Works matching DE "GENETIC mutation measurement"

Results: 18

Comparison of Organoid Swelling and Biomarkers of CFTR Function to Determine Effects of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for the F508del Mutation.

Published in:

2020

By:

Graeber, Simon Y.;
van Mourik, Peter;
Vonk, Annelotte M.;
Kruisselbrink, Evelien;
Hirtz, Stephanie;
van der Ent, Cornelis K.;
Mall, Marcus A.;
Beekman, Jeffrey M

Publication type:

research

Novel Documentation of Onset and Rapid Advancement of Pulmonary Arterial Hypertension without Symptoms in BMPR2 Mutation Carriers: Cautionary Tales?

Published in:

2020

By:

Amin, Elena K.;
Austin, Eric D.;
Parker, Claire;
Colglazier, Elizabeth;
Nawaytou, Hythem;
Leary, Peter J.;
Hemnes, Anna R.;
Teitel, David;
Fineman, Jeffrey R.

Publication type:

Case Study

PHorecasting Heritable Pulmonary Arterial Hypertension: Are We Nearly There Yet?

Published in:

2020

By:

Aldred, Micheala A.

Publication type:

Editorial

Hermann Muller on Measuring Mutation Rates.

Published in:

Genetics, 2016, v. 202, n. 2, p. 369, doi. 10.1534/genetics.115.186171

By:

Gelling, Cristy

Publication type:

Article

Clinicopathological features and clinical outcomes associated with TP53 and BRAFNon-V600 mutations in cutaneous melanoma patients.

Published in:

2017

By:

Kim, Dae Won;
Haydu, Lauren E.;
Joon, Aron Y.;
Bassett, Roland L.;
Siroy, Alan E.;
Tetzlaff, Michael T.;
Routbort, Mark J.;
Amaria, Rodabe N.;
Wargo, Jennifer A.;
McQuade, Jennifer L.;
Kemnade, Jan;
Hwu, Patrick;
Woodman, Scott E.;
Roszik, Jason;
Kim, Kevin B.;
Gershenwald, Jeffrey E.;
Lazar, Alexander J.;
Davies, Michael A.;
Bassett, Roland L Jr

Publication type:

journal article

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

Published in:

BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0274-6

By:

Cini, Giulia;
Mezzavilla, Massimo;
Puppa, Lara Della;
Cupelli, Elisa;
Fornasin, Alessio;
D'Elia, Angela Valentina;
Dolcetti, Riccardo;
Damante, Giuseppe;
Bertok, Sara;
Miolo, Gianmaria;
Maestro, Roberta;
de Paoli, Paolo;
Amoroso, Antonio;
Viel, Alessandra

Publication type:

Article

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.

Published in:

PLoS Genetics, 2017, v. 13, n. 11, p. 1, doi. 10.1371/journal.pgen.1007104

By:

Zhu, Xiaolin;
Padmanabhan, Raghavendra;
Copeland, Brett;
Bridgers, Joshua;
Ren, Zhong;
Kamalakaran, Sitharthan;
O'Driscoll-Collins, Ailbhe;
Berkovic, Samuel F.;
Scheffer, Ingrid E.;
Poduri, Annapurna;
Mei, Davide;
Guerrini, Renzo;
Lowenstein, Daniel H.;
Allen, Andrew S.;
Heinzen, Erin L.;
Goldstein, David B.

Publication type:

Article

Identification of a novel frameshift mutation in gene and the clinical management in an Asian Indian aniridia family.

Published in:

2018

By:

Palayil, Isham;
Priya, S. G.;
Sivan, N. V. Sarath;
Madhivanan, Nivean;
Venkatachalam, Panneer Selvam;
Jagadeesan, Madhavan

Publication type:

journal article

bz-rates: A Web Tool to Estimate Mutation Rates from Fluctuation Analysis.

Published in:

2015

By:

Gillet-Markowska, Alexandre;
Louvel, Guillaume;
Fischer, Gilles

Publication type:

Product Review

Mutational pattern of a sample from a critical branching population.

