Results 11 to 20 of about 462,672 (344)
Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing. [PDF]
, 2020 Recent efforts to comprehensively characterize great ape genetic diversity using short-read sequencing and single-nucleotide variants have led to important discoveries related to selection within species, demographic history, and lineage-specific traits.
Andrés, Aida M +7 more
core +3 more sources
Cervical Spine Malformations Associated With a 5q34-5q35.2 Micro-interstitial Deletion: A Case Report [PDF]
Annals of Rehabilitation Medicine, 2018 We report a female proband carrying a de novo 5q34-q35.2 deletion breakpoint, and review the unique skeletal phenotype and possible genotype related to this mutation. The patient presented with a persistent head tilt and limited head rotation.
Heewon Lee +4 more
doaj +1 more source
Birth seasonality studies in a large Prader-Willi syndrome cohort. [PDF]
, 2019 Prader-Willi syndrome (PWS) is generally due to sporadic paternal deletions of the chromosome 15q11-q13 region followed by maternal disomy 15. Advanced maternal age is more commonly seen in those with maternal disomy 15. Environmental factors (e.g., drug
Butler, Merlin G +6 more
core +1 more source
Epilepsy and deletions at chromosome 2q24 [PDF]
American Journal of Medical Genetics Part A, 2006 Chromosomal abnormalities are an important cause of epilepsy [Singh et al., 2002], which might be the presenting symptom in the context of a specific syndrome. A recent article by Langer et al. [2006] reports on a translocation t(2;15) with deletion at 2q24-q31 in a girl with epilepsy, dysmorphic features, and severe developmental delay.
Pereira, S +4 more
openaire +2 more sources
Chromosomal Deletions in Myelodysplasia
Leukemia & Lymphoma, 1995 There are two major classes of genes implicated in human tumorigenesis, the oncogenes and the tumour suppressor genes. In haematological malignancies most emphasis has been placed upon the recurring translocations in which the juxtaposition of two gene sequences has resulted in the activation of an oncogene.
Boultwood, J, Fidler, C
openaire +3 more sources
Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
BMC Medical Genomics, 2022 Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
Jincheng Dai +4 more
doaj +1 more source
SMC is recruited to oriC by ParB and promotes chromosome segregation in Streptococcus pneumoniae [PDF]
, 2011 Segregation of replicated chromosomes is an essential process in all organisms. How bacteria, such as the oval-shaped human pathogen Streptococcus pneumoniae, efficiently segregate their chromosomes is poorly understood.
Avery +61 more
core +5 more sources
Radiation-induced myeloid leukemia in murine models. [PDF]
, 2014 The use of radiation therapy is a cornerstone of modern cancer treatment. The number of patients that undergo radiation as a part of their therapy regimen is only increasing every year, but this does not come without cost.
Davoren, Michael +2 more
core +2 more sources
Frontiers in Genetics, 2019 Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun +21 more
doaj +1 more source
A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture. [PDF]
, 2004 Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common ...
Freimer, Nelson B +2 more
core +2 more sources