Suchergebnisse - "Lederer CW"

The German sickle cell disease registry reveals a surprising risk of acute splenic sequestration and an increased transfusion requirement in patients with compound heterozygous sickle cell disease HbS/β‐thalassaemia and no or low HbA expression

Autoren: Allard, Pierre Tagliaferri, Laura Weru, Vivienn et al.

Quelle: European Journal of Haematology; Oct2024, Vol. 113 Issue 4, p501-509, 9p

Schlagwörter: RED blood cell transfusion, SICKLE cell anemia, GENE expression, BLOOD transfusion, MEDICAL registries

Molecular identification and phenotypic study of a novel HBB : c.-23A>G mutation in the 5' untranslated region.

Autoren: Shen, Shichun Huang, Jungao Qi, Haimei et al.

Quelle: Frontiers in Medicine; 2025, p1-10, 10p

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy.

Autoren: Bai, Jinli Li, Ping Jiao, Hui et al.

Quelle: Italian Journal of Pediatrics; 7/8/2025, Vol. 51 Issue 1, p1-10, 10p

Schlagwörter: DIAGNOSIS of epilepsy, GENETICS of epilepsy, GENOME-wide association studies, RESEARCH funding, DNA, IN vivo studies, BIOINFORMATICS, MESSENGER RNA, EPILEPSY, ACID ceramidase, GENETIC mutation, CASE studies, SPINAL muscular atrophy, SEQUENCE analysis, CHILDREN

Geografische Kategorien: CHINA

Accurate diagnosis of hemoglobinopathies with machine learning based on high‐throughput proteomics.

Autoren: Wei, Shaodong Nielsen, Annelaura Bach Helby, Jens et al.

Quelle: HemaSphere; Nov2025, Vol. 9 Issue 11, p1-11, 11p

Hb A2-Pontedera [δ93(F9) Cys > Trp; HBD: C.282T > G]: A New δ-Globin Chain Variant Detected by Screening Tests for Hemoglobinopathies.

Autoren: Maffei, Massimo Mogni, Massimo Manzini, Serena et al.

Quelle: Hemoglobin; Sep2024, Vol. 48 Issue 5, p360-363, 4p

Schlagwörter: AMINO acid residues, ERYTHROCYTES, GENETIC variation, SARS-CoV-2 Delta variant, ELECTRIC charge

A widely prevalent hemoglobin beta mutation among beta-thalassemia patients in Assiut University Hospitals.

Autoren: Kassem, Alaa M. Saber, Amira Afifi, Ola A. et al.

Quelle: Egyptian Journal of Haematology; Jul-Sep2025, Vol. 50 Issue 3, p572-579, 8p

Schlagwörter: BETA-Thalassemia, GENE flow, GENETIC testing, PUBLIC health, NUCLEIC acid amplification techniques, UNIVERSITY hospitals

Geografische Kategorien: EGYPT

Submitting Novel Globin Gene Variants to Hemoglobin.

Autoren: Harteveld, Cornelis L. Patrinos, George P. Traeger-Synodinos, Joanne et al.

Quelle: Hemoglobin; 2023, Vol. 47 Issue 4, p135-136, 2p

Schlagwörter: HEMOGLOBIN polymorphisms, GLOBIN genes, GENETIC variation, HUMAN genetic variation

Acid ceramidase-1 (ASAH1/aCDase) an important for anticancer drug discovery: a review.

Autoren: Pawar, Seemarani M. Chitre, Trupti Dandawate, Prasad

Quelle: Future Journal of Pharmaceutical Sciences; 5/26/2025, Vol. 11 Issue 1, p1-13, 13p

Schlagwörter: SPHINGOLIPIDS, DRUG discovery, MOLECULAR models, TUMORS, SPHINGOSINE-1-phosphate, CERAMIDES

Alpha+ Thalassemia in Northwestern Tanzania: Molecular and Hematological Insights From Newborn Screening.

Autoren: Ambrose, Emmanuela E Kidenya, Benson R Smart, Luke R et al.

Quelle: Journal of Blood Medicine; May2025, Vol. 16, p241-250, 10p

Schlagwörter: STATISTICAL significance, DEMOGRAPHIC characteristics, FISHER exact test, ERYTHROCYTES, HEREDITY

Geografische Kategorien: TANZANIA

Beta-Thalassemia Haplotypes in Southwest of Iran.

Autoren: Dehdezi, Bijan Keikhaei Mafakher, Ladan Kia, Arta Farhadi et al.

Quelle: Iranian Journal of Pediatric Hematology & Oncology; 2024, Vol. 14 Issue 4, p266-275, 10p

Schlagwörter: GENE flow, BETA-Thalassemia, ETHNIC groups, GENETIC mutation, THALASSEMIA

Geografische Kategorien: IRAN

Author index.

