Results 11 to 20 of about 2,689 (218)

Hemophagocytic Lymphohystiocytosis in a Patient With Suspected Acute Myeloid Leukemia and Recent Viral Illness Compatible With Dengue: A Case Report and Literature Review. [PDF]

Cancer Rep (Hoboken)
ABSTRACT Background Hemophagocytic lymphohistiocytosis, or HLH, is a very rare and aggressive disorder of the immune system, for which the trigger may be an infection, malignancy, or autoimmune disease. It has predominantly been described as triggered by T/NK lymphomas, but acute myeloid leukemia‐induced HLH is a very rare occurrence.
Saleh H, Khan S, Albraim H, Albraim S, Rafey A, Pereira M, Mohammed T.   +6 more
europepmc   +2 more sources

Hypogonadotropic Hypogonadism in a Central Obesity Patient with 46, XY, t(1; 10)(q42; q24). [PDF]

JBRA Assist Reprod
Hypogonadotropic hypogonadism (HH) is characterized by absent or insufficient secretion of GnRH and/or pituitary gonadotropins, which consequently leads to testicular dysfunction. HH is commonly associated with obesity, particularly in specific genetic syndromes, and its etiology appears heterogeneous and remains far from fully understood.
Luo H, Cao H, Zhang J, Zhang Q, Li H, Chen L, Zeng T, Hu X.   +7 more
europepmc   +4 more sources

Regional assignment of the structural gene for human acid β-glucosidase to q42→qter on chromosome 1 [PDF]

Cytogenetics and Cell Genetics, 2008
The structural gene for human acid β-glucosidase (GBA) has been regionally assigned to a narrow region on chromosome 1 using somatic cell hybridization, specific immunoprecipitation, and assay with the natural substrate. A human fibroblast line, 46, XX, del(1)(pter→q42:), was fused with mouse RAG fibroblasts and the heterokaryons were subcloned.
Devine, EA, Smith, M, Arredondo-Vega, FX, Shafit-Zagardo, B, Desnick, RJ   +4 more
openaire   +5 more sources

Genetic mapping and haplotype analysis identify novel candidate genes for high night temperature tolerance in winter wheat. [PDF]

Plant Genome
Abstract A diverse panel of 320 winter wheat (Triticum aestivum L.) genotypes was evaluated for yield‐related parameters under control and high night‐time temperature (HNT) stress using custom‐designed, movable field‐based heat tents over 2 years. Genome‐wide association mapping identified several significant single nucleotide polymorphisms (SNPs ...
Kumar Saini D, Hein NT, Somayanda I, Bheemanahalli R, Ostmeyer T, Jagadish SVK.   +5 more
europepmc   +2 more sources

The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour [PDF]

Oncogene, 2003
Wilms' tumour (WT) has a diverse and complex molecular aetiology, with several different loci identified by cytogenetic and molecular analyses. One such locus is on chromosome 7p, where cytogenetic abnormalities and loss of heterozygosity (LOH) indicate the presence of a Wilms' tumour suppressor gene. In order to isolate a candidate gene for this locus,
Vernon, EG, Malik, KTA, Reynolds, PA, Powlesland, RM, Dallosso, AR, Jackson, S, Henthorn, K, Green, ED, Brown, KW   +8 more
openaire   +4 more sources

Partial trisomy 1(q42-->qter): a new case with a mild phenotype. [PDF]

Journal of Medical Genetics, 1998
We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be confined to the distal chromosomal segment.
Daniela Concolino, P Strisciuglio
exaly   +4 more sources

Progression significance for low-level aberrant B-lymphoblasts in chronic myeloid leukaemia patients. [PDF]

Clin Transl Med
Clinical and Translational Medicine, Volume 15, Issue 11, November 2025.
Wang H, Wang H, Li Y, Zheng B, Fang Q, Li Y, Liu Y, Gu R, Wang Y, Mi Y, Liu B, Wei H, Wang J.   +12 more
europepmc   +2 more sources

Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects

Taiwanese Journal of Obstetrics and Gynecology, 2021
Objective: We present molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a mentally retarded child of a family requesting for genetic counseling of the future pregnancy.
Chih-Ping Chen, Peih-Shan Wu, Shin-Wen Chen   +2 more
exaly   +3 more sources

Should the Workload of Combining Clinical Practice With Data Collection be Considered: A Survey of Physicians With Data Collection Experience. [PDF]

J Evid Based Med
ABSTRACT Aim To survey the physician's attention to the workload of combining clinical practice with Traditional Chinese Medicine (TCM) data collection. Background With the development of artificial intelligence technology in the medical field, the task of collecting diverse clinical data in TCM has increased.
Zhang X, Jiang Y, Guan Z, Zhao M, Hu M, Xu Q, Wang W, Gao W, Qiu R, Li M, Yang B, Zhou L, Liu Z, Li Z, Xiang Y, Zhao J, Wang Z, Lou X, Guo S, Dai G, Bian Z, Wang H, Zhao C, Shang H.   +23 more
europepmc   +2 more sources

Analysis of aortic blood-flow from ECG-free realtime PC MRI [PDF]

, 2022
Art. Q42, 2 S.17Supplement
Joseph, A., Huellebrand, M., Frahm, J., Hennemuth, A., Tautz, L.   +4 more
core   +3 more sources