Works matching DE "GENETICS of thalassemia"

Results: 116

Molecular genetics of beta-thalassaemia syndrome in Pakistan.

Published in:

Eastern Mediterranean Health Journal, 2010, v. 16, n. 9, p. 972, doi. 10.26719/2010.16.9.972

By:

Usman, M.;
Moinuddin, M.;
Ghani, R.

Publication type:

Article

Deferasirox-induced serious adverse reaction in a pediatric patient: pharmacokinetic and pharmacogenetic analysis.

Published in:

2016

By:

Marano, M.;
Bottaro, G.;
Goffredo, B.;
Stoppa, F.;
Pisani, M.;
Marinaro, A.;
Deodato, F.;
Dionisi-Vici, C.;
Clementi, E.;
Falvella, F.

Publication type:

Letter

Modification of CYP2E1 and CYP3A4 activities in haemoglobin E-beta thalassemia patients.

Published in:

European Journal of Clinical Pharmacology, 2007, v. 63, n. 1, p. 43, doi. 10.1007/s00228-006-0224-x

By:

Somparn, Nuntiya;
Kukongviriyapan, Upa;
Tassaneeyakul, Wichittra;
Jetsrisuparb, Arunee;
Kukongviriyapan, Veerapol

Publication type:

Article

Determination of mitogen-triggered proliferation responses of thalassemia major patients treated with bone marrow transplantation.

Published in:

Turkish Journal of Immunology, 2016, v. 4, p. 74

By:

Kucuksezer, Umut Can;
Tahrali, Ilhan;
Deniz, Gunnur;
Nepesov, Serdar;
Camcioglu, Yildiz;
Yesilipek, Akif

Publication type:

Article

Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.

Published in:

Application of Clinical Genetics, 2017, v. 10, p. 27, doi. 10.2147/TACG.S127531

By:

Shah, Parth S.;
Shah, Nidhi D.;
Ray, Hari Shankar P.;
Khatri, Nikunj B.;
Vaghasia, Ketan K.;
Raval, Rutvik J.;
Shah, Sandip C.;
Rao, Mandava V.

Publication type:

Article

Diagnosis of Hb-pathies.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 672, doi. 10.1038/sj.ejhg.5200885

By:

Giordano, P C

Publication type:

Article

Nucleotide changes in the γ-globin promoter and the (AT)xNy(AT)z polymorphic sequence of βLCRHS-2 region associated with altered levels of HbF.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 345, doi. 10.1038/sj.ejhg.5200284

By:

Samakoglu, Selda;
Philipsen, Sjaak;
Grosveld, Frank;
Lüleci, Güven;
Bagci, Hüseyin

Publication type:

Article

A complex haemoglobinopathy diagnosis in a family with both βo- and αo/+-thalassaemia homozygosity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 163, doi. 10.1038/sj.ejhg.5200281

By:

Giordano, P C;
Harteveld, C L;
Bok, L A;
van Delft, P;
Batelaan, D;
Beemer, F A;
Bernini, L F

Publication type:

Article

Thalassemia: the long road from the bedside through the laboratory to the community.

Published in:

Nature Medicine, 2010, v. 16, n. 10, p. 1112, doi. 10.1038/nm1010-1112

By:

Weatherall, David

Publication type:

Article

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Published in:

Nature Genetics, 2011, v. 43, n. 4, p. 295, doi. 10.1038/ng.785

By:

Giardine, Belinda;
Borg, Joseph;
Higgs, Douglas R.;
Peterson, Kenneth R.;
Philipsen, Sjaak;
Maglott, Donna;
Singleton, Belinda K.;
Anstee, David J.;
Basak, A. Nazli;
Clark, Barnaby;
Costa, Flavia C.;
Faustino, Paula;
Fedosyuk, Halyna;
Felice, Alex E.;
Francina, Alain;
Galanello, Renzo;
Gallivan, Monica V. E.;
Georgitsi, Marianthi;
Gibbons, Richard J.;
Giordano, Piero C.

Publication type:

Article

Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.

