Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Faten Moassas"'
1
Akademický článek
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (−CT) (HBB: c.17_18delCT) and δ-globin CD 59 (−a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia
Autor: Faten Moassas, Mohamad Sayah Nweder, Hossam Murad
Publikováno v: BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)
Abstract Background Beta thalassemia (β-thal) is an inherited hemoglobin disorder characterized by reduced synthesis of the hemoglobin that results in microcytic hypochromic anemia. β-Thalassemia intermedia (TI) is a clinical term of intermediate g
Externí odkaz: https://doaj.org/article/16742a074f1049bdbcc465d290a3dc9a
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2
Akademický článek
A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family
Autor: Hossam Murad, Faten Moassas, Nour A. L. Fakseh
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
ABSTRACT Background CAP+1 [A>C] (HBB:c.‐50A>C) is a rare silent β‐thalassemia (β‐thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previousl
Externí odkaz: https://doaj.org/article/7296232119ce4a52aa7cb0f5567df1d3
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3
Akademický článek
A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report
Autor: Hossam Murad, Faten Moassas, Bashar Ali, Walid Alachkar
Publikováno v: Cogent Medicine, Vol 6, Iss 1 (2019)
Beta-thalassemia (β-thal) is an inherited hemoglobin disorder, characterized by the absence of or reduced hemoglobin chains that result in microcytic hypochromic anemia. In this case, we describe a patient case originating from Syria, and his hemato
Externí odkaz: https://doaj.org/article/46c2ef016cd543b49eed12d4b818bf52
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5
Haplotype Analysis of Three Common β-Thalassemia Mutations in Syrian Patients
Autor: Hossam Murad, Faten Moassas, Yasser Mukhalalaty, Ifad Ghoury
Publikováno v: Hemoglobin. 42:302-305
β-Globin haplotypes were used to investigate the origin of three common β-globin mutations, IVS-I-110 (GA); HBB: c.93-21GA, IVS-I-1 (GA); HBB: c.92 + 1GA and codon 39 (CT); HBB: c.118C T in Syrian patients. Haplotype analysis was done for 49 unrela
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9d922e6131d4258350cb2a4d9ce272f
https://doi.org/10.1080/03630269.2018.1553789
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6
First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family
Autor: Faten Moassas, Hossam Murad
Publikováno v: Hemoglobin. 43:66-68
We describe a proband originating from Al-Quneitra Province, Syria. His hematology data was as follows: Hb A 24.7%, Hb F 71.1%, Hb A2 4.2%. Molecular analysis, based on DNA sequencing of the β-globin gene mutation, showed for the first time a compou
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75091168e4334c00c13979b87c4fea51
https://doi.org/10.1080/03630269.2019.1577254
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7
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (−CT) (HBB: c.17_18delCT) and δ-globin CD 59 (−a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia
Autor: Hossam Murad, Faten Moassas, Mohamad Sayah Nweder
Publikováno v: BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)
BMC Pediatrics
Background Beta thalassemia (β-thal) is an inherited hemoglobin disorder characterized by reduced synthesis of the hemoglobin that results in microcytic hypochromic anemia. β-Thalassemia intermedia (TI) is a clinical term of intermediate gravity be
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dabd50eb871de01d1974fc64dbfe236b
https://doi.org/10.1186/s12887-019-1435-5
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8
A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report
Autor: Walid Al-Achkar, Faten Moassas, Bashar Ali, Hossam Murad
Publikováno v: Cogent Medicine, Vol 6, Iss 1 (2019)
Beta-thalassemia (β-thal) is an inherited hemoglobin disorder, characterized by the absence of or reduced hemoglobin chains that result in microcytic hypochromic anemia. In this case, we describe a patient case originating from Syria, and his hemato
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6ab50445f1d09e3b10d02c44ee647bf
https://doaj.org/article/46c2ef016cd543b49eed12d4b818bf52
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9
Description of a Rare β-Globin Gene Mutation: -86 (CG) (HBB: c.-136CG) Observed in a Syrian Family
Autor: Faten Moassas, Hossam Murad, Ayman Alabloog
Publikováno v: Hemoglobin. 42(3)
We present the description of a β-thalassemia (β-thal) -86 (CG) (HBB: c.-136CG) mutation in a Syrian family from Damascus, As-Suwayda Province, Syria, who was referred to the laboratory for prenatal diagnosis (PND). The mutation was found in the mo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cef56ca9fb816e373fd280872585c49
https://pubmed.ncbi.nlm.nih.gov/30173596
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10
Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population
Autor: Yasser Mukhalalaty, Hossam Murad, Rami A. Jarjour, Faten Moassas, Walid Al-Achkar
Publikováno v: Hemoglobin. 38:390-393
Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda5ac1091736f74a3509cc3c616d43a
https://doi.org/10.3109/03630269.2014.978455
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