Published in:

Journal of Mathematical Biology, 2016, v. 73, n. 3, p. 627, doi. 10.1007/s00285-015-0964-2

By:

Delaporte, Cécile;
Achaz, Guillaume;
Lambert, Amaury

Publication type:

Article

In silico identification of rescue sites by double force scanning.

Published in:

Bioinformatics, 2018, v. 34, n. 2, p. 207, doi. 10.1093/bioinformatics/btx515

By:

Tiberti, Matteo;
Pandini, Alessandro;
Fraternali, Franca;
Fornili, Arianna

Publication type:

Article

A novel mutation of the hGR gene causing Chrousos syndrome.

Published in:

European Journal of Clinical Investigation, 2015, v. 45, n. 8, p. 782, doi. 10.1111/eci.12470

By:

Nicolaides, Nicolas C.;
Geer, Eliza B.;
Vlachakis, Dimitrios;
Roberts, Michael L.;
Psarra, Anna‐Maria G.;
Moutsatsou, Paraskevi;
Sertedaki, Amalia;
Kossida, Sophia;
Charmandari, Evangelia

Publication type:

Article

SUMOylation of Me CP2 is essential for transcriptional repression and hippocampal synapse development.

Published in:

Journal of Neurochemistry, 2014, v. 128, n. 6, p. 798, doi. 10.1111/jnc.12523

By:

Cheng, Ju;
Huang, Min;
Zhu, Ying;
Xin, Yong‐Juan;
Zhao, Yun‐Ke;
Huang, Jian;
Yu, Jian‐Xiu;
Zhou, Wen‐Hao;
Qiu, Zilong

Publication type:

Article

Predictive Values for Molecular Diagnostics: Converting Unknown Unknowns to Known Unknowns.

Published in:

Molecular Diagnosis & Therapy, 2014, v. 18, n. 1, p. 1, doi. 10.1007/s40291-013-0076-x

By:

O'Brien, Cathal;
Langabeer, Stephen;
O'Byrne, Kenneth;
O'Leary, John;
Finn, Stephen

Publication type:

Article

Small Interfering RNA (siRNA)-Mediated Knockdown of Myostatin Influences the Expression of Myogenic Regulatory Factors in Caprine Foetal Myoblasts.

Published in:

Applied Biochemistry & Biotechnology, 2014, v. 172, n. 3, p. 1714, doi. 10.1007/s12010-013-0582-7

By:

Kumar, Rohit;
Singh, Satyendra;
Kumari, Priya;
Mitra, Abhijit

Publication type:

Article

Determination of mutagenic potencies of aqueous extracts of Thermopsis turcica by Ames test.

Published in:

Turkish Journal of Biology, 2012, v. 36, n. 1, p. 85, doi. 10.3906/biy-1011-158

By:

Liman, Recep;
Eren, Yasin;
Akyil, Dilek;
Konuk, Muhsin

Publication type:

Article

Genome-wide patterns and properties of de novo mutations in humans.

Published in:

Nature Genetics, 2015, v. 47, n. 7, p. 822, doi. 10.1038/ng.3292

By:

Francioli, Laurent C;
Menelaou, Androniki;
Renkens, Ivo;
Kloosterman, Wigard P;
Guryev, Victor;
Arndt, Peter F;
de Bakker, Paul I W;
Polak, Paz P;
Chun, Sung;
Sunyaev, Shamil R;
Koren, Amnon;
van Duijn, Cornelia M;
Swertz, Morris;
Wijmenga, Cisca;
van Ommen, Gertjan;
Slagboom, P Eline;
Boomsma, Dorret I;
Ye, Kai

Publication type:

Article

The study of homology between tumor progression genes and members of retroviridae as a tool to predict target-directed therapy failure.

Published in:

Frontiers in Pharmacology, 2015, p. 1, doi. 10.3389/fphar.2015.00092

By:

Fernandes, Janaina;
Jiang Liu;
Shulin Zhuang

Publication type:

Article