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Items: 1 to 20 of 81

1.
Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco
Sara El Janahi, Mounir Filali, Zakia Boudar, Amina Akhattab, Rachid El Jaoudi, Najib Al Idrissi, Nouzha Dini, Chakib Nejjari, Raquel Yahyaoui, Michele A. Lloyd-Puryear, Hassan Ghazal
Int J Neonatal Screen. 2024 Dec; 10(4): 80. Published online 2024 Dec 4. doi: 10.3390/ijns10040080
PMCID:
PMC11677151
ArticlePDF–412K
2.
Application of third-generation sequencing technology in the genetic testing of thalassemia
Weihao Li, Yanchou Ye
Mol Cytogenet. 2024; 17: 32. Published online 2024 Dec 18. doi: 10.1186/s13039-024-00701-4
PMCID:
PMC11657128
ArticlePDF–1.1M
3.
Evaluation of cardiac findings using speckle‐tracking echocardiography in fetuses with hemoglobin Bart's disease
S. Anuwutnavin, K. Russameecharoen, P. Ruangvutilert, S. Viboonchard, C. Yaiyiam, M. Sklansky, G. R. DeVore
Ultrasound Obstet Gynecol. 2024 Dec; 64(6): 755–767. Published online 2024 Dec 2. doi: 10.1002/uog.27676
PMCID:
PMC11609887
ArticlePDF–4.9M
4.
A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China
Zeyan Zhong, Dina Chen, Zhiyang Guan, Guoxing Zhong, Zhiyong Wu, Jianmin Chen, Jianhong Chen
Pract Lab Med. 2024 Nov; 42: e00438. Published online 2024 Oct 23. doi: 10.1016/j.plabm.2024.e00438
PMCID:
PMC11549990
ArticlePDF–2.8M
5.
Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease
Pannarai Somboonchai, Pimlak Charoenkwan, Sirivipa Piyamongkol, Worashorn Lattiwongsakorn, Tawiwan Pantasri, Wirawit Piyamongkol
BMC Genomics. 2024; 25: 668. Published online 2024 Jul 3. doi: 10.1186/s12864-024-10578-7
PMCID:
PMC11223301
ArticlePDF–1.7M
6.
Comparing three cardiothoracic ratio measurement techniques and creating multivariable scoring system to predict Bart’s hydrops fetalis at 17–22 weeks’ gestation
Sanitra Anuwutnavin, Patsawee Rangseechamrat, Nalat Sompagdee, Pornpimol Ruangvutilert, Sommai Viboonchard
Sci Rep. 2024; 14: 8894. Published online 2024 Apr 17. doi: 10.1038/s41598-024-59719-8
PMCID:
PMC11024143
ArticlePDF–1.1M
7.
Retrospective study and implementation of a low-cost LAMP-turbidimetric assay for screening α0-thalassemia (SEA deletion): preventing and controlling Hb Bart’s hydrops fetalis syndrome in Thailand
Wittaya Jomoui, Kanokkorn Saknava, Kanokpron Prechatrammaruch, Yanticha Ondee
PeerJ. 2024; 12: e17054. Published online 2024 Feb 27. doi: 10.7717/peerj.17054
PMCID:
PMC10906261
ArticlePDF–5.5M
8.
Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study: Hemoglobinopatias em recém-nascidos na região sul do Triângulo Mineiro, Brasil. Estudo transversal
Aline Menezes Carlos, Renata Andréia Volpe Souza, Bruna Maria Bereta de Souza, Gilberto de Araujo Pereira, Sebastião Tostes, Júnior, Paulo Roberto Juliano Martins, Helio Moraes-Souza
Sao Paulo Med J. 2015; 133(5): 439–444. Published online 2015 Aug 21. doi: 10.1590/1516-3180.2015.00042302
PMCID:
PMC10871810
ArticlePDF–127K
9.
Fetal hemodynamic changes and mitochondrial dysfunction in myocardium and brain tissues in response to anemia: a lesson from hemoglobin Bart’s disease
Suchaya Luewan, Nattayaporn Apaijai, Nipon Chattipakorn, Siriporn C. Chattipakorn, Theera Tongsong
BMC Pregnancy Childbirth. 2024; 24: 141. Published online 2024 Feb 16. doi: 10.1186/s12884-023-06232-x
PMCID:
PMC10870590
ArticlePDF–1.3M
10.
Genotype analysis of 55,281 cases of thalassemia in northern Guangxi
Dan Zeng, Zhizhong Chen, Yifeng Yang, Jun Li, Baodong Tian, Limin Mo
Am J Transl Res. 2024; 16(1): 51–62. Published online 2024 Jan 15. doi: 10.62347/CQDH5278
PMCID:
PMC10839378
ArticlePDF–2.8M
11.
