Results 1 to 10 of about 112,630 (116)

Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inversion
Ye Cao, Ye Cao, Ye Cao, Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Zirui Dong, Zirui Dong, Kwong Wai Choy, Kwong Wai Choy, Ivan Fai Man Lo   +18 more
doaj   +1 more source

Human immune interferon gene is located on chromosome 12

Journal of Experimental Medicine, 1983
A cDNA clone for human immune interferon (IFN-gamma) gene sequences, plasmid p69, was used to chromosomally map the IFN-gamma gene by detecting human IFN-gamma gene sequences in DNA isolated from human- rodent somatic cell hybrids.
S. Naylor, A. Sakaguchi, T. Shows, M. Law, D. Goeddel, P. Gray   +5 more
semanticscholar   +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  

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

European Journal of Human Genetics, 2012
Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations.
Christina Halgren, I. Bache, M. Bak, Mikkel Wanting Myatt, C. M. Anderson, K. Brøndum‐Nielsen, N. Tommerup   +6 more
semanticscholar   +1 more source

Comparative Phylogenetic Studies of Rhesus Monkey (Macaca mulatta) and Human (Homo sapiens) using G-Banding Pattern

, 2006
Comparative phylogenetic studies of rhesus monkey (Macaca mulatta) and human (Homo sapiens) using G-banding patterns were investigated. Blood samples of rhesus monkeys were examined using lymphocyte culture technique. The results indicate that the number
A. Tanomtong, S. Khunsook, Aunrat Chaveerach, W. Kaensa, Ruangvit Banjongrat   +4 more
semanticscholar   +1 more source

Cytogenetic analysis on Pterophyllum scalare (Perciformes, Cichlidae) from Jari River, Pará state

, 2006
Cytogenetic studies were carried out on eighteen wild specimens of Pterophyllum scalare from Jari River, in Pará state, and the results were compared to literature.
A. Nascimento, Augusto César P. Souza, E. Feldberg, J. Carvalho, R. Barros, J. Pieczarka, C. Nagamachi   +6 more
semanticscholar   +1 more source

Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes.

Proceedings of the National Academy of Sciences of the United States of America, 1982
D. Page, B. de Martinville, D. Barker, A. Wyman, R. White, U. Francke, D. Botstein   +6 more
semanticscholar   +1 more source

Characterization of restriction enzyme banding polymorphisms in human chromosomes.

Hereditas, 2004
L. Yohai, N. Bianchi
semanticscholar   +1 more source

A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium.

Human Molecular Genetics, 1998
A. Bailey, A. Hervás, Nicola Matthews, S. Palferman, S. Wallace, Anne Aubin, J. Michelotti, Catherine Wainhouse, K. Papanikolaou, M. Rutter, E. Maestrini, A. Marlow, D. Weeks, J. Lamb, C. Francks, G. Kearsley, Pat Scudder, A. Monaco, G. Baird, A. Cox, H. Cockerill, Fleming Nuffield, A. Couteur, T. Berney, H. John Cooper, T. Kelly, Jonathan Green, J. Whittaker, A. Gilchrist, P. Bolton, Anne Schönewald, M. Daker, C. Ogilvie, Z. Docherty, Z. Deans, Bryan D. Bolton, R. Packer, F. Poustka, D. Rühl, Gabriele Schmötzer, S. Bölte, S. Klauck, Anja Spieler, A. Poustka, H. Engeland, C. Kemner, M. Jonge, I. D. Hartog, C. Lord, E. Cook, B. Leventhal, F. Volkmar, D. Pauls, A. Klin, S. Smalley, E. Fombonne, B. Rogé, M. Tauber, E. Arti-Vartayan, Jeanne Fremolle-Kruck, L. Pederson, D. Haracopos, K. Brøndum‐Nielsen, R. Cotterill   +63 more
semanticscholar   +1 more source

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Human Molecular Genetics, 2011
W. Kloosterman, V. Guryev, Markus J. van Roosmalen, K. Duran, Ewart de Bruijn, S. Bakker, T. Letteboer, B. V. van Nesselrooij, R. Hochstenbach, M. Poot, E. Cuppen   +10 more
semanticscholar   +1 more source