Results 81 to 90 of about 42,553 (305)

Chromosome Evolution in New World Monkeys (Platyrrhini) [PDF]

, 2012
During the last decades, New World monkey (NWM, Platyrrhini, Anthropoideae) comparative cytogenetics has shed light on many fundamental aspects of genome organisation and evolution in this fascinating, but also highly endangered group of neotropical ...
de Oliveira, E. H. C., Müller, Stefan, Neusser, Michaela   +2 more
core   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Unlocking the potential of anti-CD33 therapy in adult and childhood acute myeloid leukaemia [PDF]

, 2017
Acute Myeloid Leukaemia (AML) develops when there is a block in differentiation and uncontrolled proliferation of myeloid precursors, resulting in bone marrow failure.
Gibson, Brenda E.S., Harrison, Christine J., Keeshan, Karen, Laing, Alison A.   +3 more
core   +1 more source

Rates of karyotype evolution in placental mammals [PDF]

Hereditas, 2009
The genera of eutherian mammals have been divided into two groups depending on whether the animals in the genera have high or low rates of karyotype evolution. The rate of karyotype evolution in a genus is estimated by the standard deviation of the chromosome numbers within the genus.
openaire   +2 more sources

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Cytogenetic and comparative morphology of two allopatric populations of Astyanax altiparanae Garutti & Britski, 2000 (Teleostei: Characidae) from upper rio Paraná basin

Neotropical Ichthyology
The recently described fish species, Astyanax altiparanae (tetra) is common in the upper rio Paraná basin, and has been reported in the Iguaçu basin. However, its natural origin in the rio Iguaçu is questionable.
Manoela de S. Domingues, Marcelo R. Vicari, Vinícius Abilhoa, João P. Wamser, Marta M. Cestari, Luiz A. C. Bertollo, Mara C. de Almeida, Roberto F. Artoni   +7 more
doaj   +1 more source

The early evolutionary history of neo-sex chromosomes in Neotropical grasshoppers, Boliviacris noroestensis (Orthoptera: Acrididae: Melanoplinae) [PDF]

, 2014
Neo-sex chromosomes are an important component of chromosome variation in Orthoptera, particularly South American Melanoplinae species, which have proven to be outstanding experimental model system to study the mechanism of sex chromosome evolution in ...
Castillo, Elio Rodrigo Daniel, Marti, Dardo Andrea, Taffarel, Alberto   +2 more
core   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 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