Results 31 to 40 of about 80,578 (289)

INFORMATION TECHNOLOGIES IN THE ASSESSMENT OF THE PREIMPLANTATION GENETIC DIAGNOSIS EFFICIENCY IN THE FIELD OF ASSISTED REPRODUCTIVE TECHNOLOGIES

Medična Informatika ta Inženerìâ, 2012
Application of the information technologies is becoming increasingly important in the practice of molecular and cytogenetic analysis of chromosomal abnormalities in particular on the preimplantation level.
S. V. Denysenko
doaj   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

Journal of Medical Case Reports, 2022
Background Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32 ...
Tomomi Kotani, Hiroyuki Tsuda, Yumiko Ito, Noriyuki Nakamura, Takafumi Ushida, Kenji Imai, Yukako Iitani, Kazuya Fuma, Yukako Muramatsu, Masahiro Hayakawa, Hiroaki Kajiyama   +10 more
doaj   +1 more source

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Familiar del3p syndrome: The uncertainty of the prognosis. A case report

Clinical Case Reports, 2021
The 3p deletion syndrome is an unusual condition. The few cases described are mainly de novo. We described a familial case detected in a prenatal diagnosis.
Márcia Martins, Regina Arantes, Pedro Botelho, Marta Souto, Osvaldo Moutinho, Rosário Pinto Leite   +5 more
doaj   +1 more source

Clinical applications of comparative genomic hybridization [PDF]

Genetics in Medicine, 1998
Comparative genomic hybridization (CGH) is a powerful DNA-based cytogenetic technique that allows the entire genome to be scanned for chromosomal imbalances without requiring the sample material to be mitotically active. During the past 2 years we received many requests from various medical centers around the country to use CGH to resolve the identity ...
B, Levy, T M, Dunn, S, Kaffe, N, Kardon, K, Hirschhorn   +4 more
openaire   +2 more sources

Characterizing the salivary RNA landscape to identify potential diagnostic, prognostic, and follow‐up biomarkers for breast cancer

Molecular Oncology, EarlyView.
This study explores salivary RNA for breast cancer (BC) diagnosis, prognosis, and follow‐up. High‐throughput RNA sequencing identified distinct salivary RNA signatures, including novel transcripts, that differentiate BC from healthy controls, characterize histological and molecular subtypes, and indicate lymph node involvement.
Nicholas Rajan, Irina Primac, Emre Etlioglu, Laurens Debruyne, Ann Janssen, Magy Sallam, Kevin Tabury, Roel Quintens, Wiebren Tjalma, Mohammed Abderrafi Benotmane   +9 more
wiley   +1 more source

Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis

Neural Regeneration Research, 2016
Copy number variations have been found in patients with neural tube abnormalities. In this study, we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome ...
Qiu-jiong Zhao, Shao-cong Bai, Cheng Cheng, Ben-zhang Tao, Le-kai Wang, Shuang Liang, Ling Yin, Xing-yi Hang, Ai-jia Shang   +8 more
doaj   +1 more source

Image analysis in comparative genomic hybridization [PDF]

Cytometry, 1995
AbstractComparative genomic hybridization (CGH) is a new technique by which genomic imbalances can be detected by combining in situ suppression hybridization of whole genomic DNA and image analysis. We have developed software for rapid, quantitative CGH image analysis by a modification and extension of the standard software used for routine karyotyping
C, Lundsteen, J, Maahr, B, Christensen, T, Bryndorf, M, Bentz, P, Lichter, T, Gerdes   +6 more
openaire   +2 more sources

Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology

Molecular Oncology, EarlyView.
Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts, Senada Koljenović, Elise Daems, Karolien De Wael, Marc Peeters, Léon C. van Kempen, Greetje Vanhoutte, Karen Zwaenepoel, Timon Vandamme   +8 more
wiley   +1 more source