Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias

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Items 301–400 of 692

1. Noninvasive prenatal diagnosis for pregnancies at risk for β‐thalassaemia: a retrospective study
   Weigang Lv, Siyuan Linpeng, Zhuo Li, Desheng Liang, Z Jia, D Meng, DS Cram, H Zhu, Y Teng, Aihua Yin et al. · 2020 · BJOG An International Journal of Obstetrics & Gynaecology
2. Haemoglobin C and S in natural selection against Plasmodium falciparum malaria: a plethora or a single shared adaptive mechanism?
   Federica Verra, Germana Bancone, Pamela Avellino, Isa Blot, Jacques Simporè, David Modiano · 2007 · PubMed
3. Analysis of alpha hemoglobin stabilizing protein overexpression in murine β‐thalassemia
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4. Classification in Anatomic Pathology
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5. An Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production
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   Frédéric B. Piel, Rosalind E. Howes, Oscar A. Nyangiri, Catherine L. Moyes, Thomas Neil Williams, David John Weatherall, Simon Iain Hay · 2013 · Human Mutation
7. Alpha-Thalassemia: Diversity of Clinical Phenotypes and Update on the Treatment
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8. The effects of curcumin on hepatic T2*MRI and liver enzymes in patients with β‐thalassemia major: a double‐blind randomized controlled clinical trial
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9. Development and characterization of K562 cell clones expressing BCL11A-XL: Decreased hemoglobin production with fetal hemoglobin inducers and its rescue with mithramycin
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10. Utility Of The Multivariate Approach In Predicting β-Thalassemia Intermedia Or β-Thalassemia Major Types In Iranian Patients
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11. Why Disease Persists: An Evolutionary Nosology
    Robert L. Perlman · 2005 · Medicine Health Care and Philosophy
12. Thalassemia: the long road from the bedside through the laboratory to the community
    David John Weatherall · 2010 · Nature Medicine
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14. Delayed decline of γ‐globin expression in infant age associated with the presence of Gγ−158 (C→T) polymorphism
    Michela Grosso, Maria Amendolara, G. RESCIGNO, Paolo Danise, Nicola Todisco, Paola Izzo, Giovanni Amendola · 2007 · International Journal of Laboratory Hematology
15. Haemoglobin and the Inherited Disorders of Globin Synthesis
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16. Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management
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19. Genetic determinants related to pharmacological induction of foetal haemoglobin in transfusion-dependent HbE-β thalassaemia
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21. Phenotypic Effect of α-Globin Gene Numbers on Indian Sickle β-Thalassemia Patients
    Sanjay Pandey, Sweta Pandey, Ravi Ranjan, Vineet Shah, Rahasya Mani Mishra, Monica Sharma, Renu Saxena · 2014 · Journal of Clinical Laboratory Analysis
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    Jian‐Pei Fang, Luming Chen, Ruiping Zeng, Qiu‐Hong Tian, Weiying Jiang, Hongyi Li, Zheng Chen, Chuanshu Du, Su-Qin Chen · 2013 · Hemoglobin
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    Jöerg Baten, Richard H. Steckel, Clark Spencer Larsen, Charlotte Ann Roberts · 2018 · Cambridge University Press eBooks
24. Copy number variations of six and seven α-globin genes in a family with intermedia and major thalassemia phenotypes
    Samaneh Farashi, Shadi Vakili, Negin Faramarzi Garous, Mehri Ashki, Hashem Imanian, Azita Azarkeivan, Hossein Najmabadi · 2015 · Expert Review of Hematology
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    Michael Lee · 2006 · Wiley eBooks
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    Morgan Pines, Sujit Sheth · 2023 · Hematology/Oncology Clinics of North America
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    Alessia Finotti, Roberto Gambari · 2023 · Frontiers in Genome Editing
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    Yong-Han Hank Cheng, Stephanie C. Bohaczuk, Andrew B. Stergachis · 2024 · Human Genetics
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    Abdulrahman S. Alsultan, Ahmed M. AlSuliman, Aamer Aleem, Farjah H AlGahtani, Majid Alfadhel · 2018 · Genetic Testing and Molecular Biomarkers
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    Zsolt Bereczki, Maria Teschler‐Nicola, Antónia Marcsik, Nicholas J. Meinzer, Jöerg Baten · 2018 · Cambridge University Press eBooks
