Results 1 to 10 of about 170,056 (221)

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism

Molecular Cytogenetics, 2022
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA and gene regulatory elements via deletions ...
Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin, Hakon Hakonarson   +8 more
doaj   +1 more source

Neuroligins and Neurodevelopmental Disorders: X-Linked Genetics

Frontiers in Synaptic Neuroscience, 2020
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that results in social-communication impairments, as well as restricted and repetitive behaviors. Moreover, ASD is more prevalent in males, with a male to female ratio of 4 to 1.
Thien A. Nguyen, Thien A. Nguyen, Alexander W. Lehr, Katherine W. Roche   +3 more
doaj   +1 more source

Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition [PDF]

, 2010
In birds, as in mammals, one pair of chromosomes differs between the sexes. In birds, males are ZZ and females ZW. In mammals, males are XY and females XX.
BT Lahn, Colin Kremitzki, DA Benson, DA Filatov, Daniel W. Bellott, David C. Page, DL Wheeler, Elaine R. Mardis, ES Lander, F Grützner, GJ Wyckoff, GM Saifl, H Skaletsky, HA Wichman, Helen Skaletsky, HJ Muller, I Korf, I Nanda, I Nanda, International Chicken Genome Sequen, JJ Smith, JW Wallis, Laura G. Brown, LJL Handley, M Kasahara, M Morisson, M Nicolas, MJ Scanlan, MT Ross, P Flicek, PE Boardman, R Saxena, Richard K. Wilson, S Griffiths-Jones, S Ohno, SF Altschul, Steve Rozen, T Ezaz, T Hori, T Kuroda-Kawaguchi, Tatyana Pyntikova, Tina Graves, TJ Hubbard, TM Lowe, W Rens, Wesley C. Warren, WJ Kent, WJ Swanson, WR Rice   +48 more
core   +2 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

The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary [PDF]

, 1994
Fluorescencein situ hybridization (FISH) of microlibraries established from distinct chromosome subregions can test the evolutionary conservation of chromosome bands as well as chromosomal rearrangements that occurred during primate evolution and will ...
A Baldini, A Jauch, A. Jauch, B Dutrillaux, B. Horsthemke, C Lengauer, C Lengauer, C Lengauer, C. Lengauer, D Pinkel, G. Senger, H-J Lüdecke, H. -J. L�decke, J Wienberg, J Wienberg, J. Wienberg, JJ Yunis, JW Ijdo, LEM Boer de, M Djalali, M Klever, N. Arnold, P Lichter, R Avarello, R Stanyon, R Stanyon, RA Wells, T Cremer, T Ried, T. Cremer, U Trautmann, U. Claussen, Z Gelman-Kohan   +32 more
core   +1 more source

Frequent gene conversion events between the X and Y homologous chromosomal regions in primates

BMC Evolutionary Biology, 2010
Background Mammalian sex-chromosomes originated from a pair of autosomes. A step-wise cessation of recombination is necessary for the proper maintenance of sex-determination and, consequently, generates a four strata structure on the X chromosome.
Hirai Hirohisa, Satta Yoko, Iwase Mineyo, Hirai Yuriko, Takahata Naoyuki   +4 more
doaj   +1 more source

Data supporting the design and evaluation of a universal primer pair for pseudogene-free amplification of HPRT1 in real-time PCR

Data in Brief, 2015
Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a common housekeeping gene for sample normalization in the quantitative reverse transcriptase polymerase chain (qRT-PCR).
Reza Valadan, Akbar Hedayatizadeh-Omran, Mahdyieh Naghavi Alhosseini-Abyazani, Omolbanin Amjadi, Alireza Rafiei, Mohsen Tehrani, Reza Alizadeh-Navaei   +6 more
doaj   +1 more source

A Computational Approach to Estimating Nondisjunction Frequency in Saccharomyces cerevisiae. [PDF]

, 2016
Errors segregating homologous chromosomes during meiosis result in aneuploid gametes and are the largest contributing factor to birth defects and spontaneous abortions in humans.
Burgess, Sean M, Chu, Daniel B
core   +3 more sources

InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]

, 2016
Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet, Bansal, Vikas, Edge, Peter, Patel, Anand, Selvaraj, Siddarth   +4 more
core   +2 more sources

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
A Gnirke, AHN Hopman, AR Mitchell, C Huxley, C Lengauer, Christoph Lengauer, D Pinkel, ED Green, EW Jabs, HF Willard, HF Willard, HF Willard, HM Rosenberg, Ian Dunham, J Anastasi, J Meyne, JE Koch, JS Waye, JS Waye, JS Waye, L Manuelidis, L Manuelidis, M Klever, P Emmerich, PJ Poddighe, PR Langer, S Popp, T Cremer, T Cremer, T Cremer, T Imai, T Maniatis, Terry Featherstone, Thomas Cremer   +33 more
core   +1 more source