Results 121 to 130 of about 2,712,368 (347)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

New Insights on Chromosome Diversification in Malagasy Chameleons

Animals
In this work, we performed a preliminary molecular analysis and a comparative cytogenetic study on 5 different species of Malagasy chameleons of the genus Brookesia (B. superciliaris) and Furcifer (F. balteautus, F. petteri, F. major and F. minor). A DNA
Marcello Mezzasalma, Gaetano Odierna, Rachele Macirella, Elvira Brunelli   +3 more
doaj   +1 more source

Chromosome complement and meiosis in three species of the Neotropical bug genus Antiteuchus (Heteroptera, Pentatomidae, Discocephalinae) [PDF]

, 2006
Orcein staining of spermatocytes was used to study the meiotic behavior of holocentric chromosomes in three member of the genus Antiteuchus (commonly known as stink bugs). We describe and illustrate the karyotype of Antiteuchus mixtus, A. sepulcralis and
de Souza, Maria José, Lanzone, Cecilia
core   +2 more sources

Cold Fusion: Massive Karyotype Evolution in the Antarctic Bullhead Notothen Notothenia coriiceps

G3: Genes, Genomes, Genetics, 2017
Half of all vertebrate species share a series of chromosome fusions that preceded the teleost genome duplication (TGD), but we do not understand the causative evolutionary mechanisms.
A. Amores, Catherine A. Wilson, Corey A. H. Allard, H. Detrich, J. Postlethwait   +4 more
semanticscholar   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Genomic insights into karyotype evolution and adaptive mechanisms in Polygonaceae species

Cell Reports
Summary: Polygonaceae, with ecological versatility and global distribution, is an ideal system for investigating plant adaptation. However, the genomic mechanisms underlying its karyotype evolution and environmental resilience remain unclear.
Ze Liu, Minghao Li, Yu Wang, Tao Li, Wei Li, Longsheng Xing, Huilong Du, Qiang He   +7 more
doaj   +1 more source

Karyotype of Hynobius fucus Lai et Lue, 2008, a salamander endemic to Taiwan with comments in memory of June-Shian Lai, a pioneer in studies of mountainous salamanders (Urodela, Hynobiidae) [PDF]

Comparative Cytogenetics
The chromosome number of Hynobius fucus was found by Lai and Lue (2008) to be 2n = 58, displaying a karyomorph similar to those previously reported in stream-type salamanders from Taiwan.
Koji Iizuka, Hiroyuki Koishi, Nikolay A. Poyarkov, Yoshinori Takeuchi, Yu-Ten Ju   +4 more
doaj   +3 more sources

Duplex DNA from Sites of Helicase-Polymerase Uncoupling Links Non-B DNA Structure Formation to Replicative Stress [PDF]

, 2020
BACKGROUND: Replication impediments can produce helicase-polymerase uncoupling allowing lagging strand synthesis to continue for as much as 6 kb from the site of the impediment.
Abdelhamid, Mahmoud A S, Amparo, Camille, Bedell, Victoria, Clark, Jarrod, Martella, Marianna, Murata-Collins, Joyce L, Pichiorri, Flavia, Smith, Steven S, Waller, Zoë A E, Warner, Emily F   +9 more
core   +2 more sources

Chromosome Evolution in the Free-Living Flatworms: First Evidence of Intrachromosomal Rearrangements in Karyotype Evolution of Macrostomum lignano (Platyhelminthes, Macrostomida)

Genes, 2017
The free-living flatworm Macrostomum lignano is a hidden tetraploid. Its genome was formed by a recent whole genome duplication followed by chromosome fusions.
K. Zadesenets, N. Ershov, Eugene Berezikov, N. Rubtsov   +3 more
semanticscholar   +1 more source

Karyotype evolution and speciation in Orthoptera

Journal of Evolutionary Biology
Abstract Karyotype evolution might fuel speciation and can thereby contribute to species diversity. To test the hypothesis that speciation and karyotype change are linked, we estimated anagenetic and cladogenetic rates of karyotype evolution as well as speciation rates in Orthoptera. We compiled the male diploid chromosome number and the
Octavio M Palacios-Gimenez, Elio R D Castillo, Holger Schielzeth   +2 more
openaire   +4 more sources