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Analysis of Repair Mechanisms following an Induced Double-Strand Break Uncovers Recessive Deleterious Alleles in the Candida albicans Diploid Genome
Adeline Feri
,
Raphaël Loll-Krippleber
,
Pierre-Henri Commere
,
Corinne Maufrais
,
Natacha Sertour
et al.
Journal articles
pasteur-01382826v1
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Gene-lifestyle interactions in the genomics of human complex traits
Vincent Laville
,
Timothy Majarian
,
Yun J. Sung
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Karen Schwander
,
Mary F. Feitosa
et al.
Journal articles
pasteur-03712477v1
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On the evolutionary ecology of multidrug resistance in bacteria
Sonja Lehtinen
,
François Blanquart
,
Marc Lipsitch
,
Christophe Fraser
Journal articles
hal-02347472v1
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Evolution of inbreeding coefficients (FIT, FIS and FST) and effective size (Ne) in the population of Saguenay Lac-St-Jean (Quebec)
S. Mourali-Chebil
,
Evelyne Heyer
Human Biology, 2006, 78 (4), pp.495-508
Journal articles
hal-00252002v1
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Role of the DGAT gene C79T single-nucleotide polymorphism in French obese subjects.
Sylvie Kipfer Coudreau
,
Patrick Tounian
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Geneviève Bonhomme
,
Philippe Froguel
,
Jean-Philippe Girardet
et al.
Obesity Research, 2003, 11 (10), pp.1163-7
Journal articles
hal-00174573v1
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The Cohesion complex maintains genome stability by preventing end joining of distant DNA ends in S phase
Ambre Petitalot
,
Elodie Dardillac
,
Eric Jacquet
,
Naima Nhiri
,
Josee Guirouilh-Barbat
et al.
Journal articles
hal-03048279v1
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Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
Antonio Rausell
,
Yufei Luo
,
Marie Lopez
,
Yoann Seeleuthner
,
Franck Rapaport
et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13626-13636. ⟨10.1073/pnas.1917993117⟩
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hal-03020429v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac
,
Julie Thevenon
,
Lesley Ades
,
Bert Callewaert
,
Sophie Julia
et al.
Journal articles
hal-01670135v1
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Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
E Lajeunie
,
V El Ghouzzi
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M. Le Merrer
,
A. Munnich
,
J. Bonaventure
et al.
Journal of Medical Genetics, 1999, 36 (1), pp.9-13
Journal articles
hal-02342819v1
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Autosomal recessive primary microcephaly due to ASPM mutations: An update
Pascaline Létard
,
Séverine Drunat
,
Yoann Vial
,
Sarah Duerinckx
,
Anais Ernault
et al.
Journal articles
hal-02393637v1
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Relapsed diffuse large B-cell lymphoma present different genomic profiles between early and late relapses
Julien Broséus
,
Gaili Chen
,
Sébastien Hergalant
,
Gérard Ramstein
,
Nicolas Mounier
et al.
Journal articles
hal-02314515v1
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Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome
Guntram Borck
,
Anahi Mollà-Herman
,
Nathalie Boddaert
,
Ferechte Encha-Razavi
,
Anne Philippe
et al.
Journal articles
hal-02044435v1
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Transgenic mice overexpressing the 5-hydroxytryptamine transporter gene in smooth muscle develop pulmonary hypertension.
Christophe Guignabert
,
Mohamed Izikki
,
Ly Ieng Tu
,
Zhenlin Li
,
Patricia Zadigue
et al.
Journal articles
inserm-00499636v1
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Analysis of IL28B Variants in an Egyptian Population Defines the 20 Kilobases Minimal Region Involved in Spontaneous Clearance of Hepatitis C Virus
Vincent Pedergnana
,
Mohamed Abdel-Hamid
,
Julien Guergnon
,
Amira Mohsen
,
Lénaïg Le Fouler
et al.
Journal articles
hal-03684772v1
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DNA electroporation in rabbits as a method for generation of high-titer neutralizing antisera
Aurore Burgain
,
Alice Rochard
,
Capucine Trollet
,
Christelle Mazuet
,
Michel Popoff
et al.
Journal articles
pasteur-01766305v1
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Ranked Tree Shapes, Nonrandom Extinctions, and the Loss of Phylogenetic Diversity
Odile Maliet
,
Fanny Gascuel
,
Amaury Lambert
Journal articles
hal-03914371v1
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An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain
Yann Fichou
,
Juliette Nectoux
,
Nadia Bahi-Buisson
,
Jamel Chelly
,
Thierry Bienvenu
et al.
Journal articles
hal-04028132v1
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The cytosolic/nuclear HSC70 and HSP90 molecular chaperones are important for stomatal closure and modulate abscisic acid-dependent physiological responses in Arabidopsis
Mathilde Clément
,
Nathalie Leonhardt
,
Marie-Jo Droillard
,
Ilja Reiter
,
Jean-Luc Montillet
et al.
Journal articles
hal-02646258v1
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Crosstalk between Acidosis and Iron Metabolism: Data from In Vivo Studies
Raêd Daher
,
Nicolas Ducrot
,
Thibaud Lefebvre
,
Sofia Zineeddine
,
Jérome Ausseil
et al.
Journal articles
inserm-03874980v1
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New insights into human immunity from ancient genomics
Gaspard Kerner
,
Etienne Patin
,
Lluis Quintana-Murci
Journal articles
hal-03372683v1
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The genomic signatures of natural selection in admixed human populations
Sebastian Cuadros-Espinoza
,
Guillaume Laval
,
Lluis Quintana-Murci
,
Etienne Patin
Journal articles
hal-03695997v1
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The genetic and evolutionary determinants of COVID-19 susceptibility
Gaspard Kerner
,
Lluis Quintana-Murci
Journal articles
pasteur-04005972v1
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Protéines Nef du VIH et K3/K5 du virus associé au sarcoma de Kaposi : des « parasites »de la voie d’endocytose
Serge Bénichou
,
Alexandre Benmerah
Journal articles
hal-03844197v1
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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
Kosuke Izumi
,
Maggie Brett
,
Eriko Nishi
,
Séverine Drunat
,
Ee-Shien Tan
et al.
Journal articles
hal-02859852v1
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BAC array CGH distinguishes mutually exclusive alterations that define clinicogenetic subtypes of gliomas.
Ahmed Idbaih
,
Yannick Marie
,
Carlo Lucchesi
,
Gaëlle Pierron
,
Elodie Manié
et al.
Journal articles
inserm-00310507v1
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Clinical variability in patients with Apert's syndrome
Elisabeth Lajeunie
,
Rhoda Cameron
,
Vincent El Ghouzzi
,
Nathalie de Parseval
,
Pierre Journeau
et al.
Journal articles
hal-02342818v1
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First heterozygous NOP10 mutation in familial pulmonary fibrosis
Caroline Kannengiesser
,
Effrosyni Manali
,
Patrick Revy
,
Isabelle Callebaut
,
Ibrahima Ba
et al.
Journal articles
hal-02997098v1
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Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase
Aya Awad
,
Galina Glousker
,
Noa Lamm
,
Shadi Tawil
,
Noa Hourvitz
et al.
Journal articles
hal-02997232v1
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The role of neurotrophin genes involved in the vulnerability to gambling disorder
Neus Solé-Morata
,
Isabel Baenas
,
Mikel Etxandi
,
Roser Granero
,
Sonia Forcales
et al.
Journal articles
inserm-03658543v1
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Marc Engelen
,
Stephan Kemp
,
Marianne de Visser
,
Björn van Geel
,
Ronald Wanders
et al.
Journal articles
inserm-00755770v1
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