Results 51 to 60 of about 483,817 (151)

Gene duplication and fragmentation in the zebra finch major histocompatibility complex [PDF]

, 2010
BACKGROUND: Due to its high polymorphism and importance for disease resistance, the major histocompatibility complex (MHC) has been an important focus of many vertebrate genome projects.
Tina Graves, Griffin, D.K., Wesley C Warren, Edwards, Scott, Völker, Martin, Völker Martin, Westerdahl Helena, Burt, D.W., Graves, Tina, Griffin Darren K, Martin Völker, Burt, David W, Darren K Griffin, Helena Westerdahl, Godinez Ricardo, Edwards, S.V., Edwards, Scott V, Kotkiewicz, H., Ekblom, Robert,, Ekblom Robert, Warren, Wesley C, Warren, W.C., Ekblom, Robert, Robert Ekblom, David W Burt, Ricardo Godinez, Warren, Wesley C., Scott V Edwards, Lund University., Griffin, Darren K., Godinez, Ricardo, Westerdahl, Helena, Ekblom, R., Westerdahl, Helena,, Edwards, Scott V., Kotkiewicz, Holly, Voelker, Martin, Graves Tina, Christopher N Balakrishnan, Balakrishnan, Christopher N, Godinez, R., Warren Wesley C, Burt David W, Balakrishnan, Christopher N., Kotkiewicz Holly, Griffin, Darren K, Westerdahl, H., Balakrishnan Christopher N, Balakrishnan, C.N., Graves, T., Graves, Tina A., Burt, David W., Holly Kotkiewicz, Volker, M., Edwards Scott V   +54 more
core   +1 more source

A rare inherited 15q11.2-q13.1 interstitial duplication with maternal somatic mosaicism, renal carcinoma and autism

Frontiers in Genetics, 2016
Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here we describe a unique family with an interstitial 15q11.2-q13.1
Nora Urraca, Nora Urraca, Brian Potter, Brian Potter, Rachel Hundley, Eniko Pivnick, Eniko Pivnick, Kathryn McVicar, Ronald Thibert, Chistopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L. Sirois, Stormy J. Chamberlain, Lawrence T. Reiter, Lawrence T. Reiter   +15 more
doaj   +1 more source

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

Genetics and Molecular Biology, 2007
Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS) and Wolf-Hirschhorn syndrome (WHS), the former ...
Juliana F. Mazzeu, Ana Cristina Krepischi-Santos, Carla Rosenberg, Charles M. Lourenço, Karina Lezirovitz, Karoly Szuhai, Lúcia R. Martelli, Angela M. Vianna-Morgante   +7 more
doaj   +1 more source

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

, 2010
De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region.
F Mahjoubi, G Babamohammadi, F Nasiri
core   +1 more source

Glomerulopathy in patients with distal duplication of chromosome 6p [PDF]

, 2016
Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a ...
Koczkowska, Magdalena,, Jankauskienė, Augustina, Jankauskienė, Augustina,, Schaefer, Franz, Augustina Jankauskienė, Magdalena Koczkowska, Anna Bjerre, Bernaciak, Joanna, Bernaciak, Joanna,, Lipska-Ziętkiewicz, Beata S., Beata S. Lipska-Ziętkiewicz, Lipska-Ziętkiewicz, Beata S.,, Bjerre, Anna, Schaefer, Franz,, Bjerre, Anna,, Koczkowska, Magdalena, Joanna Bernaciak, Franz Schaefer   +17 more
core   +3 more sources

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Molecular Cytogenetics, 2009
Background Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotypic features.
Thieme Heike, von Eggeling Ferdinand, Mrasek Kristin, Alehan Dursun, Utine Eda, Weise Anja, Aktas Dilek, Tuncbilek Ergul, Liehr Thomas   +8 more
doaj   +1 more source

Evolution of the DAZ gene and the AZFc region on primate Y chromosomes

BMC Evolutionary Biology, 2008
Background The Azoospermia Factor c (AZFc) region of the human Y chromosome is a unique product of segmental duplication. It consists almost entirely of very long amplicons, represented by different colors, and is frequently deleted in subfertile men ...
Yu Jane-Fang, Lin Yi-Wen, Yu Yueh-Hsiang, Schempp Werner, Yen Pauline H   +4 more
doaj   +1 more source

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies

Molecular Cytogenetics, 2012
Partial duplication and partial deletion of the short arm of chromosome 9 have each been reported in the literature as clinically recognizable syndromes.
Di Bartolo Daniel L, El Naggar Mohamed, Owen Renius, Sahoo Trilochan, Gilbert Fred, Pulijaal Venkat R, Mathew Susan   +6 more
doaj   +1 more source

Partial duplication of chromosome 8p: Report of 5 patients and review of literature [PDF]

, 2009
The partial chromosome 8p duplication is a rare syndrome and is associated with a characteristic phenotype, including multiple congenital anomalies and mental retardation of various degrees.
Abulhasan, SJ, Marafie, MJ, Al-Wadaani, A, Abu-Henedi, MM   +3 more
core  

Chromosome duplication in Lolium multiflorum Lam. [PDF]

Crop Breeding and Applied Biotechnology, 2014
Artificial chromosome duplication of diploid genotypes of Lolium multiflorum (2n=2x=14) is worthy to breeding, and aims to increase the expression of traits with agronomic interest.
Roselaine Cristina Pereira, Marco Túlio Mendes Ferreira, Lisete Chamma Davide, Moacir Pasqual, Andréa Mittelmann, Vânia Helena Techio   +5 more
doaj