Results 11 to 20 of about 236,633 (310)
X chromosome inactivation, X-linked disorders, and cancer [PDF]
Frontiers in GeneticsX chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating ...
Consuelo Salas-Labadía +6 more
doaj +2 more sources
Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders
Molecular Therapy: Methods & Clinical Development, 2020 Many human genetic diseases are associated with gross mutations such as aneuploidies, deletions, duplications, or inversions. For these “structural” disorders, conventional gene therapy, based on viral vectors and/or on programmable nuclease-mediated ...
Marianna Paulis +12 more
doaj +3 more sources
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Neurobiology of Disease, 2010 A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders
Amber Hogart +3 more
doaj +3 more sources
Performance Evaluation of Noninvasive Prenatal Testing in Screening Chromosome Disorders: A Single-Center Observational Study of 15,304 Consecutive Cases in China [PDF]
International Journal of Women's HealthQiang Ye,1 Guoping Huang,1 Qin Hu,1 Qin Man,2 Xiaoying Hao,3 Liangyan Liu,4 Qiang Zhong,1 Zhao Jin2 1Department of Clinical Laboratory, West China Second University Hospital, Southern Sichuan Women’s and Children’s Hospital, Zigong, Sichuan, 643000 ...
Ye Q +7 more
doaj +2 more sources
Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report [PDF]
Iranian Journal of Medical Sciences, 2022 Deletion 9p syndrome is a rare chromosomal abnormality with a wide spectrum of manifestations such as craniofacial dysmorphism, congenital anomalies, and psychomotor delay.
Mozhgan Saberi, Frouzandeh Mahjoubi
doaj +1 more source
Life, 2021 Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we developed and validated rapid CNV-sequencing (rCNV-seq) for clinical application in prenatal diagnosis.
Xiya Zhou +8 more
doaj +1 more source
Fluorescence in situ hybridization in hematology [PDF]
Vojnosanitetski Pregled, 2012 nema
Milošević Ivana +2 more
doaj +1 more source
Clinical and Experimental Obstetrics & Gynecology, 2022 Background: The abnormal course of the umbilical vein and the absence or displacement of the portal vein or ductus venosus may suggest the presence of other shunts.
Jinha Chung +3 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To report one case of autosomal recessive juvenile⁃onset Parkinson's diseased (AR⁃JP), and summarize its clinical manifestations, imaging and genetic testing results, treatment and outcome.
ZHANG Yue +4 more
doaj +1 more source
Chromosomal instability in patients with Fanconi anemia from Serbia [PDF]
Vojnosanitetski Pregled, 2014 Background/Aim. Fanconi anemia (FA) is a rare hereditary disease in a heterogeneous group of syndromes, so-called chromosome breakage disorders. Specific hypersensitivity of its cells to chemical agents, such as diepoxybutane (DEB), was used as ...
Ćirković Sanja +4 more
doaj +1 more source