Results 121 to 130 of about 233,721 (401)

Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia

Journal of the ASEAN Federation of Endocrine Societies, 2019
Objective. Diagnosis of Turner syndrome in Malaysia is often late. This may be due to a lack of awareness of the wide clinical variability in this condition.
Yee Lin Lee, Loo Ling Wu
doaj   +1 more source

Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. [PDF]

, 2009
Progress in the management of patients with myelodysplastic syndromes (MDS) has been hampered by the inability to detect cytogenetic abnormalities in 40-60% of cases.
Bueso-Ramos, CE, Estey, EH, Garcia-Manero, G, Gilliland, DG, Heinrichs, S, Issa, J-P, Kantarjian, HM, Kornblau, SM, Kulkarni, RV, Levine, RL, Li, C, Loh, ML, Look, AT, Neuberg, D   +13 more
core   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Genomes of two Extinct‐in‐the‐Wild reptiles from Christmas Island reveal distinct evolutionary histories and conservation insights

Molecular Ecology Resources, EarlyView., 2023
Abstract Genomics can play important roles in biodiversity conservation, especially for Extinct‐in‐the‐Wild species where genetic factors greatly influence risk of total extinction and probability of successful reintroductions. The Christmas Island blue‐tailed skink (Cryptoblepharus egeriae) and Lister's gecko (Lepidodactylus listeri) are two endemic ...
Tristram O. Dodge, Katherine A. Farquharson, Claire Ford, Lisa Cavanagh, Kristen Schubert, Molly Schumer, Katherine Belov, Carolyn J. Hogg   +7 more
wiley   +1 more source

Karyotype asymmetry: again, how to measure and what to measure?

Comparative Cytogenetics, 2013
One of the most popular, cheap and widely used approaches in comparative cytogenetics – especially by botanists – is that concerning intrachromosomal and interchromosomal karyotype asymmetry. Currently, there is no clear indication of which method, among
L. Peruzzi, H. Eroğlu
semanticscholar   +1 more source

Molecular cytogenetic differentiation of paralogs of Hox paralogs in duplicated and re-diploidized genome of the North American paddlefish (Polyodon spathula). [PDF]

, 2017
BackgroundAcipenseriformes is a basal lineage of ray-finned fishes and comprise 27 extant species of sturgeons and paddlefishes. They are characterized by several specific genomic features as broad ploidy variation, high chromosome numbers, presence of ...
Amemiya, Chris T, Flajšhans, Martin, Gela, David, Havelka, Miloš, Howell, William Mike, Kořínková, Tereza, Ráb, Petr, Symonová, Radka   +7 more
core   +4 more sources

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Assembly of female and male hihi genomes (stitchbird; Notiomystis cincta) enables characterization of the W chromosome and resources for conservation genomics

Molecular Ecology Resources, EarlyView., 2023
Abstract A high‐quality reference genome can be a valuable resource for threatened species by providing a foundation to assess their evolutionary potential to adapt to future pressures such as environmental change. We assembled the genome of a female hihi (Notiomysits cincta), a threatened passerine bird endemic to Aotearoa New Zealand.
Sarah Bailey, Joseph Guhlin, Dinindu S. Senanayake, Phoebe Scherer, Patricia Brekke, John G. Ewen, Anna W. Santure, Annabel Whibley   +7 more
wiley   +1 more source

Karyotypic characterization of Prochilodus mariae, Semaprochilodus kneri and S. laticeps(Teleostei: Prochilodontidae) from Caicara del Orinoco, Venezuela

Neotropical Ichthyology
Fish of the family Prochilodontidae are considered one of the most important components of commercial and subsistence fishery in freshwater environments in South America. This family consists of 21 species and three genera.
Claudio Oliveira, Mauro Nirchio, Ángel Granado, Sara Levy   +3 more
doaj   +1 more source

Karyotypes of european species of radix (Gastropoda: Pulmonata: Lymnaeidae) and their relevance to species distinction in the genus [PDF]

, 2003
Karyotypes of Radix auricularia (Linnaeus, 1758) and three disputable taxa considered by different authors as distinct species or assigned as forms of Radix peregra (Muller, 1774), sensu lato - R. labiata (Rossmassler, 1835), R.
Garbar, А. V., Komіushіn, А. V.
core