Results 1 to 10 of about 1,861 (113)
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
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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
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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
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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
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Fluorescence in situ hybridization in hematology [PDF]
Vojnosanitetski Pregled, 2012 nema
Milošević Ivana +2 more
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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
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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
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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
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Multi‐tissue cytogenetic analysis for the diagnosis of mosaic Down syndrome: A case report
Clinical Case Reports, 2022 Less than one percent of individuals with Down syndrome exhibit mosaicism, a biological phenomenon that describes an individual who has two or more genetically distinct cell lines.
Wilberg A. Moncada Arita +6 more
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Logopedia Silesiana, 2021 Chromosome 13q deletion syndrome is a kind of chromosome aberration which belongs to rarely occurring genetic abnormalities. Chromosome 13q deletion results in phenotypic disorders such as malfunctions in the central nervous system, anatomical changes of
Ewa Binkuńska
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