Results 81 to 90 of about 1,853,756 (208)

X chromosome inactivation, X-linked disorders, and cancer

Frontiers in Genetics
X chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating ...
Consuelo Salas-Labadía, Patricia Pérez-Vera, Fernando Gómez-Chávez, Ximena Pérez Baena, Daniel Martínez Anaya, Jorge Colín Rubio, María del Pilar Navarrete-Meneses   +6 more
doaj   +1 more source

Unique Characteristics of the X Chromosome and Related Disorders

, 2017
X-linked disorders include chromosomal aberrations as well as deleterious variants in the specific genes encoded on the X chromosome. In comparison to autosomal chromosomes, the X chromosome has unique features that impact disease expression. The primary
Alison DeRemigis, Kshama Shah, Sudhir Sriram, Joseph R. Hageman, Darrel Waggoner   +4 more
core   +1 more source

Identification of candidate genes for dyslexia susceptibility on chromosome 18 [PDF]

, 2010
Background: Six independent studies have identified linkage to chromosome 18 for developmental dyslexia or general reading ability. Until now, no candidate genes have been identified to explain this linkage.
Pennington Bruce F., Anthony P. Monaco, Alex J. Richardson, Richard K. Olson, Alex J Richardson, Joel Talcott, Bruce F Pennington, Morris Andrew, Olson Richard K., Silvia Paracchini, Anthony P Monaco, Thomas S Scerri, Smith, Shelley D., Richardson, Alex J., I Laurence MacPhie, Stein, John, Shelley D. Smith, Pennington, Bruce F., Monaco, Anthony P., Paracchini, Silvia, John Stein, Stein, John F., Scerri Thomas S., MacPhie I. Laurence, Talcott, Joel B., I. Laurence MacPhie, Andrew Morris, John C. DeFries, Talcott Joel, Morris, Andrew, Smith Shelley D., Talcott, Joel, Bruce F. Pennington, Monaco Anthony P., Olson, Richard K., MacPhie, I. Laurence, DeFries, John C., DeFries John C., Shelley D Smith, Stein John, John C DeFries, Richard K Olson, Paracchini Silvia, Thomas S. Scerri, Scerri, Thomas S., Paracchini, Silvia; id_orcid   +45 more
core   +1 more source

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Molecular Cytogenetics, 2009
Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15.
Liu Dahai, Dorrani Naghmeh, Driscoll Jennette, Wang Nicholas J, Wu David J, Sigman Marian, Schanen N Carolyn   +6 more
doaj   +1 more source

Acquired abnormalities of chromosome 21 in acute lymphoblastic leukaemia

, 2008
The intrachromosomal amplification of chromosome 21 (iAMP21) was identifiedas a novel and prognositically important acquired chromosomal abnormality inchildhood acute lymphoblastic leukaemia (ALL).
Robinson, Hazel M., Robinson, Hazel M
core   +1 more source

Mouse models of aneuploidy to understand chromosome disorders. [PDF]

Mamm Genome, 2022
Tosh J, Tybulewicz V, Fisher EMC.
europepmc   +1 more source

Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction [PDF]

, 1992
Non-isotopic in situ hybridization of chromosome-specific alphoid DNA probes has become a potent tool in the study of numerical aberrations of specific human chromosomes at all stages of the cell cycle. In this paper, we describe approaches for the rapid
Dunham, Ian, Cremer, Thomas, Terry Featherstone, Christoph Lengauer, Featherstone, Terry, Lan Dunham, Lengauer, Christoph, Thomas Cremer   +7 more
core   +1 more source

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

Frontiers in Genetics, 2019
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear.
Yixi Sun, Yixi Sun, Yixi Sun, Yuqin Luo, Yuqin Luo, Yuqin Luo, Yeqing Qian, Yeqing Qian, Yeqing Qian, Min Chen, Min Chen, Min Chen, Liya Wang, Liya Wang, Liya Wang, Hongge Li, Hongge Li, Hongge Li, Yu Zou, Minyue Dong, Minyue Dong, Minyue Dong   +21 more
doaj   +1 more source

The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes. [PDF]

J Assist Reprod Genet, 2022
Martel RA, Blakemore JK, Fino ME.
europepmc   +1 more source

Metaphase and Interphase Cytogenetics with Alu-PCR-amplified Yeast Artificial Chromosome Clones Containing the BCR Gene and the Protooncogenes c-raf-1, c-fms, and c-erbB-21 [PDF]

, 1992
A human yeast artificial chromosome (YAC) library was screened by polymerase chain reaction with oligonucleotide primers defined for DNA sequences of the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erB-2.
Olson, Maynard V., Riethman, Harold C., Speicher, Michael R., Cremer, Thomas, Green, Eric D., Becher, Reinhard, Konecki, David, Taniwaki, Masafumi, Lengauer, Christoph   +8 more
core   +1 more source