Search Results - "Militaru, Mariela S."
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Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country
Published in Biomedicines (08-05-2023)“…In Romania, breast cancer (BC) is the most common malignancy in women. However, there is limited data on the prevalence of predisposing germline mutations in…”
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2
CALR versus JAK2 mutated essential thrombocythaemia - a report on 141 patients
Published in British journal of haematology (01-01-2015)Get full text
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3
The C677T Variant in the Methylenetetrahydrofolate Reductase Gene and Idiopathic Spontaneous Abortion in a Romanian Population Group
Published in Notulae scientia biologicae (22-02-2012)“…Spontaneous abortions (SA) are a major public health problem and a frequent pregnancy associated disorder. Hereditary thrombophilia and hyperhomocysteinemia…”
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The relationship between factor V Leiden, prothrombin G20210A, and MTHFR mutations and the first major thrombotic episode in polycythemia vera and essential thrombocythemia
Published in Annals of hematology (01-02-2014)“…Arterial and venous thrombosis are the most frequent complications in patients with polycythemia vera and essential thrombocythemia. We sought to demonstrate a…”
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5
Cytogenetic and fragile X testing in a group of Romanian autistic children
Published in Human & veterinary medicine (01-12-2015)“…Background: Extensive literature data report abnormalities involving all chromosomes, especially in autistic individuals with dysmorphic features and…”
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G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms
Published in Annals of hematology (01-10-2010)“…Polycythemia vera, essential thrombocythemia, and primary myelofibrosis are myeloproliferative neoplasms, characterized in a majority of cases by a unique…”
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7
TLR1 polymorphisms in Europeans and spontaneous pregnancy loss
Published in Gene (15-02-2012)“…Toll-like receptors (TLRs) are critical components of the pathogen recognition by the host innate immune system. Recently it has been shown that TLR1 is under…”
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Absence of BRAF V600E mutation in a cohort of 402 patients with various chronic and acute myeloid neoplasms
Published in Leukemia & lymphoma (01-12-2012)Get full text
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9
No association between the STAT5b rs6503691 (C>T) SNP and myeloproliferative neoplasms
Published in European journal of haematology (01-03-2013)Get full text
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10
Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A case report
Published in Journal of gastrointestinal and liver diseases : JGLD (01-06-2010)“…While classical hereditary haemochromatosis, usually associated with mutations in the HFE gene, has an adult age onset and a long, progressive evolution,…”
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Concomitant Myeloproliferative and Lymphoid Neoplasms in Two Patients Positive for JAK2 V617F Mutation. Case Report and Literature Review
Published in Indian journal of hematology & blood transfusion (01-09-2014)“…The coexistence of both myeloproliferative and lymphoproliferative neoplasms in the same patient is an uncommon finding. We report two patients who presented…”
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12
HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania
Published in Journal of gastrointestinal and liver diseases : JGLD (01-06-2012)“…HFE-associated haemochromatosis is one of the most frequent autosomal recessive disorders in the Caucasian population. Although most of the cases are…”
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13
CALR versus JAK 2 mutated essential thrombocythaemia – a report on 141 patients
Published in British journal of haematology (01-01-2015)Get full text
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14
CALR versus JAK2 mutated essential thrombocythaemia – a report on 141 patients
Published in British journal of haematology (01-01-2015)Get full text
Journal Article -
15
No association between the STAT 5b rs6503691 (C>T) SNP and myeloproliferative neoplasms
Published in European journal of haematology (01-03-2013)Get full text
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16
The G allele of the rs10974944 SNP, part of 46/1 haplotype, is strongly associated with V617F-positive myeloproliferative neoplasms
Published in Annals of hematology (27-04-2010)“…Polycythemia vera, essential thrombocythemia, and primary myelofibrosis are myeloproliferative neoplasms, characterized in a majority of cases by a unique…”
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Journal Article -
17
Concomitant Myeloproliferative and Lymphoid Neoplasms in Two Patients Positive for JAK2 V617F Mutation. Case Report and Literature Review
Published in Indian journal of hematology & blood transfusion (14-06-2013)“…The coexistence of both myeloproliferative and lymphoproliferative neoplasms in the same patient is an uncommon finding. We report two patients who presented…”
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Journal Article -
18
The C677T Variant in the Methylenetetrahydrofolate Reductase Gene and Idiopathic Spontaneous Abortion in a Romanian Population Group
Published in Notulae scientia biologicae (01-02-2012)“…Spontaneous abortions (SA) are a major public health problem and a frequent pregnancy associated disorder. Hereditary thrombophilia and hyperhomocysteinemia…”
Get full text
Journal Article -
19
Concomitant Myeloproliferative and Lymphoid Neoplasms in Two Patients Positive for JAK2 V617F Mutation. Case Report and Literature Review
Published in Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion (01-09-2014)Get full text
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