Results 301 to 310 of about 142,560 (388)

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Running chromosome analysis in leukemia or not, upfront or later? [PDF]

Haematologica
Zhang Y.
europepmc   +1 more source

Pachytene karyotypes in the genus Crotalaria L. (Leguminosae).

, 1978
Rani Gupta, P. K. Gupta
openalex   +2 more sources

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Cell line authentication using optical genome mapping. [PDF]

BMC Genomics
Chialastri A, Flowers K, Cogburn LA, Fink D, Dashnau JL.   +4 more
europepmc   +1 more source

Loss of 18q Alters TGFβ Signalling Affecting Anteroposterior Neuroectodermal Fate in Human Embryonic Stem Cells

Cell Proliferation, EarlyView.
hESCsdel18q exhibit delayed and impaired anterior neuroectoderm induction, leading to deficient RPE specification. hESCsdel18q lines showed dysregulation of TGFβ signalling, and endogenous overactivation of activin/nodal/TGFβ in hESCsdel18q leads to improper anterior/posterior neuroectodermal fate commitments.
Yingnan Lei, Mai Chi Duong, Nuša Krivec, Charlotte Janssens, Marius Regin, Anfien Huyghebaert, Edouard Couvreu de Deckersberg, Karen Sermon, Diana Al Delbany, Claudia Spits   +9 more
wiley   +1 more source

Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies. [PDF]

Front Genet
Liu JP, Wang SB, Luo L, Guo YM.
europepmc   +1 more source

Primary CD34+ cells of patients with vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) syndrome are highly sensitive to targeted treatment with TAK‐243

British Journal of Haematology, EarlyView.
Daniel Nowak, Marie Demmerle, Alessa Klär, Alexander Streuer, Vladimir Riabov, Eva Altrock, Felicitas Rapp, Ann‐Christin Belzer, Teresa Klink, Meret Hahn, Franziska Hofmann, Verena Nowak, Nadine Weimer, Julia Obländer, Iris Palme, Melda Göl, Ali Darwich, Laurenz Steiner, Mohammed Abba, Georgia Metzgeroth, Wolf‐Karsten Hofmann, Nanni Schmitt   +21 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging (neurosonography and intrauterine magnetic resonance imaging) of fetuses ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source