Výsledky vyhledávání - "E V, Gorduza"

The unfinished war – microorganisms against humans SARS-CoV-2 – the enemy from nowhere

Autor: E. V. Gorduza

Publikováno v: Revista Medico-Chirurgicala. 125:321-326

Throughout history, humanity was confronted with many epidemics which were generated by different types of microorganisms: parasites, bacteria or viruses. However, in the last two centuries the fight against these invisible enemies has advanced throu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4435c9ddb793cf16f9840a509f20757f
https://doi.org/10.22551/msj.2021.03.01

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ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES

Autor: Georgeta Camelial, Cozaru, Mariana, Aşchie, Anca Florentina, Mitroi, I, Poinăreanu, E V, Gorduza

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 120(1)

Neurodegenerative diseases, such as Alzheimer's dementia, Huntington's chorea, Parkinson's disease or spinocerebellar ataxia, manifests into adulthood with an insidious onset, slowly of progressive symptoms. All of these diseases are characterized by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::42255507606e53400a5c9a27cb357e67
https://pubmed.ncbi.nlm.nih.gov/27125067

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Hand, foot and mouth disease--outbreak in Romania?

Autor: Anca, Chiriac, Liliana, Foia, Sonia, Nanescu, Florina, Filip, C, Solovan, E V, Gorduza

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 117(1)

Hand, foot and mouth disease (HFMD) is a viral illness usually occurring during the summer months in children younger than 5 years of age. In the North-East area of Romania the incidence is usually low, each dermatologist reporting 1-2 cases or even

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f077dfa834b9afa9cf6a6eabf4a331b5
https://pubmed.ncbi.nlm.nih.gov/24505914

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Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature

Autor: Lăcrămioara, Butnariu, Cristina, Rusu, Lavinia, Caba, Monica, Pânzaru, Elena, Braha, Mihaela, Grămescu, Roxana, Popescu, C, Bujoranu, E V, Gorduza

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 117(3)

Trisomy X (47,XXX) is a gonosomal aneuploidy characterized by the presence of an extra X chromosome in a female person. Usually the diagnosis is established made postnatally by chromosome analysis in patients with suggestive clinical signs. Clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a5e8acf4411a03ec7ae2f7bc07b782ad
https://pubmed.ncbi.nlm.nih.gov/24502039

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Inverted duplication deletion of 8P: characterization by standard cytogenetic and SNP array analyses

Autor: Adriana, Sireteanu, Elena, Braha, Roxana, Popescu, Mihaela, Gramescu, E V, Gorduza, Cristina, Rusu

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 117(3)

Inverted 8p duplication deletions are recurrent chromosomal rearrangements that most often arise through non-allelic homologous recombination (NAHR) during maternal meiosis between segmental duplications made up of the olfactory receptor (OR) gene cl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fe8c7f745ae40240c85c10867776f95e
https://pubmed.ncbi.nlm.nih.gov/24502041

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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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[Array CGH: technical considerations and applications]

Autor: Adriana, Sireteanu, M, Covic, E V, Gorduza

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

During the past ten years a particular molecular technology - array comparative genomic hybridization (aCGH)--has received a great deal of attention. Array CGH can detect simultaneously sub-microscopic copy number changes across the whole genome, thu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1a4ca1c63010ac943703e84b3f1b5400
https://pubmed.ncbi.nlm.nih.gov/23077951

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[Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome]

Autor: Monica, Pânzaru, Cristina, Rusu, M, Voloşciuc, Elena, Braha, Lăcrămioara, Butnariu, I, Ivanov, Mihaela, Grămescu, Roxana, Popescu, Lavinia, Caba, Adriana, Sireteanu, M, Macovei, M, Covic, E V, Gorduza

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 115(3)

Velo-Cardio-Facial Syndrome (VCFS) is characterized by congenital heart defects (CHD), palatal abnormalities, facial dysmorphism, neonatal hypocalcemia, immune deficit, speech and learning disabilities. SVCF is caused by microdeletion 22q11.2. Microd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bf77c926008d296f55274af949008b77
https://pubmed.ncbi.nlm.nih.gov/22046783

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[Chromosomal evaluation in couples with reproductive disorders--retrospective study of a selected group of 266 couples]

Autor: Lăcrămioara, Butnariu, M, Covic, M, Onofriescu, Mihaela, Grămescu, C, Bujoran, Lavinia, Caba, E V, Gorduza

Publikováno v: Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi. 114(4)

Reproductive Disorders (RD), manifested by the biological inability to conceive (primary sterility) or inability to carry a pregnancy to full-term (infertility), affect 10-15% of reproductive-aged couples. The genetic etiology of RD is represented, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fd2e574f8c5d84d7f99cf2810a2f8709
https://pubmed.ncbi.nlm.nih.gov/21500467

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