Single-tube multiplex real-time PCR with EvaGreen and high-resolution melting analysis for diagnosis of α0-thalassemia--SEA,--THAI, and--CR type deletions
Chedtapak Ruengdit, Manoo Punyamung, Nutjeera Intasai, Sakorn Pornprasert
PLoS One. 2023; 18(11): e0293838. Published online 2023 Nov 6. doi: 10.1371/journal.pone.0293838
PMCID:
PMC10627449
ArticlePDF–738K
12.
Characterization of New Alpha Zero (α0) Thalassaemia Deletion (−−GB) among Malays in Malaysian Population
Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Syahzuwan Hassan, Yuslina Mat Yusoff, Ermi Neiza Mohd Sahid, Ezalia Esa
Diagnostics (Basel) 2023 Oct; 13(20): 3286. Published online 2023 Oct 23. doi: 10.3390/diagnostics13203286
PMCID:
PMC10606806
ArticlePDF–2.0M
13.
Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors
Zhenren Peng, Jie Wei, Biyan Chen, Xiuning Huang, Pengshu Song, Lifang Liang, Jiajia He, Baoying Feng, Ting Que, Jie Qin, Yu'an Xie, Xiaoxia Qiu, Hongwei Wei, Sheng He
Front Pediatr. 2023; 11: 1165477. Published online 2023 Jul 21. doi: 10.3389/fped.2023.1165477
PMCID:
PMC10401059
ArticlePDF–318K
14.
Cord Blood Hematological Parameters of Fetuses Detected Different Thalassemia Genotypes in the Second Trimester of Pregnancy
Ebru Dündar Yenilmez, Abdullah Tuli
Balkan Med J. 2023 Jul; 40(4): 279–286. Published online 2023 Jul 12. doi: 10.4274/balkanmedj.galenos.2023.2023-1-86
PMCID:
PMC10339851
ArticlePDF–461K
15.
Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion
Wittaya Jomoui, Sitthichai Panyasai, Pornpun Sripornsawan, Wanicha Tepakhan
Sci Rep. 2023; 13: 9850. Published online 2023 Jun 17. doi: 10.1038/s41598-023-36840-8
PMCID:
PMC10276873
ArticlePDF–1.4M
16.
Diagnosis of α-thalassaemia by colorimetric gap loop mediated isothermal amplification
Worakawee Chumworathayee, Thongperm Munkongdee, Nattrika Buasuwan, Pornthip Chaichompoo, Saovaros Svasti
Sci Rep. 2023; 13: 9612. Published online 2023 Jun 13. doi: 10.1038/s41598-023-36676-2
PMCID:
PMC10264369
ArticlePDF–1.6M
17.
Placenta-Derived Extracellular Vesicles in Pregnancy Complications and Prospects on a Liquid Biopsy for Hemoglobin Bart’s Disease
Piya Chaemsaithong, Suchaya Luewan, Mana Taweevisit, Wararat Chiangjong, Pisut Pongchaikul, Paul Scott Thorner, Theera Tongsong, Somchai Chutipongtanate
Int J Mol Sci. 2023 Mar; 24(6): 5658. Published online 2023 Mar 16. doi: 10.3390/ijms24065658
PMCID:
PMC10055877
ArticlePDF–5.1M
18.
Comparisons of serum non-transferrin-bound iron levels and fetal cardiac function between fetuses affected with hemoglobin Bart’s disease and normal fetuses
Phudit Jatavan, Rattanaporn Sekararithi, Thidarat Jaiwongkam, Sirinart Kumfu, Nipon Chattipakorn, Theera Tongsong
Front Med (Lausanne) 2022; 9: 1015306. Published online 2023 Jan 3. doi: 10.3389/fmed.2022.1015306
PMCID:
PMC9842659
ArticlePDF–2.2M
19.
Loop-mediated isothermal amplification (LAMP) colorimetric phenol red assay for rapid identification of α0-thalassemia: Application to population screening and prenatal diagnosis
Wittaya Jomoui, Hataichanok Srivorakun, Siriyakorn Chansai, Supan Fucharoen
PLoS One. 2022; 17(4): e0267832. Published online 2022 Apr 28. doi: 10.1371/journal.pone.0267832
PMCID:
PMC9049341
ArticlePDF–1.5M
20.
Diagnostic value of fetal hemoglobin Bart’s for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy
Kritsada Singha, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen
Orphanet J Rare Dis. 2022; 17: 45. Published online 2022 Feb 10. doi: 10.1186/s13023-022-02197-w
PMCID:
PMC8832766
ArticlePDF–2.0M

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