Výsledky vyhledávání - "Adriana S. Cosma"

TET2 rs1548483 SNP Associating with Susceptibility to Molecularly Annotated Polycythemia Vera and Primary Myelofibrosis

Publikováno v: Journal of Personalized Medicine
Volume 10
Issue 4
Journal of Personalized Medicine, Vol 10, Iss 259, p 259 (2020)

Background: The complexity of myeloproliferative neoplasms (MPNs) cannot be characterized by acquired somatic mutations alone. Individual genetic background is thought to contribute to the development of MPNs. The aim of our study was to assess the a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f06b3e7dce539430425063ab00c6c5d2

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Association Analysis of TP53 rs1042522, MDM2 rs2279744, rs3730485, MDM4 rs4245739 Variants and Acute Myeloid Leukemia Susceptibility, Risk Stratification Scores, and Clinical Features: An Exploratory Study

Autor: Adrian P. Trifa, Florin Tripon, Alina Bogliş, Erzsébet Lázár, Delia Dima, Claudia Bănescu, Marcela Candea, Mihaela Iancu, Laura Jimbu, Beata Balla, Adriana S. Cosma, George Andrei Crauciuc

Publikováno v: Journal of Clinical Medicine, Vol 9, Iss 1672, p 1672 (2020)
Journal of Clinical Medicine
Volume 9
Issue 6

This study aimed to explore the associations between the TP53 rs1042522 (TP53 Arg72Pro), MDM2 rs2279744 (MDM2 309T>
G), rs3730485 (MDM2 del1518), MDM4 rs4245739 (MDM4 34091 C>
A) variants and odds of developing acute myeloid leukemia (A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d17121e5d9a13895bec542f1abd2b630
https://www.mdpi.com/2077-0383/9/6/1672

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Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability

Autor: Alina Bogliş, Florin Tripon, Adriana S. Cosma, Claudia Bănescu

Publikováno v: Medicine. 99:e21632

INTRODUCTION The oligophrenin-1 (OPHN1) gene, localized on the X chromosome, is a Rho-GTPase activating protein that is related to syndromic X-linked intellectual disability (XLID). XLID, characterized by brain anomalies, namely cerebellar hypoplasia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::440fc1c27bb1757f26d1a9f62750ccbc
https://doi.org/10.1097/md.0000000000021632

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