Results 11 to 20 of about 100,877 (263)

Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p

open access: yesStem Cell Research, 2021
Cases in which the duplication of chromosome 8p (dup 8p) is observed are characterized by facial dysmorphism, agenesis/hypoplasia of the corpus callosum, heart defects and severe mental retardation.
Cheng Yi   +8 more
doaj   +1 more source

Prenatal Diagnosis of 17p13.1p13.3 Duplication

open access: yesCase Reports in Medicine, 2012
We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients.
Kirsi Kiiski   +4 more
doaj   +1 more source

A possible duplication in theX chromosome of man [PDF]

open access: yesExperientia, 1969
La morphologie du chromosomeX humain pendant la prophase I — comparable a celle qui a ete decrite pour 8 especes de primates — suggere l'existence d'un «crossing over» dans le chromosomeX de l'homme, du a un dedoublement possible de ce chromosome, resultant du transfer d'un autosome sur son homologue.
J, Egozcue, D G, Noverges
openaire   +2 more sources

In vivo HAPLOID INDUCTION AND EFFICIENCY OF TWO CHROMOSOME DUPLICATION PROTOCOLS IN TROPICAL MAIZE

open access: yesCiência e Agrotecnologia, 2015
Artificial chromosome duplication is one of the most important process in the attainment of doubled haploids in maize. This study aimed to evaluate the induction ability of the inducer line KEMS in a tropical climate and test the efficiency of the R1 ...
Evellyn Giselly de Oliveira Couto   +5 more
doaj   +1 more source

Chromosome 15 structural abnormalities: effect on IGF1R gene expression and function

open access: yesEndocrine Connections, 2017
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with ...
Rossella Cannarella   +6 more
doaj   +1 more source

The sister bonding of duplicated chromosomes [PDF]

open access: yesSeminars in Cell & Developmental Biology, 2011
Sister chromatid cohesion and separation are two fundamental chromosome dynamics that are essential to equal chromosome segregation during cell proliferation. In this review, I will discuss the major steps that regulate these dynamics during mitosis, with an emphasis on vertebrate cells. The implications of these machineries outside of sister chromatid
openaire   +2 more sources

A spontaneous tandem duplication in aDrosophila chromosome

open access: yesExperientia, 1981
Uploaded by Plazi for TaxoDros. We do not have abstracts.
V, Baimai, S, Kitthawee
openaire   +3 more sources

Neuro-Behavioral Phenotype in 16p11.2 Duplication: A Case Series

open access: yesChildren, 2020
Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most frequent known genetic causes of autism spectrum disorder and of other neurodevelopmental disorders. However, data about the neuro-behavioral phenotype of
Annio Posar, Paola Visconti
doaj   +1 more source

Large inverted duplications in the human genome form via a fold-back mechanism. [PDF]

open access: yesPLoS Genetics, 2014
Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large duplications that include many genes can lead to both neurodevelopmental phenotypes in children and gene amplifications in tumors.
Karen E Hermetz   +7 more
doaj   +1 more source

Chromosome duplication causing gene‐dosage‐based effects on the gene expression level in Gossypium hirsutum‐Gossypium australe addition lines

open access: yesPlant Direct, 2020
Polyploidization, or whole‐genome duplication, leads to gene expression changes that drive the evolution of many plants and some animals. However, the role of the dosage effect on gene expression changes following genome duplication remains unclear. Here,
Shouli Feng   +6 more
doaj   +1 more source

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