Publications by authors named "Flora Alarcon"

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A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosis.
Violaine Planté-Bordeneuve, Farida Gorram, Malin Olsson, Intissar Anan, Anna Mazzeo, Flora Alarcon

Amyloid· September 2023

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Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv.
Flora Alarcon, Violaine Planté-Bordeneuve, Grégory Nuel

PLoS One· August 2023

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Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, Flora Alarcon

Genome Med· August 2022

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Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, Flora Alarcon

Genome Med· June 2022

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New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden.
Farida Gorram, Malin Olsson, Flora Alarcon, Gregory Nuel, Intissar Anan

Amyloid· June 2021

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Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.
Nadim Hamzaoui, Flora Alarcon, Nicolas Leulliot, Rosine Guimbaud, Bruno Buecher

Genet Med· September 2020

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Causal mediation analysis in presence of multiple mediators uncausally related.
Allan Jérolon, Laura Baglietto, Etienne Birmelé, Flora Alarcon, Vittorio Perduca

Int J Biostat· September 2020

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Detecting latent exposure in genome-wide association studies using a breakpoint model for logistic regression.
Flora Alarcon, Gregory Nuel

Stat Methods Med Res· June 2019

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Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis.
Flora Alarcon, Violaine Planté-Bordeneuve, Malin Olsson, Grégory Nuel

PLoS One· March 2019

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Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE).
Farida Gorram, Flora Alarcon, Hervé Perdry, Bérénice Hébrard, Thibaud Damy

Amyloid· March 2017

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A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening.
Bernard Bonaïti, Flora Alarcon, Nadine Andrieu, Valérie Bonadona, Marie-Gabrielle Dondon

J Med Genet· February 2014

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[A new scoring system for the diagnosis of BRCA1/2 associated breast-ovarian cancer predisposition].
Bernard Bonaïti, Flora Alarcon, Valérie Bonadona, Sophie Pennec, Nadine Andrieu

Bull Cancer· July 2011

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Parent-of-origin effect in transthyretin related amyloid polyneuropathy.
Bernard Bonaïti, Flora Alarcon, Catherine Bonaïti-Pellié, Violaine Planté-Bordeneuve

Amyloid· September 2010

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Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.
Urban Hellman, Flora Alarcon, Hans-Erik Lundgren, Ole B Suhr, Catherine Bonaiti-Pellié

Amyloid· September 2008

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Estimating cancer risk in HNPCC by the GRL method.
Flora Alarcon, Christine Lasset, Jérôme Carayol, Valérie Bonadona, Hervé Perdry

Eur J Hum Genet· August 2007

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