Results 1 to 10 of about 79,294 (58)

Cohen syndrome diagnosed using microarray comparative genomic hibridization

Iatreia, 2017
Cohen syndrome (CS) is an uncommon autosomal recessive genetic disorder attributed to damage on VPS13B gene, locus 8q22-q23. Characteristic phenotype consists of intellectual disability, microcephaly, facial dysmorphism, ophthalmic abnormalities, truncal
Saldarriaga-Gil, Wilmar , Collazos-Saa, Laura, Ramírez-Cheyne, Julián   +2 more
doaj   +1 more source

Karyotypic features including organizations of the 5S, 45S rDNA loci and telomeres of Scadoxus multiflorus (Amaryllidaceae)

Comparative Cytogenetics, 2016
Scadoxus multiflorus Martyn, 1795 is an ornamental plant with brilliantly colored flowers. Even though its chromosomes are rather large, there is no karyotype description reported so far.
Pansa Monkheang, Arunrat Chaveerach, Runglawan Sudmoon, Tawatchai Tanee   +3 more
doaj   +3 more sources

Deep ancestry of mammalian X chromosome revealed by comparison with the basal tetrapod Xenopus tropicalis

BMC Genomics, 2012
Background The X and Y sex chromosomes are conspicuous features of placental mammal genomes. Mammalian sex chromosomes arose from an ordinary pair of autosomes after the proto-Y acquired a male-determining gene and degenerated due to suppression of X-Y ...
Mácha Jaroslav, Teichmanová Radka, Sater Amy K, Wells Dan E, Tlapáková Tereza, Zimmerman Lyle B, Krylov Vladimír   +6 more
doaj   +1 more source

Genomic instability in human actinic keratosis and squamous cell carcinoma

Clinics, 2011
OBJECTIVE: To compare the repetitive DNA patterns of human actinic keratoses and squamous cell carcinomas to determine the genetic alterations that are associated with malignant transformation. INTRODUCTION: Cancer cells are prone to genomic instability,
Luciana Sanches Cabral, Cyro Festa Neto, José A. Sanches Jr, Itamar R. G. Ruiz   +3 more
doaj   +1 more source

A comparative of G-banded chromosome of Assam Macaque (Macaca assamensis) and relationship to human (Homo sapiens) [PDF]

Songklanakarin Journal of Science and Technology (SJST), 2006
This research was the first to report a comparative analysis of G-banded chromosome of Assam macaque, Macaca assamensis (Primate, Cercopithecidae) and relationship to human, Homo sapiens (Primate, Hominidae).
Bunjongrat, R., Khunsook, S., Kaensa, W., Tanomtong, A.   +3 more
doaj  

Trajectory of human migration: insights from autosomal and non-autosomal variant clustering patterns

Journal of Advanced Biotechnology and Experimental Therapeutics
Genetic variations present in the Y chromosomal and mitochondrial DNA provide the mole-cular basis to support the archeological and anthropological evidence that formulates the theories for describing the trajectory of human migration, which started ...
Samayeta Sarkar Tuli, Joyatry Sarker, Mrinmoy Saha Roddur, Anik Biswas, Reefa Nawar, Tahmina Akter, Md. Wahid Murad, Abu Ashfaqur Sajib   +7 more
doaj   +1 more source

MGA: a tool for haplotype-mixed assembly of long and accurate reads. [PDF]

Genome Biol
Zhang Z, Fedarko MW, Bankevich A, Pevzner PA.   +3 more
europepmc   +1 more source

Prediction and functional interpretation of inter-chromosomal genome architecture from DNA sequence with TwinC. [PDF]

Nat Commun
Jha A, Hristov B, Wang X, Wang S, Greenleaf WJ, Kundaje A, Aiden EL, Bertero A, Noble WS.   +8 more
europepmc   +1 more source

SuperSelective PCR primers for determining cis/trans configurations of mutations within the same gene. [PDF]

PLoS One
Vargas DY, Kramer FR.
europepmc   +1 more source

Sex chromosome identification and genome curation from a single individual with SCINKD. [PDF]

Mol Biol Evol
Pinto BJ, Gable SM, Keating SE, Smith CH, Gamble T, Nielsen SV, Wilson MA.   +6 more
europepmc   +1 more source