarece de obicei produce avort spontan în primul trimestru de sarcină. Incidenţ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::298b01a654a61fec2eb68cf55e091efa
https://doaj.org/article/8d6b3bd085e241d5971ecf1fe4ee5d88

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Prenatal diagnosis of 21 trisomy by quantification of methylated fetal DNA in maternal blood: study on 10 pregnancies

Autor: Florina Nedelea, Lavinia Caba, Iuliu Ivanov, Mariela Militaru, Eusebiu Vlad Gorduza, Roxana Popescu, Violeta Martiniuc, Demetra Socolov

Publikováno v: Romanian Journal of Laboratory Medicine, Vol 21, Iss 3, Pp 275-284 (2013)

Introducere. Sindromul Down este o boală gravă, lipsită de terapie patogenică. Singurele posibilităţi de reducere a consecinţelor bolii le reprezintă screeningul şi diagnosticul prenatal. Standardul de aur în diagnosticul prenatal este anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82002686017f5edab6d6a380dec1a2a8
https://doaj.org/article/3cd1bc6818b64317bd7999a38caad1fe

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Self-oocyte activation and parthenogenesis: an unusual outcome of a misconducted IVF cycle

Autor: Razvan Socolov, Stefano Angioni, Violeta Martiniuc, Vlad Gorduza, Thomas Ebner, Demetra Socolov

Publikováno v: Gynecological Endocrinology. 31:529-530

A rare cause of infertility is the lack of fertilisation with the spontaneous activation of oocytes, leading to parthenogenesis. We present such a case. The patient was a G1P0 38-year-old woman of African ethnicity, who requested an in vitro fertilis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b64a77d95c3c82f3f7fd0e620bfa7cef
https://doi.org/10.3109/09513590.2015.1062861

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Phenotypic variability in Patau syndrome

Autor: Lavinia, Caba, Cristina, Rusu, Lacramioara, Butnariu, Monica, Panzaru, Elena, Braha, M, Volosciuc, Roxana, Popescu, Mihaela, Gramescu, C, Bujoran, Violeta, Martiniuc, M, Covic, E V, Gorduza

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 117(2)

Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly. Most frequent cytogenetic abnormality is free and homogeneous trisomy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::309ce8092a8a8c076ee6c2713bfc7333
https://pubmed.ncbi.nlm.nih.gov/24340511

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Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases

Autor: Elena, Braha, Violeta, Martiniuc, Monica, Panzaru, Lavinia, Caba, Lăcrămioara, Butnariu, M, Onofriescu, Demetra, Socolov, Mihaela, Grigore, D, Nemescu, Elena, Mihălceanu, G, Iliev, E V, Gorduza

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 117(2)

Prenatal diagnosis (PD) by FISH or cell culture is today an important tool for the prevention of chromosomal anomalies. A difficult issue is prenatal detection of gonosomal anomalies. Most gonosomal anomalies neither affect life expectancy nor cause

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eb1e664a5acc464cc250df55668a9423
https://pubmed.ncbi.nlm.nih.gov/24340530

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[Performance of different methods of estimating risk screening for chromosomal anomalies]

Autor: Maria-Cristina, Avătăjitei, Mihaela, Moscalu, Violeta, Martiniuc, M, Onofriescu

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 116(2)

In the last 10 years, several studies have been carried out on additional ultrasound markers in the first trimester of pregnancy in order to improve detection rate of fetal numerical chromosome abnormalities (aneuploidy) and to reduce the rate of fal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::71c7b61c8524519a4cf0a0b3d39a7c87
https://pubmed.ncbi.nlm.nih.gov/23077946

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