Results 41 to 50 of about 49,297 (181)

Preimplantation genetic testing: method and two case studies of familial three-way complex translocations

Biotechnology & Biotechnological Equipment, 2019
Preimplantation genetic testing (PGT) is presently the only option available for detecting genetic conditions in embryos created through in vitro fertilization (IVF) prior to implantation.
Slavyana Yaneva Staykova, Rada Staneva, Georgi Stamenov, Maria Pancheva, Maria Serafimova, Kristina Nikolova, Draga Toncheva, Savina Hadjidekova   +7 more
doaj   +1 more source

CML with complex chromosome rearrangements and dysplastic megakaryocytes [PDF]

Blood, 2016
![Figure][1] A 41-year-old man presented with anemia (hemoglobin 112 g/dL), leukocytosis (white blood cells 158.85 × 109/L) including basophilia (15.44 × 109/L), and thrombocytosis (platelets 467 × 109/L).
Zhaodong, Xu, Jean, McGowan-Jordan
openaire   +2 more sources

CONGENITAL COMPLEX CHROMOSOME REARRANGEMENTS (CCR) [PDF]

Pediatric Research, 1987
Congenital OCR have been reported in over 50 patients divided into a familial and de novo categories. Between 1982 and 1986 we saw three unrelated children with de novo (parents had nonnal karyotypes) unbalanced congenital OCR. Lymphocyte and fibroblast karyotypes were studied using G, Q, C, R and NOR banding. Patient 1.
Boris G Koisseff, Yau-Ping Essig, Richard L Neu   +2 more
openaire   +1 more source

Measurable Residual Disease Monitoring During Treatment for Pediatric Acute Myeloid Leukemia in First Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survival after relapse in pediatric acute myeloid leukemia (AML) remains poor, highlighting the critical importance of identifying prognostic factors to guide optimal relapse management. Methods We investigated the prognostic impact of multiparameter flow cytometry (MFC) measurable residual disease (MRD) in 188 patients with first ...
Camilla Poulsen, Kristian Juul Sandahl, Lene Karlsson, Jonas Abrahamsson, Nira Arad‐Cohen, Daniel Cheuk, Barbara De Moerloose, Linda Fogelstrand, Jose Maria Fernandez Navarro, Bianca F. Goemans, Kirsi Jahnukainen, Gertjan Kaspers, Zhanna Kovalova, Monica Cheng Munthe‐Kaas, Ulrika Norén‐Nyström, Josefine Palle, Ramune Pasauliene, Cornelis Jan Pronk, Kadri Saks, Anne Tierens, Henrik Hasle, Kristian Løvvik Juul‐Dam   +21 more
wiley   +1 more source

Reconstruction of karyotypic evolution in Saccharum spontaneum species by comparative oligo-FISH mapping

BMC Plant Biology, 2022
Background Karyotype dynamics driven by chromosomal rearrangements has long been considered as a fundamental question in the evolutionary genetics.
Zhuang Meng, Fei Wang, Quanliang Xie, Rong Li, Haitao Shen, Hongbin Li   +5 more
doaj   +1 more source

Clinical, Histopathological, and Molecular Characterization of Pediatric MN1::ZNF341‐Associated Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT A lethal round‐cell malignancy with an MN1::ZNF341 fusion has recently been reported in three infants. Here, we describe four further tumors, three in newborns (including monozygotic twins), and one in an adolescent. Detailed clinical, radiological, and histopathological data differentiate these tumors from their main mimics, neuroblastoma and
Thomas R. W. Oliver, Dyanne Rampling, Barbara Walkowiak, Nathaniel D. Anderson, Manas Dave, Henry Lee‐Six, Sadie Baskind, Pooja Balasubramanian, Glenn Anderson, Conor Parks, Toochi Ogbonnah, Emilia R. Robertson, Simon Hannam, Rohan Verma, John C. Achermann, Liina Palm, Neil Sebire, Thomas Jacques, Tom Watson, Carryl Dryden, Karin Straathof, Mette Jorgensen, Olga Slater, Sam Behjati, Sarita Depani, J. Ciaran Hutchinson   +25 more
wiley   +1 more source

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Molecular Cytogenetics, 2018
Background Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.
Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani   +6 more
doaj   +1 more source

The Role of Chemotherapy in Pediatric Myoepithelial Carcinoma: A Systematic Review of the Literature

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Myoepithelial carcinoma (MEC) in pediatric patients is a rare and aggressive malignancy characterized by heterogeneous morphology and variable molecular features. The optimal role of chemotherapy remains unclear. We conducted a systematic review according to PRISMA 2020 guidelines to evaluate chemotherapy in pediatric and young‐adult patients ...
Marco Salvi, Maria Carmen Affinita, Giulia Fichera, Luisa Santoro, Angela Scagnellato, Calogero Virgone, Elena Poli, Gianni Bisogno   +7 more
wiley   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source