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Items: 1 to 20 of 60

1.
NF-E2 and GATA binding motifs are required for the formation of DNase I hypersensitive site 4 of the human beta-globin locus control region.
J A Stamatoyannopoulos, A Goodwin, T Joyce, C H Lowrey
EMBO J. 1995 Jan 3; 14(1): 106–116. doi: 10.1002/j.1460-2075.1995.tb06980.x
PMCID:
PMC398057
SummaryPage BrowsePDF–3.0M
2.
The "beta-like-globin" gene domain in human erythroid cells.
D Tuan, W Solomon, Q Li, I M London
Proc Natl Acad Sci U S A. 1985 Oct; 82(19): 6384–6388. doi: 10.1073/pnas.82.19.6384
PMCID:
PMC390720
SummaryPage BrowsePDF–1.3M
3.
Erythroid-specific nuclease-hypersensitive sites flanking the human beta-globin domain.
V Dhar, A Nandi, C L Schildkraut, A I Skoultchi
Mol Cell Biol. 1990 Aug; 10(8): 4324–4333. doi: 10.1128/mcb.10.8.4324
PMCID:
PMC360980
SummaryPage BrowsePDF–2.3M
4.
Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids.
W C Forrester, S Takegawa, T Papayannopoulou, G Stamatoyannopoulos, M Groudine
Nucleic Acids Res. 1987 Dec 23; 15(24): 10159–10177. doi: 10.1093/nar/15.24.10159
PMCID:
PMC339937
SummaryPage BrowsePDF–2.7M
5.
HS5 of the human β-globin locus control region: a developmental stage-specific border in erythroid cells
Albert W.K. Wai, Nynke Gillemans, Selina Raguz-Bolognesi, Sara Pruzina, Gaetano Zafarana, Dies Meijer, Sjaak Philipsen, Frank Grosveld
EMBO J. 2003 Sep 1; 22(17): 4489–4500. doi: 10.1093/emboj/cdg437
PMCID:
PMC202379
ArticlePDF–479K
6.
Mechanism of DNase I hypersensitive site formation within the human globin locus control region.
C H Lowrey, D M Bodine, A W Nienhuis
Proc Natl Acad Sci U S A. 1992 Feb 1; 89(3): 1143–1147. doi: 10.1073/pnas.89.3.1143
PMCID:
PMC48402
SummaryPage BrowsePDF–1.5M
7.
Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China
Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu, Can Liao
BMC Med Genet. 2020; 21: 43. Published online 2020 Feb 28. doi: 10.1186/s12881-020-0981-x
PMCID:
PMC7049201
ArticlePDF–2.7M
8.
Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies
Coralea Stephanou, Stella Tamana, Anna Minaidou, Panayiota Papasavva, Marina Kleanthous, Petros Kountouris
J Clin Med. 2019 Nov; 8(11): 1927. Published online 2019 Nov 9. doi: 10.3390/jcm8111927
PMCID:
PMC6912721
ArticlePDF–4.2M
9.
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China
Jie Zhang, Yang Yang, Peng Li, Yuanlong Yan, Tao Lv, Tingting Zhao, Xiaohong Zeng, Dongmei Li, Xiaoyan Zhou, Hong Chen, Jie Su, Tonghua Yang, Jing He, Baosheng Zhu
Mol Genet Genomic Med. 2019 Jun; 7(6): e706. Published online 2019 May 1. doi: 10.1002/mgg3.706
PMCID:
PMC6565566
ArticlePDF–489K
10.
Clinical impact of the two ART resistance markers, K13 gene mutations and DPC3 in Vietnam
Maria Carmina Pau, Antonella Pantaleo, Ioannis Tsamesidis, Ha Hoang, Anh Tuan Tran, Thi Lien Hanh Nguyen, Thi Hang Giang Phan, Phuong Anh Ton Nu, Thi Minh Chau Ngo, Giuseppe Marchetti, Evelin Schwarzer, Pier Luigi Fiori, Philip S. Low, Chien Dinh Huynh, Francesco Michelangelo Turrini
PLoS One. 2019; 14(4): e0214667. Published online 2019 Apr 2. doi: 10.1371/journal.pone.0214667
PMCID:
PMC6445423
ArticlePDF–850K
11.
Haplotype Analysis of β-Thalassaemia Major and Carriers with Filipino β°-Deletion in Sabah, Malaysia
Lai Kuan Teh, George Elizabeth, Mei I Lai, Lily Wong, Patimah Ismail
Malays J Med Sci. 2018 Jul; 25(4): 63–71. Published online 2018 Aug 30. doi: 10.21315/mjms2018.25.4.6
PMCID:
PMC6422544
ArticlePDF–295K
12.
Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements
Annalisa Lattanzi, Vasco Meneghini, Giulia Pavani, Fatima Amor, Sophie Ramadier, Tristan Felix, Chiara Antoniani, Cecile Masson, Olivier Alibeu, Ciaran Lee, Matthew H. Porteus, Gang Bao, Mario Amendola, Fulvio Mavilio, Annarita Miccio
Mol Ther. 2019 Jan 2; 27(1): 137–150. Published online 2018 Oct 17. doi: 10.1016/j.ymthe.2018.10.008
PMCID:
PMC6318785
ArticlePDF–2.0M
13.
Time estimations by network of beta globin gene cluster haplotypes linked with Hb D‐Los Angeles [β121 (GH4) Glu → Gln GAA → CAA] mutation in the world populations
Onur Ozturk, Sanem Arikan, Ayfer Atalay, Erol O. Atalay
Mol Genet Genomic Med. 2018 Nov; 6(6): 1181–1187. Published online 2018 Nov 11. doi: 10.1002/mgg3.499
PMCID:
PMC6305635
ArticlePDF–455K
14.
First Observation of Hb Lepore Hollandia in the Baiga Tribal Family
Harsha Lad, Manju Yadav, Pallavi Mehta, Purushottam Patel, Pratibha Sawant, Roshan B. Colah, Malay B. Mukherjee, Rajasubramaniam Shanmugam
Indian J Hematol Blood Transfus. 2018 Jul; 34(3): 581–584. Published online 2018 Feb 27. doi: 10.1007/s12288-018-0931-3
PMCID:
PMC6081309
ArticlePDF–640K
15.
Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia
Stefania Byrou, G. Mike Makrigiorgos, Agathoklis Christofides, Ioannis Kallikas, Thessalia Papasavva, Marina Kleanthous
PLoS One. 2018; 13(7): e0200348. Published online 2018 Jul 25. doi: 10.1371/journal.pone.0200348
PMCID:
PMC6059429
ArticlePDF–3.6M
16.
A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia
Mousa A. Alaithan, Sayed AbdulAzeez, J. Francis Borgio
Saudi Med J. 2018 Apr; 39(4): 329–335. doi: 10.15537/smj.2018.4.21360
PMCID:
PMC5938644
ArticlePDF–690K
17.
KLF1 gene and borderline hemoglobin A2 in Saudi population
J. Francis Borgio, Sayed AbdulAzeez, Ahmed M. Al-Muslami, Zaki A. Naserullah, Sana Al-Jarrash, Ahmed M. Al-Suliman, Mohammed S. Al-Madan, Amein K. Al-Ali
Arch Med Sci. 2018 Jan; 14(1): 230–236. Published online 2017 Dec 19. doi: 10.5114/aoms.2018.72245
PMCID:
PMC5778434
ArticlePDF–287K
18.
HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell
Grace Onimoe, Genine Smarzo
Case Rep Hematol. 2017; 2017: 9265396. Published online 2017 Sep 17. doi: 10.1155/2017/9265396
PMCID:
PMC5623780
ArticlePDF–592K
19.
Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child
Monica Pirastru, Laura Manca, Sandro Trova, Paolo Mereu
Biomed Res Int. 2017; 2017: 1261972. Published online 2017 May 3. doi: 10.1155/2017/1261972
PMCID:
PMC5434260
ArticlePDF–1.0M
20.
Discrimination of Aspergillosis, Mucormycosis, Fusariosis, and Scedosporiosis in Formalin-Fixed Paraffin-Embedded Tissue Specimens by Use of Multiple Real-Time Quantitative PCR Assays
Elham Salehi, Mohammad T. Hedayati, Jan Zoll, Haleh Rafati, Maryam Ghasemi, Atosa Doroudinia, Mahdi Abastabar, Ali Tolooe, Eveline Snelders, Henrich A. van der Lee, Antonius J. M. M. Rijs, Paul E. Verweij, Seyedmojtaba Seyedmousavi, Willem J. G. Melchers
J Clin Microbiol. 2016 Nov; 54(11): 2798–2803. Prepublished online 2016 Sep 7. Published online 2016 Oct 24. doi: 10.1128/JCM.01185-16
PMCID:
PMC5078559
ArticlePDF–230K

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