31. Characterization of iron metabolism and erythropoiesis in erythrocyte membrane defects and thalassemia traits
    Lucie Sulovská, Dušan Holub, Zuzana Zidova, Martina Divoká, Marián Hajdúch, Vladimír Mihál, Jana Vrbková, Monika Horváthová, Dagmar Pospı́šilová · 2015 · Biomedical Papers
32. Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder*
    Vip Viprakasit, Prin Vathesathokit, Worrawut Chinchang, Kalaya Tachavanich, Parichat Pung‐Amritt, Victoria L. C. Wimhurst, Pa‐thai Yenchitsomanus, Alison T. Merryweather‐Clarke, Voravarn S. Tanphaichitr · 2004 · European Journal Of Haematology
33. Towards the genetic treatment of -thalassemia: new disease models, new vectors, new cells
    Paolo Moi, Michel Sadelain · 2008 · Haematologica
34. Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka
    Shiromi Perera, Angela Allen, Ishari Silva, Menaka D. Hapugoda, Merita Nirmali Wickramaratne, Indira Wijesiriwardena, Stephen John Allen, David C. Rees, Dimitar G. Efremov, Christopher A. Fisher et al. · 2019 · Scientific Reports
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    Magdalena Mroczek, Maria Gabriela Sanchez · 2020 · Journal of Applied Genetics
36. β‐thalassemia intermedia due to compound heterozygosity for two β‐globin gene promoter mutations, including a novel TATA box deletion
    Raveen K. Basran, Ulrike M. Reiss, Hongyuan Luo, Russell E. Ware, David H.K. Chui · 2006 · Pediatric Blood & Cancer
37. ThalInd , a β‐thalassemia and hemoglobinopathies database for India: defining a model country‐specific and disease‐centric bioinformatics resource
    Sujata Sinha, Michael L. Black, Sarita Agarwal, Reena Das, Alan Holland Bittles, M. Bellgard · 2011 · Human Mutation
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    Julianne D. Halley, David Alan Winkler, Frank R. Burden · 2008 · Stem Cell Research
39. Application of Multiplex Ligation-Dependent Probe Amplification to Screen for β-Globin Cluster Deletions: Detection of Two Novel Deletions in a Multi Ethnic Population
    Jialing Cui, Mahin Azimi, Christoph Baysdorfer, Elliott P. Vichinsky, Carolyn C. Hoppe · 2013 · Hemoglobin
40. Loss of α-hemoglobin–stabilizing protein impairs erythropoiesis and exacerbates β-thalassemia
    Yi Kong, Suiping Zhou, Anthony J. Kihm, Anne M. Katein, Xiang Yu, David A. Gell, Joel P. Mackay, Kazuhiko Adachi, Linda Foster-Brown, Calvert S. Louden et al. · 2004 · Journal of Clinical Investigation
41. Pluripotent Stem Cells in Research and Treatment of Hemoglobinopathies
    N. Arora, G Q Daley · 2012 · Cold Spring Harbor Perspectives in Medicine
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    Xing Zhang, Fangfang Xia, Xiaotian Zhang, Robert Blumenthal, Xiaodong Cheng · 2023 · Journal of Molecular Biology
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    Paula Fernandez Guerra, Rune Isak Dupont Birkler, Begoña Merinero, Magdalena Ugarte, Niels Gregersen, Pilar Rodríguez‐Pombo, Peter Bross, Johan Palmfeldt · 2014 · Molecular Genetics & Genomic Medicine
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    Małgorzata Kardyńska, Daria Kogut, Marcin Pacholczyk, Jarosław Śmieja · 2023 · Computational and Structural Biotechnology Journal
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    Asif Alam, Agron Mataj, Yuanzhong Yang, Reinhard I. Boysen, Donald K. Bowden, Milton T. W. Hearn · 2010 · Analytical Chemistry
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    EE Ito, AO Egwunyenga, JEG Ake · 2014 · International Journal of Medicine and Biomedical Research
49. Beta Globin Gene and Related Diseases: A Review
    Swapan K. Das, Geeta Talukder · 2002 · International Journal of Human Genetics
50. Impact of molecular medicine on pathophysiology, medical practice, and medical education.
    Stjepan Gamulin · 2003 · PubMed
51. The Long Scientific Journey of Sirolimus (Rapamycin): From the Soil of Easter Island (Rapa Nui) to Applied Research and Clinical Trials on β-Thalassemia and Other Hemoglobinopathies
    Roberto Gambari, Cristina Zuccato, Lucia Carmela Cosenza, Matteo Zurlo, Jessica Gasparello, Alessia Finotti, Maria Rita Gamberini, Marco Prosdocimi · 2023 · Biology
52. Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region
    Jianlong Zhuang, Junyu Wang, Nan Huang, Yu Zheng, Liangpu Xu · 2024 · BMC Medical Genomics
53. History of Anemia and Related Nutritional Deficiencies
    Anastasia Papathanasiou, Nicholas J. Meinzer, Kimberly D. Williams, Clark Spencer Larsen · 2018 · Cambridge University Press eBooks
54. Relationship between AHSP gene expression, β/α globin mRNA ratio, and clinical severity of the β-thalassemia patients.
