Results 131 to 140 of about 22,210,683 (294)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Karyotype analysis of Ethiopian endemic Kniphofia species

, 2013
Image analysis was used to study the karyotype of six Ethiopian Kniphofia species: K. foliosa, K. hildebrandtii, K. insignis, K. isoetifolia, K. schimperi and K. pumila. The first five are endemic to Ethiopia.
Nordal, Inger, Teklehaymanot, Tilahun, Demissew, Sebsebe, Bekele, Endeshaw   +3 more
core   +1 more source

In‐frame variants in TP53 gene identified in adult leukemia samples are predominantly deleterious: a study of the TP53 Network of Education and Research Initiative on CLL

The Journal of Pathology, EarlyView.
Abstract The prognostic and predictive impact of TP53 variants in leukemia led to their inclusion in diagnostic and treatment guidelines, increasing the demand for rapid, reliable laboratory analysis, interpretation, and reporting. While most TP53 variants identified in tumor samples can be interpreted using data from large‐scale functional studies ...
Šárka Pavlová, Johana Gombíková, Silvia Petrezsélyová, Libor Macůrek, Marcela Ženatová, Marie Zádrapová, Anna Panovská, Eva Zapletalová, Blanca Ferrer Lores, Alicia Serrano Alcalá, Eugen Tausch, Stephan Stilgenbauer, Fanny Baran‐Marszak, Gregory Lazarian, Miguel Alcoceba, Ana Balanzategui, Lisa Bonello, Ivana Ježíšková, Martina Sopkovičová, Silvia Zibellini, Marzia Varettoni, Audrey Bidet, Helena Podgornik, Sandra Šućurović, Riccardo Moia, Mónica López‐Guerra, Mark Catherwood, Šárka Pospíšilová, Jitka Malčíková   +28 more
wiley   +1 more source

Characteristics and karyotype analysis of a patient with turner syndrome complicated with multiple-site tumors: A case report. [PDF]

Open Life Sci, 2022
Yang L, Yang Y, Qin Y, Feng YQ, Xie LL, Zhang DG.   +5 more
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Comparative Karyotype Analysis of Parasitoid Hymenoptera (Insecta): Major Approaches, Techniques, and Results. [PDF]

Genes (Basel), 2022
Gokhman VE.
europepmc   +1 more source

Karyotype analysis of short-term cultured glioma cells

, 2013
Freshly isolated glioma cells were cultured and analyzed for karyotype between passage 3 to 4. The number in brackets represents the number of the indicated karyotype.
Annette Persson (377838), Dongping Tian (324731), Leif G. Salford (255632), David Gisselsson (23248), Johan Rebetz (255622), Bengt Widegren (255631), Elisabet Englund (377839), Xiaolong Fan (255637)   +7 more
core   +1 more source

A successful in vitro fertilization outcome in a hermaphrodite male

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 424-425, April 2025.
Shima Elbakhit M. E. Albasha, Sami Saadi Al‐Said, Haitham Tharwat M. H. El Bardisi   +2 more
wiley   +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

Karyotype Analysis, Genomic and Fluorescence In Situ Hybridization (GISH and FISH) Reveal the Ploidy and Parental Origin of Chromosomes in Paeonia Itoh Hybrids. [PDF]

Int J Mol Sci, 2022
Cui L, Chen T, Zhao X, Wang S, Wang S, Ren X, Xue J, Zhang X.   +7 more
europepmc   +1 more source