Results 161 to 170 of about 168,262 (369)

A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer [PDF]

, 1990
Clara Camaschella, Angelo Serra, E Gottardi, A Alfarano, D. Revello, U Mazza, Giuseppe Saglio   +6 more
openalex   +1 more source

Site-specific DNA cleavage within the MLL breakpoint cluster region induced by topoisomerase II inhibitors [see comments] [PDF]

, 1996
PD Aplan, DS Chervinsky, Martin Stanulla, WC Burhans   +3 more
openalex   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

AA breakpoint graphs

, 2020
Jens-Christian Luebeck
openalex   +1 more source

Interphase FISH detection ofBCL2 rearrangement in follicular lymphoma using breakpoint-flanking probes [PDF]

, 2000
Jan‐Willem Vaandrager, Ed Schuuring, Ton Raap, Katja Philippo, Karin Kleiverda, Philip M. Kluin   +5 more
openalex   +1 more source

Reevaluating Rifampicin Breakpoint Concentrations for Mycobacterium tuberculosis Isolates with Disputed rpoB Mutations and Discordant Susceptibility Phenotypes

, 2022
Wei Wang, Rongmei Liu, Cong Yao, Fengmin Huo, Yuanyuan Shang, Xuxia Zhang, Yufeng Wang, Zhongtan Xue, Liping Ma, Yu Pang   +9 more
openalex   +1 more source

Truncated FOS impairs osteogenic differentiation and induces prostaglandin and NFκB signalling in an in vitro cell‐of‐origin model for osteoid osteoma and osteoblastoma

The Journal of Pathology, EarlyView.
Abstract Osteoid osteoma and osteoblastoma are non‐malignant bone‐forming tumours of the skeleton, characterised by the presence of irregular trabeculae of woven bone. Rearrangements in FOS, and less frequently FOSB, have recently been identified in osteoid osteoma and osteoblastoma.
Suk Wai Lam, Tatiana Belova, Natasja Franceschini, Brendy van den Akker, David GP van IJzendoorn, Harald MM Mikkers, Hailiang Mei, Anne‐Marie Cleton‐Jansen, Marieke L Kuijjer, Karoly Szuhai, Judith VMG Bovée   +10 more
wiley   +1 more source

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Characterizing PALB2 intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing [PDF]

I Ban, Alice Chabert, Thomas Guignard, Jacques Puechberty, Simon Cabello‐Aguilar, Pascal Pujol, Julie A. Vendrell, Jérôme Solassol   +7 more
openalex   +1 more source

Cephalexin susceptibility breakpoint for veterinary isolates: Clinical Laboratory Standards Institute revision [PDF]

, 2017
Mark G. Papich, Cindy J. Lindeman
openalex   +1 more source