Published in:

Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 7, p. 797, doi. 10.5858/arpa.2022-0168-OA

By:

Renliang Huang;
Yinyin Liu;
Jing Xu;
Dan Lin;
Aiping Mao;
Liuqing Yang;
Gaobu Zhong;
Huoniao Wang;
Ruofan Xu;
Yiwei Chen;
Qiaomiao Zhou

Publication type:

Article

Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.

Published in:

Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 3, p. 336, doi. 10.5858/arpa.2022-0299-OA

By:

Zhen Xu;
Lanping Hu;
Yinyin Liu;
Can Peng;
Guo Zeng;
Li Zeng;
Mengyue Yang;
Siyuan Linpeng;
Xiufen Bu;
Xuanyu Jiang;
Tiantian Xie;
Libao Chen;
Shihao Zhou;
Jun He

Publication type:

Article

Co-inheritance of compound heterozygous Hb Constant Spring and a single --α3.7 gene deletion with heterozygous δβ thalassaemia: A diagnostic challenge.

Published in:

Malaysian Journal of Pathology, 2012, v. 34, n. 1, p. 57

By:

Azma, Raja Zahratul;
Othman, Ainoon;
Azman, Norazlina;
Alauddin, Hafiza;
Ithnin, Azlin;
Yusof, Nurasyikin;
Razak, Noor Farisah;
Sardi, Nor Hidayati;
Hussin, Noor Hamidah

Publication type:

Article

Genetic risk assessment and haemoglobinopathy counselling: two case studies.

Published in:

British Journal of Midwifery, 2019, v. 27, n. 12, p. 790, doi. 10.12968/bjom.2019.27.12.790

By:

Bennett-Day, Sarah

Publication type:

Article

Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/687635

By:

Breveglieri, Giulia;
Mancini, Irene;
Bianchi, Nicoletta;
Lampronti, Ilaria;
Salvatori, Francesca;
Fabbri, Enrica;
Zuccato, Cristina;
Cosenza, Lucia C.;
Montagner, Giulia;
Borgatti, Monica;
Altruda, Fiorella;
Fagoonee, Sharmila;
Carandina, Gianni;
Rubini, Michele;
Aiello, Vincenzo;
Breda, Laura;
Rivella, Stefano;
Gambari, Roberto;
Finotti, Alessia

Publication type:

Article

Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/517679

By:

Farra, Chantal;
Daher, Rose;
Badra, Rebecca;
el Rafei, Rym;
Bejjany, Rachelle;
Charafeddine, Lama;
Yunis, Khalid

Publication type:

Article

Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential.

Published in:

Frontiers in Oncology, 2018, p. 1, doi. 10.3389/fonc.2017.00322

By:

He, Jenny;
Mansouri, Alireza;
Das, Sunit

Publication type:

Article

Response to Tang et al.

Published in:

2012

By:

Bouva, Marelle;
Elvers, Bert;
Schielen, Peter

Publication type:

Letter

Newborn screening for α-thalassaemia by a capillary electrophoresis method.

Published in:

2012

By:

Hai-Shen Tang;
Jian-Ying Zhou;
Xing-Mei Xie;
Dong-Zhi Li

Publication type:

Letter

Response to Goodness et al.

Published in:

2012

By:

Bouva, Marelle;
Elvers, Bert;
Schielen, Peter

Publication type:

Letter

Reply: Relationship between neonatal screening results by high-performance liquid chromatography and the number of alpha-thalassaemia gene mutations: consequences for the cut-off.

Published in:

2012

By:

Goodness, Susan;
Cavanagh, Kevin;
Young, William;
Shurney, Wanda

Publication type:

Letter

Impact on informed choice of offering antenatal sickle cell and thalassaemia screening in primary care: a randomized trial.

Published in:

Journal of Medical Screening, 2011, v. 18, n. 2, p. 65, doi. 10.1258/jms.2011.010132

By:

Brown, Katrina;
Dormandy, Elizabeth;
Reid, Erin;
Gulliford, Martin;
Marteau, Theresa

Publication type:

Article

Anemia in pregnancy: Think beyond iron deficiency.

