Results 21 to 30 of about 769,627 (258)

Chromosomal Heterogeneity of the G-401 Rhabdoid Tumor Cell Line: Unusual Partial 7p Trisomy

open access: yesFrontiers in Medicine, 2019
Rhabdoid tumor is a very aggressive and hardly curable pediatric malignancy. It commonly starts in the kidneys but also can occur in the brain, liver, and other organs. The treatment of this tumor usually involves a combination of surgery, radiation, and
Elizaveta Fasler-Kan   +16 more
doaj   +1 more source

Genetic analysis and clinical significance of a rare t(1;12)(q21;p13) in a patient with high‐risk myelodysplastic syndrome

open access: yesMolecular Genetics & Genomic Medicine, 2022
To explore the genetic and clinical features of a rare t(1;12)(q21;p13) in a patient with myelodysplastic syndrome (MDS). A 53‐year‐old male was diagnosed as high‐risk MDS, and died in a short period.
Fang Fang   +4 more
doaj   +1 more source

The genome sequence of a stonefly, Nemurella pictetii Klapalek, 1900 [version 2; peer review: 2 approved, 1 approved with reservations]

open access: yesWellcome Open Research, 2022
We present a genome assembly from an individual male Nemurella pictetii (Arthropoda; Insecta; Plecoptera; Nemouridae). The genome sequence is 257 megabases in span.
Craig Macadam   +2 more
doaj   +1 more source

Chromosome painting reveals asynaptic full alignment of homologs and HIM-8-dependent remodeling of X chromosome territories during Caenorhabditis elegans meiosis. [PDF]

open access: yesPLoS Genetics, 2011
During early meiotic prophase, a nucleus-wide reorganization leads to sorting of chromosomes into homologous pairs and to establishing associations between homologous chromosomes along their entire lengths.
Kentaro Nabeshima   +2 more
doaj   +1 more source

An unusual chromosomal segregation in a family with a translocation between chromosomes 3 and 12 [PDF]

open access: yesJournal of Medical Genetics, 1974
A family is reported in which two infants were born with different types of congenital abnormalities. Chromosome studies on one of the infants showed a partial trisomy of the short arms of a No. 3 chromosome. A family study showed many balanced translocation carriers who had extra chromosomal material on the long arms of a No. 12 chromosome.
S, Sachdeva, G F, Smith, P, Justice
openaire   +2 more sources

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

open access: yesMolecular Cytogenetics, 2022
Background Unbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable phenotype depending on the tissue
Xiaolin Hu   +7 more
doaj   +1 more source

Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat

open access: yesDisease Models & Mechanisms, 2017
We previously mapped hypertension-related insulin resistance quantitative trait loci (QTLs) to rat chromosomes 4, 12 and 16 using adipocytes from F2 crosses between spontaneously hypertensive (SHR) and Wistar Kyoto (WKY) rats, and subsequently identified
Philip M. Coan   +9 more
doaj   +1 more source

Preferences of Pediatric Patients and Their Caregivers for Chemotherapy‐Induced Nausea and Vomiting Control Endpoints: A Mixed Methods Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Although not always achieved, complete chemotherapy‐induced nausea and vomiting (CINV) control is the conventional goal of CINV prophylaxis. In this two‐center, mixed‐methods study, we sought to understand the preferences of adolescent patients and family caregivers for CINV control endpoints.
Haley Newman   +8 more
wiley   +1 more source

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan   +6 more
wiley   +1 more source

Karyotypic Study of Male Predaceous Spear-headed Katydid (Palaeoagraeciabrunnea) and Male Bluish-green Rice Grasshopper (Hieroglyphus banian) in Northern Thailand [PDF]

open access: yesWarasan Witthayasat Lae Theknoloyi Mahawitthayalai Mahasarakham, 2020
Karyotypic and idiogram studies were preformed using male predaceous spear-headed katydid, Palaeoagraecia brunnea (Ingrisch, 1998), and male bluish-green rice grasshopper, Hieroglyphus banian (Fabricius, 1798), collected from Lamphun and Chiang Mai ...
Isara Patawang
doaj  

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