Results 11 to 20 of about 3,861,183 (367)
The Chromosome Disorders. An Introduction for Clinicians [PDF]
Journal of Medical Genetics, 1967 P. E. Polani
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Fluorescence in situ hybridization in hematology [PDF]
Vojnosanitetski Pregled, 2012 nema
Milošević Ivana +2 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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Prenatal detection of chromosome disorders [PDF]
The Lancet, 2001 Kathy Mann, Caroline Mackie Ogilvie
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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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Complete trisomy 14 mosaicism: first live-born case in Korea [PDF]
Korean Journal of Pediatrics, 2012 Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated ...
Yun Jung Hur, Taegyu Hwang
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Cytogenetic Analysis for Suspected Chromosomal Anomalies- A Retrospective Study [PDF]
Journal of Clinical and Diagnostic Research, 2020 Introduction: The chromosomal anomalies are the most significant cause of human genetic disorders. Various types of structural and numerical chromosome aberrations have been identified in clinically suspect of genetic disorders.
Asoke K Pal +5 more
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The Chromosome Disorders. An Introduction for Clinicians
Archives of Pediatrics & Adolescent Medicine, 1970 This is the second edition in five years of a brief introductory text in human cytogenetics. The book is explicitly written for clinicians without background in cytology. Accordingly, the first 44 of the 163 pages are devoted to basic cytogenetics (part 1), entitled "the grammar of cytogenetics." This part provides the background necessary for an ...
J. L. Hamerton
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Genetics in Medicine Open, 2023 Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders.
Ruth Y. Eberhardt +4 more
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The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization [PDF]
, 2017 The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 and encodes the CFDP1 protein, which belongs to the evolutionarily conserved Bucentaur (BCNT) family.
Atterrato, Maria Teresa +5 more
core +3 more sources