Published in:

Indian Journal of Medical Specialities, 2019, v. 10, n. 2, p. 111, doi. 10.4103/INJMS.INJMS_13_19

By:

Memon, Faisal;
Londhey, Vikram;
Nagara, Raju

Publication type:

Article

THALASSEMIA IN 'NON--MEDITERRANEAN' FAMILIES.

Published in:

Annals of Internal Medicine, 1960, v. 53, n. 3, p. 510, doi. 10.7326/0003-4819-53-3-510

By:

McFarland, William;
Pearson, Howard A.

Publication type:

Article

Alloimmunization and autoimmunization in transfusion dependent thalassemia major patients: Study on 319 patients.

Published in:

Asian Journal of Transfusion Science, 2014, v. 8, n. 2, p. 84, doi. 10.4103/0973-6247.137438

By:

Dhawan, Hari Krishan;
Kumawat, Vijay;
Marwaha, Neelam;
Sharma, Ratti Ram;
Sachdev, Suchet;
Bansal, Deepak;
Marwaha, Ram Kumar;
Arora, Satyam

Publication type:

Article

The Contribution of Extramedullary Hematopoiesis to Hepatomegaly in Anemic Hydrops Fetalis: A Study in Alpha-Thalassemia Hydrops Fetalis.

Published in:

Pediatric & Developmental Pathology, 2012, v. 15, n. 3, p. 206, doi. 10.2350/11-12-1126-OA.1

By:

Taweevisit, Mana;
Thorner, Paul S.

Publication type:

Article

The First Report of a Homozygous Codons 9/10 (+T) β-Thalassemia Mutation in a Turkish Patient.

Published in:

Hemoglobin, 2015, v. 39, n. 1, p. 66, doi. 10.3109/03630269.2014.982255

By:

Unal, Sule;
Chui, David H.K.;
Luo, Hong-Yuan;
Okur, Hamza;
Oymak, Yesim;
Gumruk, Fatma

Publication type:

Article

Cardiomyopathy Associated with Iron Overload: How Does Iron Enter Myocytes and What are the Implications for Pharmacological Therapy?

Published in:

Hemoglobin, 2015, v. 39, n. 1, p. 9, doi. 10.3109/03630269.2014.987869

By:

Wijarnpreecha, Karn;
Kumfu, Sirinart;
Chattipakorn, Siriporn C.;
Chattipakorn, Nipon

Publication type:

Article

Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region ( HBB: c.*+118A > G) in Spain.

Published in:

Hemoglobin, 2015, v. 39, n. 1, p. 30, doi. 10.3109/03630269.2014.995805

By:

Herrera, Maria Ascensión;
De La Fuente-Gonzalo, Félix;
González, Fernando Ataúlfo;
Nieto, Jorge M.;
Dominguez, Alejandra Blum;
Villegas, Ana;
Ropero, Paloma

Publication type:

Article

Characterization of Hb Lepore Variants in the UK Population.

Published in:

Hemoglobin, 2015, v. 39, n. 1, p. 58, doi. 10.3109/03630269.2014.988347

By:

Guo, Lina;
Kausar, Anika;
Old, John M.;
Henderson, Shirley J.;
Gallienne, Alice E.

Publication type:

Article

Molecular and Cellular Characterization of a New α-Thalassemia Mutation (HBA2:c.94A>C) Generating an Alternative Splice Site and a Premature Stop Codon.

Published in:

Hemoglobin, 2012, v. 36, n. 3, p. 244, doi. 10.3109/03630269.2012.670683

By:

Qadah, Talal;
Finlayson, Jill;
Newbound, Christopher;
Pell, Nicole;
Pascoe, Michelle;
Greenwood, Laura;
Holmes, Paula;
Grey, Dianne;
Beilby, John;
Ghassemifar, Reza

Publication type:

Article

A Novel Case of Hb Phnom Penh: Codons 117/118 (+ATC) as a Cause of α+-Thalassemia.

