Publications by authors named "Doris Lechner"

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D
DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Maria Lytrivi, Valérie Senée, Paraskevi Salpea, Federica Fantuzzi, Anne Philippi, Doris Lechner

Eur J Endocrinol· March 2021

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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Martin Chevarin, Yannis Duffourd, Rebecca A Barnard, Sébastien Moutton, François Lecoquierre, Doris Lechner

J Med Genet· July 2020

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Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Camille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, Paule Benit, Elodie Sanchez, Doris Lechner

Eur J Hum Genet· November 2019

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Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
Ivana Dabaj, Robert Y Carlier, David Gómez-Andrés, Osório Abath Neto, Enrico Bertini, Doris Lechner

Muscle Nerve· August 2018

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Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Osorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, Sandra Donkervoort, Johann Böhm, Doris Lechner

Neuromuscul Disord· November 2017

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Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation.
Osorio Abath Neto, Carlos Otto Heise, Cristiane de Araújo Martins Moreno, Eduardo de Paula Estephan, Lilia Mesrob, Doris Lechner

Can J Neurol Sci· January 2017

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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Doris Lechner

Am J Hum Genet· September 2016

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Variation in genomic landscape of clear cell renal cell carcinoma across Europe.
Ghislaine Scelo, Yasser Riazalhosseini, Liliana Greger, Louis Letourneau, Mar Gonzàlez-Porta, Doris Lechner

Nat Commun· October 2014

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Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
Joris Deelen, Marian Beekman, Hae-Won Uh, Linda Broer, Kristin L Ayers, Doris Lechner

Hum Mol Genet· August 2014

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Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Christelle Tesson, Magdalena Nawara, Mustafa A M Salih, Rodrigue Rossignol, Maha S Zaki, Doris Lechner

Am J Hum Genet· December 2012

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A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
Xifeng Wu, Ghislaine Scelo, Mark P Purdue, Nathaniel Rothman, Mattias Johansson, Doris Lechner

Hum Mol Genet· January 2012

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Chromosome 7p11.2 (EGFR) variation influences glioma risk.
Marc Sanson, Fay J Hosking, Sanjay Shete, Diana Zelenika, Sara E Dobbins, Doris Lechner

Hum Mol Genet· July 2011

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A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
James D McKay, Therese Truong, Valerie Gaborieau, Amelie Chabrier, Shu-Chun Chuang, Doris Lechner

PLoS Genet· March 2011

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Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.
Mark P Purdue, Mattias Johansson, Diana Zelenika, Jorge R Toro, Ghislaine Scelo, Doris Lechner

Nat Genet· January 2011

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Lung cancer susceptibility locus at 5p15.33.
James D McKay, Rayjean J Hung, Valerie Gaborieau, Paolo Boffetta, Amelie Chabrier, Doris Lechner

Nat Genet· December 2008

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Plant phenolic compounds as ethidium bromide efflux inhibitors in Mycobacterium smegmatis.
Doris Lechner, Simon Gibbons, Franz Bucar

J Antimicrob Chemother· August 2008

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SNP and haplotype mapping for genetic analysis in the rat.

Nat Genet· May 2008

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A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
Rayjean J Hung, James D McKay, Valerie Gaborieau, Paolo Boffetta, Mia Hashibe, Doris Lechner

Nature· April 2008

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Fine mapping of quantitative trait loci affecting female fertility in dairy cattle on BTA03 using a dense single-nucleotide polymorphism map.
Tom Druet, Sébastien Fritz, Mekki Boussaha, Slim Ben-Jemaa, François Guillaume, Doris Lechner

Genetics· April 2008

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High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype tagging.
Richard J N Allcock, Lydia Windsor, Ivo G Gut, Ramon Kucharzak, Laetitia Sobre, Doris Lechner

Hum Mutat· December 2004

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The antimycobacterial components of hops (Humulus lupulus) and their dereplication.
Michael Stavri, Ruth Schneider, Gemma O'Donnell, Doris Lechner, Franz Bucar

Phytother Res· September 2004

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The anti-staphylococcal activity of Angelica dahurica (Bai Zhi).
Doris Lechner, Michael Stavri, Moyosoluwa Oluwatuyi, Rogelio Pereda-Miranda, Simon Gibbons

Phytochemistry· February 2004

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Molecular haplotyping at high throughput.
Jörg Tost, Ole Brandt, Francis Boussicault, David Derbala, Christophe Caloustian, Doris Lechner

Nucleic Acids Res· October 2002

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Large-scale genotyping by mass spectrometry: experience, advances and obstacles.
Doris Lechner, G Mark Lathrop, Ivo G Gut

Curr Opin Chem Biol· February 2002

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