Results 71 to 80 of about 147,278 (285)

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

Mitotic karyotype of the tropical freshwater crayfish Procambarus (Austrocambarus) llamasi (Decapoda: Cambaridae)

Revista de Biología Tropical, 2010
In Mexico, the biology of Procambarus has been more studied than the biology of other Cambarids because of its diversity and potential use in aquaculture. We determined the karyotype of the Mexican tropical freshwater crayfish Procambarus (Austrocambarus)
Jeane R Indy, Lenin Arias-Rodriguez, Salomón Páramo-Delgadillo, Ulises Hernández- Vidal, Carlos A Álvarez-González, Wilfrido M Contreras-Sánchez   +5 more
doaj  

Karyotype analysis of Minuartia mesogitana subsp. mesogitana and Minuartia elmalia (Caryophyllaceae, Alsinoideae).

Boletín de la Sociedad Argentina de Botánica, 2016
Mitotic metaphase chromosomes, karyotypic characters, monoploid karyograms and ideograms of Minuartia mesogitana subsp. mesogitana and Minuartia elmalia were investigated.
O?uz Yüce, Halil Erhan Ero?lu, Murat Koç, Ergin Hamzao?lu   +3 more
doaj   +1 more source

C-banding, fluorescent staining and NOR location in holokinetic chromosomes of bugs of the Neotropical genus Antiteuchus (Heteroptera: Pentatomidae: Discocephalinae) [PDF]

, 2006
Different cytogenetic techniques including C-banding, base-specific fluorochromes and silver nitrate staining were used to compare the karyotypes of three species of bugs, representatives of the Neotropical genus Antiteuchus, namely A.
de Souza, Maria José, Lanzone, Cecilia
core   +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

Caracterización cariotípica en mitosis y meiosis del robalo blanco Centropomus undecimalis (Pisces: Centropomidae)

Revista de Biología Tropical, 2011
El robalo blanco Centropomus undecimalis, vive en hábitats marinos, salobres y dulceacuícolas en el océano Atlántico occidental, incluyendo el golfo de México. La especie, es económicamente importante en varias localidades, no obstante los estudios sobre
Lenin Arias-Rodriguez, Jeane R. Indy, Rosa I. Ahumada-Hernández, Helen Barragán-Cupido, Antonieta A. Ávalos-Lázaro, Salomón Páramo-Delgadillo   +5 more
doaj  

9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome [PDF]

, 2019
The increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations.
Correia, Hildeberto, Ferreira, Cristina, Gonçalves, Rui, Marques, Barbara, Pedro, Sonia, Serafim, Silvia, Tarelho, Ana Rita   +6 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

Karyotype and male pre-reductional meiosis of the sharpshooter Tapajosa rubromarginata (Hemiptera: Cicadellidae)

Revista de Biología Tropical, 2011
Cicadellidae in one of the best represented families in the Neotropical Region, and the tribe Proconiini comprises most of the xylem-feeding insects, including the majority of the known vectors of xylem-born phytopathogenic organisms. The cytogenetics of
Graciela R de Bigliardo, Eduardo Gabriel Virla, Sara Caro, Santiago Murillo Dasso   +3 more
doaj  

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source