Quelle: FEBS Journal; Jul2007 Supplement 1, Vol. 274, p307-317, 11p

Schlagwörter: INDEXES, AUTHORS

Identification of a novel and rare α⁰‐thalassemia 27.0 kb deletion with 9 bp insertion (Lamphun deletion; ‐‐^LAMPHUN) in a Thai family.

Autoren: Khamphikham, Pinyaphat Tepakhan, Wanicha Tongjai, Siripong et al.

Quelle: International Journal of Laboratory Hematology; Feb2024, Vol. 46 Issue 1, p176-179, 4p

Schlagwörter: DNA analysis, PHYSICAL diagnosis, GENETIC mutation, ALPHA-Thalassemia, THAI people, HYPOCHROMIC anemia, GENETIC testing, ALLELES, GENETIC counseling, FERTILIZATION in vitro, BLOOD testing, GENETIC techniques, SYMPTOMS, CHILDREN

Gene-edited hematopoietic stem cells for leukemia and lymphoma treatment: a systematic review of preclinical and translational evidence.

Autoren: Nourmohammadi, Hassan Babashahi, Mashallah Panji, Mohammad et al.

Quelle: Discover Oncology; 10/2/2025, Vol. 16 Issue 1, p1-16, 16p

Schlagwörter: HEMATOPOIETIC stem cells, LEUKEMIA, CANCER treatment, GENOME editing, CRISPRS, GENETIC vectors, TRANSLATIONAL research, LYMPHOMAS

Hb A2-Guangxi [δ79 (EF3) Asp→Asn, HBD: C.238G > A] and polyA + 70 (HBD: C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family.

Autoren: Long, Xi-Gui He, Xi Zheng, Li-Hong et al.

Quelle: Hemoglobin; Jul2024, Vol. 48 Issue 4, p265-269, 5p

Schlagwörter: HIGH performance liquid chromatography, GENETIC testing, CAPILLARY electrophoresis, GENETIC mutation, GENES, GAIN-of-function mutations

Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics.

Autoren: Cacoub, Emmanuelle Lefebvre, Nathalie Barreto Milunov, Dimitrije et al.

Quelle: Frontiers in Public Health; 2025, p1-15, 15p

Genome engineering with Cas9 and AAV repair templates generates frequent concatemeric insertions of viral vectors.

Autoren: Suchy, Fabian P. Karigane, Daiki Nakauchi, Yusuke et al.

Quelle: Nature Biotechnology; Feb2025, Vol. 43 Issue 2, p204-213, 10p

First clinical and pedigree study of rare HBB: c.316–90 A > G variant in β-globin gene in Chinese population using third-generation sequencing.

Autoren: Zhuang, Jianlong Huang, Nan Zheng, Yu et al.

Quelle: Annals of Hematology; Jan2025, Vol. 104 Issue 1, p75-80, 6p

Schlagwörter: BETA-Thalassemia, CHINESE people, NUCLEOTIDE sequencing, MEDICAL research, GENETIC counseling, FAMILY history (Genealogy), GENETIC variation

Geografische Kategorien: CHINA

The epidemiology of undiagnosed illnesses a call to action in Saudi Arabia.

Autoren: Hussein, Mohammed Salah Alqaed, Hamad Saleh H. Mansur, Alhejeili Alboraa et al.

Quelle: International Journal of Medicine in Developing Countries; 2025, Vol. 9 Issue 1, p195-204, 10p

Schlagwörter: HYPERTENSION epidemiology, CELIAC disease diagnosis, PSYCHIATRIC epidemiology, HYPOTHYROIDISM diagnosis, OBESITY risk factors, PREVENTION of chronic diseases, LYME disease diagnosis, HEALTH literacy, BEHAVIOR modification, INTERPROFESSIONAL relations, SEDENTARY lifestyles, FATIGUE (Physiology), FIBROMYALGIA, ADRENAL insufficiency, POLYCYSTIC ovary syndrome, POPULATION geography, HEALTH behavior, MEDICAL appointments, MEDICAL screening, PUBLIC health, HEALTH promotion, EARLY diagnosis, SOCIODEMOGRAPHIC factors, DIABETES

Geografische Kategorien: SAUDI Arabia

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β⁰-Thalassemia.

Autoren: Waye, John S. Hanna, Meredith Nakamura, Lisa et al.

Quelle: Hemoglobin; Mar2024, Vol. 48 Issue 2, p116-117, 2p

Schlagwörter: GENETIC mutation

β⁰-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].

Autoren: Waye, John S. Hanna, Meredith Hohenadel, Betty-Ann et al.

Quelle: Hemoglobin; Jan2024, Vol. 48 Issue 1, p69-70, 2p

Schlagwörter: NONSENSE mutation, AMINO acids, HEMOGLOBINOPATHY

Geografische Kategorien: PUNJAB