Results 121 to 130 of about 44,278 (289)

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Distinctive Patterns of MicroRNA Expression Associated with Karyotype in Acute Myeloid Leukaemia

, 2008
Amanda Dixon‐McIver, Philip East, Charles A. Mein, Jean‐Baptiste Cazier, Gael Molloy, Tracy Chaplin, T. Andrew Lister, Bryan D. Young, Silvana Debernardi   +8 more
openalex   +2 more sources

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

Trisomy Xq and Xp Deletion Phenotype in a Case with Primary Amenorrhea and Mosaic 45,X/46,X,der(X) Karyotype: Case Report [PDF]

, 2011
Nurten Kara, Gülsen Ökten, Şengül Tural, Sevilhan Artan, Özlem Sezer, İdrıs Koçak   +5 more
openalex   +1 more source

Spectral Karyotyping

, 2003
Jane, Bayani, Jeremy A, Squire
openaire   +2 more sources

Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries, Arda Arduc, Elisabeth van Leeuwen, Maria B. Tan – Sindhunata, Peter Struijs, Melinda Witbreuk, Ingeborg H. Linskens, Eva Pajkrt   +7 more
wiley   +1 more source

The Ancestral Carnivore Karyotype As Substantiated by Comparative Chromosome Painting of Three Pinnipeds, the Walrus, the Steller Sea Lion and the Baikal Seal (Pinnipedia, Carnivora)

, 2016
Violetta R. Beklemisheva, Polina L. Perelman, Natalya A. Lemskaya, Anastasia I. Kulemzina, Anastasia A. Proskuryakova, Vladimir N. Burkanov, Alexander S. Graphodatsky   +6 more
openalex   +2 more sources

Comparison of Karyotypes in Two Hybridizing Passerine Species: Conserved Chromosomal Structure but Divergence in Centromeric Repeats [PDF]

, 2021
Manon Poignet, Martina Pokorná, Marie Altmanová, Zuzana Majtánová, Dmitrij Dedukh, Tomáš Albrecht, Jiří Reif, Tomasz S. Osiejuk, Radka Reifová   +8 more
openalex   +1 more source

Multiple pregnancy with complete hydatidiform mole and coexisting normal fetus: systematic review and meta‐analysis of clinical outcomes from non‐randomized studies

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Complete hydatidiform mole and coexisting normal fetus (CHMCF) is a rare condition for which there is significant heterogeneity in diagnosis, counseling and management of complications. The objective of this study was to summarize the prevalence of clinical outcomes in reported cases of CHMCF.
N. Salmeri, A. Pizzetti, E. Grassi, R. Cioffi, G. Mangili, M. Seckl, A. Sotiriadis, M. Candiani, P. I. Cavoretto   +8 more
wiley   +1 more source

Karyotype analysis and achiasmatic meiosis in pseudoscorpions of the family Chthoniidae (Arachnida: Pseudoscorpiones) [PDF]

, 2004
FRANTIŠEK ŠÁHLAVSKÝ, Jiří Král
openalex   +1 more source