Results 141 to 150 of about 181,456 (327)

Direct PCR-Based VNTR Analysis of TPO Intron 10 for Rapid Detection of Maternal Cell Contamination in Prenatal Diagnosis. [PDF]

Clin Transl Sci
ABSTRACT Maternal cell contamination (MCC) in fetal specimens poses a major risk for misdiagnosis in prenatal genetic testing. Standard variable number tandem repeat (VNTR) analysis of the thyroid peroxidase (TPO) gene intron 10 is informative for MCC detection but traditionally requires DNA extraction, limiting its use in resource‐limited laboratories.
Wichian P, Pattrakorn A, Fucharoen S, Srivorakun H, Prommetta S, Yamsri S.   +5 more
europepmc   +2 more sources

Health Care Challenges of Hereditary Common Hematological Disorders in Odisha, India [PDF]

, 2012
Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences.
Balgir, RS
core   +1 more source

Is there a difference in phenotype between males and females with non-transfusion-dependent thalassemia? A cross-sectional evaluation [PDF]

, 2018
Maria Marsella, Massimiliano Ammirabile, Tiziana Di Matola, Alessia Pepe, Silvia Costantini, Aldo Filosa, Paolo Ricchi   +6 more
openalex   +1 more source

THE CLINICAL SIGNIFICANCE OF THE SPECTRUM OF INTERACTIONS OF THE RARE IVS-II-5 G>C (HBB: C.315+5 G>C) VARIATION WITH OTHER Β-THALASSEMIA MUTATIONS IN SOUTHERN CHINA

, 2022
Yali Zhou, Guiping Liao, Xiaolin Yin, Sheng He, Yi Wu, Jian Xiao, Zhili Geng, Qiuying Huang, Ganghui Luo, Kun Yang   +9 more
openalex   +2 more sources

The role of opportunistic quantitative computed tomography in the evaluation of bone disease and risk of fracture in thalassemia major [PDF]

, 2022
Aldo Carnevale, Fabio Pellegrino, Beatrice Bravi, Maria Rita Gamberini, Irene Gagliardi, Roberto Reverberi, Maria Chiara Zatelli, Melchiore Giganti, Maria Rosaria Ambrosio   +8 more
openalex   +1 more source

ACMG/AMP‐Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non‐Deletional Hb H Disease

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, Nor Nazuha Mohamad, Chin Ming Lee, Mohd Nazif Darawi, Thessalia Papasavva, Coralea Stephanou, Petros Kountouris, Sandra J. G. Arkesteijn, Tamara Koopman, Cornelis L. Harteveld   +14 more
wiley   +1 more source

Position statement from the British Society of Blood and Marrow Transplantation and Cellular Therapy on insertional oncogenesis in gene‐engineered advanced cell therapy products for treatment of haematological disorders

British Journal of Haematology, EarlyView.
S. Ghorashian, R. Sanderson, J. Lee, A. Black, M. A. O'Reilly, D. I. Marks, J. Snowden, D. Richardson, E. Olavarria   +8 more
wiley   +1 more source

Intervention and Prevention of Hereditary Hemolytic Disorders in Two Ethnic Communities of Sundargarh District of Orissa, India: An Experience from KAP Studies [PDF]

, 2010
Hereditary hemolytic disorders are important public health challenges in India. They cause a high degree of morbidity, mortality and fetal wastage in vulnerable communities.
Balgir, RS
core   +1 more source

Growth Pattern Among Yemeni Children Suffering from Β Thalassemia Major in Relation to Serum Ferritin the Yemeni Society for Thalassemia and Genetic Blood Disorder - Sana'a Yemen [PDF]

, 2019
Ali Ahmed Al-Zaazaai, Abdullah A. K. Al-Tayar   +1 more
openalex   +1 more source

Fetal Pyruvate Kinase Deficiency Identified Incidentally in a Chinese Family at Risk for α-Thalassemia

, 2021
Jin Han, Li J, Dong‐Zhi Li
openalex   +2 more sources