|
|
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Thomas Husson
,
François Lecoquierre
,
Kevin Cassinari
,
Camille Charbonnier
,
Olivier Quenez
,
et al.
Journal articles
hal-02538173v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Andrea Legati
,
Donatella Giovannini
,
Gaël Nicolas
,
Uriel López-Sánchez
,
Beatriz Quintáns
,
et al.
Journal articles
hal-02109489v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease
Emmanuelle Boscher
,
Thomas Husson
,
Olivier Quenez
,
Annie Laquerrière
,
Florent Marguet
,
et al.
Journal articles
hal-02539727v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Rituximab treatment in seronegative autoimmune autonomic neuropathy and autoimmune autonomic ganglionopathy: Case-report and literature review
M. Bouxin
,
B. Schvartz
,
S. Mestrallet
,
A. Debrumetz
,
Maxime Hentzien
,
et al.
Journal articles
hal-02883130v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
Juliette Coursimault
,
Anne Rovelet-Lecrux
,
Kévin Cassinari
,
Elise Brischoux-Boucher
,
Pascale Saugier-Veber
,
et al.
Journal articles
hal-03822689v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutation in the 3’untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy
Gaël Nicolas
,
David Wallon
,
Claudia Goupil
,
Anne-Claire Richard
,
Cyril Pottier
,
et al.
Journal articles
hal-01234142v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi
,
Jennifer Kerkhof
,
Victor Pedro
,
Mouna Barat-Houari
,
Nathalie Ruiz-Pallares
,
et al.
Journal articles
hal-02538107v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
T. Smol
,
F. Petit
,
A. Piton
,
B. Keren
,
D. Sanlaville
,
et al.
Journal articles
hal-02393664v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.
Isabelle Le Ber
,
Inge van Bortel
,
Gael Nicolas
,
Kawtar Bouya-Ahmed
,
Agnès Camuzat
,
et al.
Neurobiology of Aging, 2014, 35 (4), pp.934.e5-6
Journal articles
hal-01245808v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Slc20a2 , Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength
Sarah Beck‐cormier
,
Christopher J. Lelliott
,
John Logan
,
David Lafont
,
Laure Merametdjian
,
et al.
Journal articles
hal-02333779v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
K. Le Guennec
,
O. Quenez
,
G. Nicolas
,
D. Wallon
,
S. Rousseau
,
et al.
Journal articles
hal-01832142v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
A. Legati*
,
D. Giovannini*
,
G. Nicolas
,
U. Lopez-Sanchez
,
B. Quintans
,
et al.
Journal articles
hal-02187402v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
Thomas Husson
,
Jean-Baptiste Duboc
,
Olivier Quenez
,
Camille Charbonnier
,
Maud Rothärmel
,
et al.
Journal articles
hal-02540043v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer’s Disease Before 51 Years
Morgane Lacour
,
Olivier Quenez
,
Anne Rovelet-Lecrux
,
Bruno Salomon
,
Stéphane Rousseau
,
et al.
Journal articles
hal-02332506v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing
S. David
,
Jorge Ferreira
,
O. Quenez
,
A. Rovelet-Lecrux
,
A.-C. Richard
,
et al.
Journal articles
hal-01397791v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Gaël Nicolas
,
Cyril Pottier
,
Camille Charbonnier
,
Lucie Guyant-Maréchal
,
Isabelle Le Ber
,
et al.
Journal articles
hal-01133847v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Olivier Quenez
,
Kevin Cassinari
,
Sophie Coutant
,
Francois Lecoquierre
,
Kilan Le Guennec
,
et al.
Journal articles
hal-02883904v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Diagnostic et caractérisation de la démence dans une cohorte de patients schizophrènes d'âge moyen
Gaël Nicolas
Médecine humaine et pathologie. 2012
Master thesis
dumas-00758418v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
Maud Blanluet
,
Sandra Chantot-Bastaraud
,
Pascal Chambon
,
Kévin Cassinari
,
Gabriella Vera
,
et al.
Journal articles
inserm-03856026v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Dementia in middle-aged patients with schizophrenia.
Gaël Nicolas
,
Laurène Beherec
,
Didier Hannequin
,
Gaëlle Opolczynski
,
Maud Rothärmel
,
et al.
Journal of Alzheimer's Disease, 2014, 39 (4), pp.809-22
Journal articles
hal-01141155v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Primary brain calcification: an international study reporting novel variants and associated phenotypes
Eliana Marisa Ramos
,
Miryam Carecchio
,
Roberta Lemos
,
Joana Ferreira
,
Andrea Legati
,
et al.
Journal articles
hal-02540078v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease
Anne Rovelet-Lecrux
,
Sebastien Feuillette
,
Laetitia Miguel
,
Catherine Schramm
,
Ségolène Pernet
,
et al.
Journal articles
hal-03512083v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder
François Lecoquierre
,
Antoine Bonnevalle
,
Alexandra Chadie
,
Claire Gayet
,
Clémentine Dumant-Forest
,
et al.
Journal articles
hal-02356422v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype
Lou Grangeon
,
David Wallon
,
Camille Charbonnier
,
Olivier Quenez
,
Anne-Claire Richard
,
et al.
Journal articles
hal-02538301v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
Gaël Nicolas
,
Rocio Acuna-Hidalgo
,
Michael Keogh
,
Olivier Quenez
,
Marloes Steehouwer
,
et al.
Journal articles
hal-02540061v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Exome sequencing identifies the first genetic determinants of sirenomelia in humans
François Lecoquierre
,
Anne‐claire Brehin
,
Sophie Coutant
,
Juliette Coursimault
,
Anne Bazin
,
et al.
Journal articles
hal-02538246v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|