Published in:

Hemoglobin, 2012, v. 36, n. 3, p. 289, doi. 10.3109/03630269.2012.665402

By:

Zhai, Yin-Sheng;
Tang, Hai-Shen;
Zhou, Jian-Ying;
Li, Dong-Zhi

Publication type:

Article

Nonsense β-Thalassemia Mutation at Codon 37 (TG G>TG A), Detected for the First Time in Three Turkish Cases.

Published in:

Hemoglobin, 2012, v. 36, n. 3, p. 283, doi. 10.3109/03630269.2012.662197

By:

Bozdogan, Sevcan Tug;
Unsal, Cagatay;
Erkman, Hakan;
Genc, Ahmet;
Yuregir, Ozge Ozalp;
Muslumanoglu, Muhammed Hamza;
Aslan, Huseyin

Publication type:

Article

Molecular Lesion Frequency Of Hemoglobin Gene Disorders In Taiwan.

Published in:

Hemoglobin, 2011, v. 35, n. 3, p. 228, doi. 10.3109/03630269.2011.572524

By:

Liu, Su-Ching;
Peng, Ching-Tien;
Lin, Tsai-Hsiu;
Wang, Shiow-Jain;
Shih, Mu-Chin;
Tien, Ni;
Chang, Chao-Chin;
Lu, Jang-Jih;
Lin, Chien-Yu

Publication type:

Article

Phenotypic Expression and Origin of the Rare β-Thalassemia Splice Site Mutation HBB:c.315 + 1G>T.

Published in:

Hemoglobin, 2010, v. 34, n. 3, p. 322, doi. 10.3109/03630269.2010.484956

By:

Broquere, Cédrick;
Brudey, Karine;
Harteveld, Cornelis L.;
Saint-Martin, Christian;
Elion, Jacques;
Giordano, Piero C.;
Romana, Marc

Publication type:

Article

Iron Chelation Therapy in Hereditary Hemochromatosis and Thalassemia Intermedia: Regulatory and Non Regulatory Mechanisms of Increased Iron Absorption.

Published in:

Hemoglobin, 2010, v. 34, n. 3, p. 251, doi. 10.3109/03630269.2010.486335

By:

Kontoghiorghes, George J.;
Spyrou, Aspasia;
Kolnagou, Annita

Publication type:

Article

Detection of β-Thalassemia Mutations Using a Multiplex Amplification Refractory Mutation System Assay.

Published in:

Hemoglobin, 2008, v. 32, n. 4, p. 403, doi. 10.1080/03630260701798391

By:

Mirasena, Saisiri;
Shimbhu, Dawan;
Sanguansermsri, Mondhon;
Sanguansermsri, Torpong

Publication type:

Article

An α0-Thalassemia-Like Mutation: Hb Suan-Dok [α109(G16)Leu→Arg] Carried by a Recombinant -α3.7 Gene.

Published in:

Hemoglobin, 2008, v. 32, n. 4, p. 419, doi. 10.1080/03630260802173619

By:

Moradkhani, Kamran;
Mazurier, Elodie;
Giordano, Piero C.;
Wajcman, Henri;
Préhu, Claude

Publication type:

Article

The Codons 8/9 (+G) Mutation Found for the First Time in the Lebanese Population.

Published in:

Hemoglobin, 2003, v. 27, n. 1, p. 1, doi. 10.1081/HEM-120018430

By:

Zalloua, Pierre A.;
Aoun, Elie;
Koussa, Suzanne;
Asfahani, Wissam S.Z.;
Taher, Ali

Publication type:

Article

Hb Lepore in the Indian Population.

Published in:

Hemoglobin, 2003, v. 27, n. 1, p. 7, doi. 10.1081/HEM-120018431

By:

Shaji, Ramachandran V.;
Edison, Eunice Sindhuvi;
Krishnamoorthy, Rajagopal;
Chandy, Mammen;
Srivastava, Alok

Publication type:

Article

A NOVEL β0-THALASSEMIA MUTATION AT CODON 55 (-A) AND A RARE 17 bp DELETION AT CODONS 126–131 IN THE INDIAN POPULATION.

