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Statistical inference of immunogenetic parameters reveals HLA-DRB1*11:01 allele associated with pediatric FSGS
Axelle Durand
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Cheryl A. Winkler
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Nicolas Vince
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Venceslas Douillard
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Estelle Geffard
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et al.
JOBIM, Jul 2019, Nantes, France
Conference poster
inserm-02161731v1
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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy
Borislav Dejanovic
,
Tania Djemie
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N. Grünewald
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Arvid Suls
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Vanessa Kress
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et al.
Journal articles
hal-01236147v2
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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.
Dalila Pinto
,
Elsa Delaby
,
Daniele Merico
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Mafalda Barbosa
,
Alison Merikangas
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et al.
Journal articles
inserm-00986225v1
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Epithelial Bmpr1a regulates differentiation and proliferation in postnatal hair follicles and is essential for tooth development
Thomas Andl
,
Kyung Ahn
,
Alladin Kairo
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Emily Y. Chu
,
Lara Wine-Lee
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et al.
Journal articles
hal-04127581v1
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Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia
Jingping Ge
,
Marisa Apicella
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Jason A. Mills
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Loïc Garçon
,
Deborah L. French
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et al.
Journal articles
hal-01233565v1
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French validation of the sleep disturbance scale for children (SDSC) in young children (aged 6 months to 4 years)
Florian Lecuelle
,
Marie-Paule Gustin
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Wendy Leslie
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Jodi A. Mindell
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Patricia Franco
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et al.
Journal articles
hal-03489967v1
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Identification of Novel Genetic Risk Factors for Focal Segmental Glomerulosclerosis in Children: Results From the Chronic Kidney Disease in Children (CKiD) Cohort
Axelle Durand
,
Cheryl Winkler
,
Nicolas Vince
,
Venceslas Douillard
,
Estelle Geffard
,
et al.
Journal articles
inserm-04061037v1
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Antibiotics and Cure Rates in Childhood Febrile Urinary Tract Infections in Clinical Trials: A Systematic Review and Meta-analysis
Konstantinos Vazouras
,
Romain Basmaci
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Julia Bielicki
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Laura Folgori
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Theoklis Zaoutis
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et al.
Journal articles
inserm-02129846v1
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
Ina Schanze
,
Jens Bunt
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Jonathan W.C. Lim
,
Denny Schanze
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Ryan Dean
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et al.
Journal articles
hal-01999378v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Sébastien Küry
,
Geeske M van Woerden
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Thomas Besnard
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Martina Proietti Onori
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Xénia Latypova
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et al.
Journal articles
inserm-01813739v1
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Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
David Buchbinder
,
Fabian Hauck
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Michael Albert
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Anita Rack
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Shahrzad Bakhtiar
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et al.
Journal articles
pasteur-03469013v1
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Preclinical Potency and Biodistribution Studies of an AAV 5 Vector Expressing Human Interferon-β (ART-I02) for Local Treatment of Patients with Rheumatoid Arthritis
Caroline J. Aalbers
,
Lisette Bevaart
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Scott Loiler
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Karin de Cortie
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J. Fraser Wright
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et al.
Journal articles
hal-01230828v1
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Individual common variants exert weak effects on the risk for autism spectrum disorders.
Richard Anney
,
Lambertus Klei
,
Dalila Pinto
,
Joana Almeida
,
Elena Bacchelli
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et al.
Journal articles
inserm-00723650v1
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International Network of Chronic Kidney Disease cohort studies (iNET-CKD): a global network of chronic kidney disease cohorts
Thomas Dienemann
,
Naohiko Fujii
,
Paula Orlandi
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Lisa Nessel
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Susan L. Furth
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et al.
Journal articles
inserm-01359631v1
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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
Siddharth Srivastava
,
Erica Macke
,
Lindsay Swanson
,
David Coulter
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Eric Klee
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et al.
Journal articles
hal-03664847v1
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A collaborative resource platform for non-human primate neuroimaging
Adam Messinger
,
Nikoloz Sirmpilatze
,
Katja Heuer
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Kep Kee Loh
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Rogier B Mars
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et al.
Journal articles
hal-03167240v1
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A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Jean-Louis Guéant
,
Céline Chery
,
Abderrahim Oussalah
,
Javad Nadaf
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David Coelho
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et al.
Journal articles
hal-01801484v1
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Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
Abderrahim Oussalah
,
Youssef Siblini
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Sébastien Hergalant
,
Céline Chéry
,
Pierre Rouyer
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et al.
Journal articles
hal-03664165v1
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Isabelle Cleynen
,
Worrawat Engchuan
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Matthew Hestand
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Tracy Heung
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Aaron Holleman
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et al.
Journal articles
hal-03216078v1
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Levels of autistic traits in anorexia nervosa: a comparative psychometric study.
Annaig Courty
,
Anne Solène Maria
,
Christophe Lalanne
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Damien Ringuenet
,
Christine Vindreau
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et al.
Journal articles
inserm-00868766v1
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A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
L Alison Mcinnes
,
Alisa Nakamine
,
Marion Pilorge
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Tracy Brandt
,
Patricia Jiménez González
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et al.
Journal articles
inserm-00622567v1
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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
Eric Chater-Diehl
,
Resham Ejaz
,
Cheryl Cytrynbaum
,
Michelle Siu
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Andrei Turinsky
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et al.
Journal articles
hal-02612494v1
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Immune status of the murine 22q11.2 deletion syndrome model
Alexis Crockett
,
Hania Kebir
,
Nail Benallegue
,
Philippa Adelman
,
Raquel Gur
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et al.
Journal articles
inserm-04003516v1
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Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
Ulrike Esslinger
,
Sophie Garnier
,
Agathe Korniat
,
Carole Proust
,
Georgios Kararigas
,
et al.
Journal articles
hal-02949402v1
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Hong S. Lee
,
Stephan Ripke
,
Benjamin M. Neale
,
Stephen V. Faraone
,
Shaun M. Purcell
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et al.
Journal articles
inserm-00864642v1
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné
,
Sophie Ehresmann
,
Eliane Beauregard-Lacroix
,
Justine Rousseau
,
Thomas Besnard
,
et al.
Journal articles
hal-02181523v1
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Delineation of early brain development from fetuses to infants with diffusion MRI and beyond
Minhui Ouyang
,
Jessica Dubois
,
Qinlin Yu
,
Pratik Mukherjee
,
Hao Huang
Journal articles
hal-02436254v1
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Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP
Sanjay Sonney
,
Jeremy Leipzig
,
Marie T Lott
,
Shiping Zhang
,
Vincent Procaccio
,
et al.
Journal articles
inserm-02149524v1
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Study design of a randomised, placebo-controlled trial of nintedanib in children and adolescents with fibrosing interstitial lung disease
Robin Deterding
,
Matthias Griese
,
Gail Deutsch
,
David Warburton
,
Emily M Deboer
,
et al.
Journal articles
inserm-04038073v1
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Sexually dimorphic roles for the type 2 diabetes-associated C2cd4b gene in murine glucose homeostasis
S. Neda Mousavy Gharavy
,
Bryn M. Owen
,
Steven J. Millership
,
Pauline Chabosseau
,
Grazia Pizza
,
et al.
Journal articles
hal-03677223v1
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