Results 11 to 20 of about 77,988 (331)

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023
Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin   +47 more
wiley   +1 more source

Evolution of Karyotypes in Chameleons [PDF]

open access: yesGenes, 2017
The reconstruction of the evolutionary dynamics of karyotypes and sex determining systems in squamate reptiles is precluded by the lack of data in many groups including most chameleons (Squamata: Acrodonta: Chamaeleonidae). We performed cytogenetic analysis in 16 species of chameleons from 8 genera covering the phylogenetic diversity of the family and ...
Martina Johnson Pokorná   +6 more
openaire   +2 more sources

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

open access: yes, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A.   +73 more
core   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker   +9 more
wiley   +1 more source

Helix straminea Briganti, 1825 in Italy (Gastropoda: Pulmonata): taxonomic history, morphology, biology, distribution and phylogeny

open access: yesThe European Zoological Journal, 2021
The land snail taxon Helix straminea Briganti, 1825 has been reintroduced as a valid species in 2014. We provide here a comprehensive account of its taxonomy, distribution, anatomy, phylogeny and karyology in Italy. An overview of the historical views on
A. Petraccioli   +10 more
doaj   +1 more source

Karyotyping human chromosomes by optical and X-ray ptychography methods [PDF]

open access: yes, 2014
Sorting and identifying chromosomes, a process known as karyotyping, is widely used to detect changes in chromosome shapes and gene positions. In a karyotype the chromosomes are identified by their size and therefore this process can be performed by ...
Estandarte, Ana K.   +9 more
core   +2 more sources

The karyotype of the pig

open access: yesHereditas, 2009
The karyotype of the pig (Sus scrofa domestica) is studied and characterized after applying G-band and C-band staining procedures. The material examined originates from 5 boars and 5 gilts and consists of cells from fibroblast and lymphoblast cultures. The identity of the X-chromosome is discussed.
Yngve Melander, Eva Hansen-Melander
openaire   +3 more sources

Granular B lymphoblastic leukemia

open access: yes, 2023
American Journal of Hematology, Volume 98, Issue 1, Page 210-211, January 2023.
Biswadip Hazarika, Barbara J. Bain
wiley   +1 more source

Long-term cultivation of two diploid epithelial cell lines derived from normal rat liver cells [PDF]

open access: yes, 1974
To obtain a useful rat liver cell line for in vitro carcinogenesis, two rat diploid epithelial cell lines were established from a 7-day-old male rat by the repeated colonial clone method.
Masuji, Hiroshi   +2 more
core   +1 more source

Karyomorphometry on three polyploid species of Arum L. (Araceae, Aroideae)

open access: yesComparative Cytogenetics, 2014
In this study three polyploid Arum Linnaeus, 1753 species from Southern Italy were chromosomally investigated. Arum italicum Miller, 1768 was found to have 2n = 84 chromosomes and a karyotype composed of numerous asymmetric chromosomes.
Alessio Turco   +3 more
doaj   +1 more source

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