Published in:

Hemoglobin, 2002, v. 26, n. 1, p. 41, doi. 10.1081/HEM-120002939

By:

Nadkarni, Anita;
Sakaguchi, Takehisa;
Takaku, Hiroshi;
Gorakshakar, Ajit;
Phanasgaonkar, Supriya;
Colah, Roshan B.;
Mohanty, Dipika;
Kiyama, Ryoiti

Publication type:

Article

A NOVEL β-THALASSEMIA MUTATION IN AN ASIAN INDIAN.

Published in:

Hemoglobin, 2002, v. 26, n. 1, p. 49, doi. 10.1081/HEM-120002940

By:

Shaji, Ramachandran V.;
Gerard, Nathalie;
Krishnamoorthy, Rajagopal;
Srivastava, Alok;
Chandy, Mammen

Publication type:

Article

THE β+-IVS-I-6 (T → C) MUTATION ACCOUNTS FOR HALF OF THE THALASSEMIA CHROMOSOMES IN THE PALESTINIAN POPULATIONS OF THE MOUNTAIN REGIONS.

Published in:

Hemoglobin, 2002, v. 26, n. 1, p. 33, doi. 10.1081/HEM-120002938

By:

El-Latif, Mahmoud Abd;
Filon, Dvora;
Rund, Deborah;
Oppenheim, Ariella;
Kanaan, Moien

Publication type:

Article

Hb SIAM [α15(A13)Gly → Arg (α1) (GGT → CGT)] IS A TYPICAL α CHAIN HEMOGLOBINOPATHY WITHOUT AN α-THALASSEMIC EFFECT.

Published in:

Hemoglobin, 2002, v. 26, n. 1, p. 77, doi. 10.1081/HEM-120002944

By:

Turbpaiboon, Chairat;
Svasti, Saovaros;
Sawangareetakul, Phannee;
Winichagoon, Pranee;
Srisomsap, Chantragan;
Siritanaratkul, Noppadol;
Fucharoen, Suthat;
Wilairat, Prapon;
Svasti, Jisnuson

Publication type:

Article

IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (-2) (A → C).

Published in:

Hemoglobin, 2002, v. 26, n. 1, p. 87, doi. 10.1081/HEM-120002946

By:

Waye, John S.;
Walker, Lynda;
Patterson, Margaret;
Chui, David H. K.

Publication type:

Article

Association of genetic variations in the mitochondrial D-loop with β-thalassemia.

Published in:

Mitochondrial DNA. Part A, 2016, v. 27, n. 3, p. 1693, doi. 10.3109/19401736.2014.958730

By:

Jamali, Leila;
Banoei, Mohammad Mehdi;
Khalili, Elham;
Dadgar, Sepideh;
Houshmand, Massoud

Publication type:

Article

Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: a qualitative study of women's experiences and expectations of participation.

Published in:

Health Expectations, 2012, v. 15, n. 2, p. 115, doi. 10.1111/j.1369-7625.2011.00669.x

By:

Tsianakas, Vicki;
Atkin, Karl;
Calnan, Michael W.;
Dormandy, Elizabeth;
Marteau, Theresa M.

Publication type:

Article

β-Thalassaemia and its Co-existence with Haemoglobin E and Haemoglobin S in Upper Assam Region of North Eastern India: A Hospital Based Study.

Published in:

Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 4, p. 1, doi. 10.7860/JCDR/2016/16265.7675

By:

TELI, ANJU BARHAI;
DEORI, RUMI;
SAIKIA, SIDHARTHA PROTIM;
HAK, KALYANI PAT;
PANYANG, RITA;
RAJKAKATI, RASHMI

Publication type:

Article

NOTICE BOARD.

Published in:: 2014
Publication type:: Journal Article

Diagnosis of hemogobinopathies in the clinical laboratory: an occult Hofu hemoglobin on HPLC.

Published in:

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, 2025, v. 6, n. 2, p. 213, doi. 10.1515/almed-2024-0175

By:

Urroz, Maitane Echeverría;
Delgado, Ana Isabel López;
Conejero, Raquel Oliveros;
Nistal, David Álvarez

Publication type:

Article