    Reza Ranjbaran, Mohammad Ali Okhovat, Arash Mobarhanfard, Farzaneh Aboualizadeh, Mozhdeh Abbasi, Leili Moezzi, Habibollah Golafshan, Abbas Behzad‐Behbahani, Mandana Bagheri, Sedigheh Sharifzadeh · 2014 · PubMed
55. High prevalence of anaemia among A frican migrants in G ermany persists after exclusion of iron deficiency and erythrocyte polymorphisms
    Sophie Alice Müller, Stephen Amoah, Stefanie Meese, Joachim Spranger, Frank P. Mockenhaupt · 2015 · Tropical Medicine & International Health
56. Review: Beta-thalassemia and molecular chaperones
    Afshan Sumera, Ammu Kutty Radhakrishnan, Abdul Aziz Baba, Elizabeth George · 2015 · Blood Cells Molecules and Diseases
57. A Case Series of α-Thalassemia Intermedia Due to Compound Heterozygosity for Hb Adana [HBA2: c179G>A (orHBA1); p.Gly60Asp] With Other α-Thalassemias in Malay Families
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58. Three New β-Thalassemia Mutations with Varying Degrees of Severity
    Hannes Frischknecht, Fabrizio Dutly, Lynda Walker, Lisa M. Nakamura-Garrett, Barry Eng, John S. Waye · 2009 · Hemoglobin
59. Proliferative Periosteal Reactions
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60. Physiological and Aberrant γ-Globin Transcription During Development
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61. A historical perspective of the glycosphingolipids and sphingolipidoses
    Richard W.E. Watts · 2003 · Philosophical Transactions of the Royal Society B Biological Sciences
62. An in vivo model for analysis of developmental erythropoiesis and globin gene regulation
    Bradley McColl, Betty Kao, Preeyachan Lourthai, Kasey Chan, Hady Wardan, Mark Roosjen, Orane Delagneau, Linden J. Gearing, Marnie E. Blewitt, Saovaros Svasti et al. · 2014 · The FASEB Journal
63. Sustained and full fetal hemoglobin production after failure of bone marrow transplant in a patient homozygous for beta 0‐thalassemia: A clinical remission despite genetic disease and transplant rejection
    Katia Paciaroni, Cristiano Gallucci, Gioia De Angelis, Cecilia Alfieri, Andrea Roveda, Guido Lucarelli · 2009 · American Journal of Hematology
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    G.C.S. Carrocini, Luciana de Souza Ondei, Paula J. A. Zamaro, Cláudia R. Bonini-Domingos · 2011 · Genetics and Molecular Research
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    Mohsen Saleh Elalfy, Nayera H. K. Elsherif, Tarek M. Kamal, Nihal Hussien Aly · 2017 · Journal of Pediatric Hematology/Oncology
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    Leon Eisenberg · 2002 · Journal of Psychiatric Practice
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76. Strategy for mapping quantitative trait loci (QTL) by using human metapopulations.
    Igor Rudan, Zrinka Biloglav, Andrew D. Carothers, Alan F. Wright, Harry Campbell · 2006 · PubMed Central
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79. Hemolysis area: A new parameter of erythrocyte osmotic fragility for screening of thalassemia trait
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    Gehan Lotfy Abdel Hakeem, Hoda Abdel kereem Abdel Samei, Ashraf Mohamed El Shereif, Ahlam Mohamed Ismail · 2015 · Mediterranean Journal of Hematology and Infectious Diseases
92. Growth disruption in children : linear enamel hypoplasias
    Jörg Baten · 2019
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    Nigel E. J. Appleford, Kim Wilson, Fiona E. Houston, Lesley J. Bruce, Alex Morrison, Matthew Bishop, Kevin J. Chalmers, Gino Miele, Edwin Massey, Chris V. Prowse et al. · 2008 · Transfusion
94. Thalassaemias
    David John Weatherall · 2010 · Encyclopedia of Life Sciences
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    Yan Yuan, Xia Zhou, Jing Deng, Qun Zhu, Zanping Peng, Liya Chen, Ya Zou, Aiping Mao, Wanli Meng, Minhui Ma et al. · 2023 · Frontiers in Genetics
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97. Are Mitochondria a Potential Target for Treating β-Thalassemia?
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98. Co-Treatment of Erythroid Cells from β-Thalassemia Patients with CRISPR-Cas9-Based β039-Globin Gene Editing and Induction of Fetal Hemoglobin
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99. Gene Therapy for Homozygous β -thalassemia. Is it a Reality?
    Farid Boulad, Isabelle Rivière, Michel Sadelain · 2009 · Hemoglobin
100. Decreasing cardiac iron overload with Amlodipine and Spirulina in children with β-thalassemia
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