Results 221 to 230 of about 168,262 (369)

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Susceptibility testing breakpoints forMycobacterium tuberculosiscategorize isolates with resistance mutations ingyrAas susceptible to fluoroquinolones: implications for MDR-TB treatment and the definition of XDR-TB [PDF]

, 2015
Katarina Niward, Kristian Ängeby, Erja Chryssanthou, Jakob Paues, Judith Bruchfeld, Pontus Juréen, Christian G. Giske, Gunnar Kahlmeter, Thomas Schön   +8 more
openalex   +1 more source

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

Clinical breakpoint meropenem concentration modulate outer membrane vesicle production in enterotoxigenic Bacteroides fragilis. [PDF]

Arch Microbiol
Kozhakhmetova S, Bekbayeva A, Zholdybayeva E, Krivoruchko T, Dashevskaya N, Vinogradova E, Kamzayeva N, Khassenbekova Z, Kushugulova A, Kozhakhmetov S.   +9 more
europepmc   +1 more source

Results from the Survey of Antibiotic Resistance (SOAR) 2018–21 in Italy and Spain: data based on CLSI, EUCAST (dose-specific) and pharmacokinetic/pharmacodynamic (PK/PD) breakpoints [PDF]

Didem Törümküney, Rafael Cantón, Cristina Pitart, Maurizio Sanguinetti, Chiara Vismara, Claudio Farina, Vittorio Sambri, Stephen Hawser, Anand Manoharan   +8 more
openalex   +1 more source

Identification of an elevational breakpoint where climatic signal changes for the growth of Larix decidua tree rings in a glacier-fed river basin in the Swiss Alps

, 2023
Nazimul Islam, Stuart N. Lane, Torsten Vennemann, David M. Meko, David Meko   +4 more
openalex   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Clinical pain intensity is associated with greater cannabis demand among people who regularly use cannabis. [PDF]

Pain Rep
Bush NJ, Ferguson E, Funez-Ponce M, Yurasek A, Boissoneault J.   +4 more
europepmc   +1 more source

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

Nature Genetics, 2010
D. Conrad, C. Bird, Benjamin P. Blackburne, S. Lindsay, L. Mamanova, Charles Lee, D. Turner, M. Hurles   +7 more
semanticscholar   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source