Results 151 to 160 of about 17,833 (262)

Sex chromosomal aberration and their modes of presentation.

Indian pediatrics, 1983
M A, Phadke, A S, Joshi, A S, Limaye, L M, Hiremath, S L, Kate, V A, Khedkar, A G, Verma   +6 more
openaire   +1 more source

Continental accumulation of fads2 copy numbers allows sticklebacks to thrive across a diversity of nutritional landscapes

Oikos, EarlyView.
Nutrients, including vital organic compounds, vary in availability across ecosystems, with the potential to act as a source of selection for traits that increase nutrient acquisition and biosynthesis. Compared to freshwaters, marine ecosystems are richer in the omega‐3 long‐chain polyunsaturated fatty acid (n‐3 LC‐PUFA) docosahexaenoic acid (DHA ...
Cornelia W. Twining, Cameron M. Hudson, Jernej Bravničar, Antonella Carosi, Gaël P. J. Denys, Philine G. D. Feulner, Žiga Fišer, Hanna Rosinger, Verena Saladin, Linda Zanella, Davor Zanella, Catherine L. Peichel, Blake Matthews   +12 more
wiley   +1 more source

Investigation of balanced chromosomal aberrations prevalence in healthy Turkish Cypriot couples. [PDF]

Glob Med Genet
Deryali D, Cobanogullari H, Ergoren MC.
europepmc   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Recent advances in the molecular genetic mechanisms and immune microenvironment of uveal melanoma. [PDF]

Melanoma Res
Yang K, Wu D.
europepmc   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

IDH1- and IDH2-mutated myeloid neoplasms: mutational pattern, clonal hierarchy, and the role in AML transformation. [PDF]

Blood Adv
Huber S, Goessweiner F, Walter W, Summerer I, Meggendorfer M, Ordemann R, Pohlkamp C, Kneisel N, Haferlach C, Kern W, Haferlach T, Delic S, Hoermann G.   +12 more
europepmc   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly, Louise McClelland, Pierpaola Tannorella, Tanja Richter, Ester Mainini, Andreas Dufke, Annette Lischka, Matthias Begemann, Katja Eggermann, Thomas Eggermann, Silvia Russo   +10 more
wiley   +1 more source

Identification of the <i>HMGA2</i>::<i>CIBAR1-DT</i> fusion transcript in two lipomas with chromosomal rearrangements involving chromosomes 8 and 12. [PDF]

Front Oncol
Brunetti M, Andersen K, Lobmaier I, Micci F.   +3 more
europepmc   +1 more source

Natural History of Fetal Non‐Nuchal Lymphatic Malformations: A Single Center Retrospective Study

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To document the natural history and complications of second‐ and third‐trimester non‐nuchal lymphatic malformations (LM) and identify predictors of these complications. Methods We conducted a single‐centre retrospective review of fetuses diagnosed with LMs between January 2015 and January 2024.
Yada Kunpalin, Dilkash Kajal, Lennart Van der Veeken, David Chitayat, Manuel Carcao, Paolo Campisi, Greg Ryan, Shiri Shinar, Tim Van Mieghem   +8 more
wiley   +1 more source