Results 81 to 90 of about 148,643 (304)

Karyotype and male pre-reductional meiosis of the sharpshooter Tapajosa rubromarginata (Hemiptera: Cicadellidae)

open access: yesRevista de Biología Tropical, 2011
Cicadellidae in one of the best represented families in the Neotropical Region, and the tribe Proconiini comprises most of the xylem-feeding insects, including the majority of the known vectors of xylem-born phytopathogenic organisms. The cytogenetics of
Graciela R de Bigliardo   +3 more
doaj  

Clonal karyotype evolution involving ring chromosome 1 with myelodysplastic syndrome subtype RAEB-t progressing into acute leukemia [PDF]

open access: yes, 2006
s Karyotypic evolution is a well-known phenomenon in patients with malignant hernatological disorders during disease progression. We describe a 50-year-old male patient who had originally presented with pancytopenia in October 1992.
Bennett JM   +46 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +1 more source

A A new diploid cytotype of Agrimonia pilosa (Rosaceae)

open access: yesCaryologia, 2020
A new diploid cytotype of Agrimonia pilosa Ledebour (Rosaceae) collected in China has been revealed. Karyotype formula is 2n = 2x = 16 = 14m + 2sm. Previously, chromosome numbers in A.
Elizaveta Mitrenina   +5 more
doaj   +1 more source

Effect of antibiotics against Mycoplasma sp. on human embryonic stem cells undifferentiated status, pluripotency, cell viability and growth [PDF]

open access: yes, 2013
Human embryonic stem cells (hESCs) are self-renewing pluripotent cells that can differentiate into specialized cells and hold great promise as models for human development and disease studies, cell-replacement therapies, drug discovery and in vitro ...
Bluguermann, Carolina   +6 more
core   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

A rare presentation of the Klinefelter's syndrome [PDF]

open access: yes, 2003
A 16 years old boy with Chronic Renal Failure (CRF) was not suspected of having Klinefelter's syndrome until he complained of painful gynecomastia. He was under haemodialysis for 2 years. At first, he was in an approximately full pubertal development (P5,
A. Frank   +23 more
core   +2 more sources

Karyotypes of three species of marine catfishes from Brazil

open access: yesBrazilian Journal of Oceanography, 1994
The chromosomes of three species of fishes belonging to the family Ariidae -Netuma barba, Genidens genidens and Amis parkeri - were studied after conventional Giemsa staining. All three species have a diploid chromosome number of 2n = 56.
Vicente Gomes   +2 more
doaj   +1 more source

C-banding, fluorescent staining and NOR location in holokinetic chromosomes of bugs of the Neotropical genus Antiteuchus (Heteroptera: Pentatomidae: Discocephalinae) [PDF]

open access: yes, 2006
Different cytogenetic techniques including C-banding, base-specific fluorochromes and silver nitrate staining were used to compare the karyotypes of three species of bugs, representatives of the Neotropical genus Antiteuchus, namely A.
de Souza, Maria José, Lanzone, Cecilia
core   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

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