|
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A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Graciana Diez-Roux
,
Sandro Banfi
,
Marc Sultan
,
Lars Geffers
,
Santosh Anand
,
et al.
Journal articles
inserm-00707211v1
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Lack of replication of the GRIN2A-by-coffee interaction in Parkinson disease.
Ismaïl Ahmed
,
Pei-Chen Lee
,
Christina M Lill
,
Susan Searles Nielsen
,
Fanny Artaud
,
et al.
Journal articles
inserm-01160040v1
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Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
Christel Depienne
,
Marianna Bugiani
,
Céline Dupuits
,
Damien Galanaud
,
Valérie Touitou
,
et al.
Journal articles
inserm-00842764v1
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The globin gene family of the cephalochordate amphioxus: implications for chordate globin evolution.
Bettina Ebner
,
Georgia Panopoulou
,
Serge Vinogradov
,
Laurent Kiger
,
Michael Marden
,
et al.
Journal articles
inserm-00622807v1
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A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3′ end processing is associated with intellectual disability in humans
Petar N Grozdanov
,
Elahe Masoumzadeh
,
Vera M Kalscheuer
,
Thierry Bienvenu
,
Pierre Billuart
,
et al.
Journal articles
hal-02969371v1
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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
Hao Hu
,
Klaus Wrogemann
,
Vera Kalscheuer
,
Andreas Tzschach
,
Hugues Richard
,
et al.
Journal articles
hal-04121616v1
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
Lionel van Maldergem
,
Qingming Hou
,
Vera Kalscheuer
,
Marlène Rio
,
Martine Doco-Fenzy
,
et al.
Journal articles
hal-02124657v1
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Norine Voisin
,
Rhonda E Schnur
,
Sofia Douzgou
,
Susan M Hiatt
,
Cecilie F Rustad
,
et al.
Journal articles
inserm-03948529v1
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Synthetic STARR-seq reveals how DNA shape and sequence modulate transcriptional output and noise
Stefanie Schöne
,
Melissa Bothe
,
Edda Einfeldt
,
Marina Borschiwer
,
Philipp Benner
,
et al.
Journal articles
inserm-02155974v1
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ChIP-exo signal associated with DNA-binding motifs provides insight into the genomic binding of the glucocorticoid receptor and cooperating transcription factors
Stephan R Starick
,
Jonas Ibn-Salem
,
Marcel Jurk
,
Céline Hernandez
,
Michael I Love
,
et al.
Journal articles
hal-03352059v1
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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Suzanna Frints
,
Aysegul Ozanturk
,
Germán Rodriguez Criado
,
Ute Grasshoff
,
Bas de Hoon
,
et al.
Journal articles
hal-03677837v1
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Going digital: how technology use may influence human brains and behavior
Florence Thibaut
,
Margret Hoehe
Journal articles
inserm-02969417v1
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Nonsyndromic X-linked mental retardation: where are the missing mutations?
Hans-Hilger Ropers
,
Maria Hoeltzenbein
,
Vera Kalscheuer
,
Helger Yntema
,
Ben Hamel
,
et al.
Journal articles
istex
hal-04152593v1
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MECP2 is highly mutated in X-linked mental retardation
Philippe Couvert
,
Thierry Bienvenu
,
Cecile Aquaviva
,
Karine Poirier
,
Claude Moraine
,
et al.
Journal articles
hal-04142877v1
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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH
D Lugtenberg
,
A De Brouwer
,
T Kleefstra
,
A Oudakker
,
S Frints
,
et al.
Journal articles
hal-04093731v1
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Identification and characterization of DNA sequences that prevent glucocorticoid receptor binding to nearby response elements
Jonas Telorac
,
Sergey V Prykhozhij
,
Stefanie Schöne
,
David Meierhofer
,
Sascha Sauer
,
et al.
Journal articles
hal-03352070v1
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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
Cecile Pagan
,
Hany Goubran Botros
,
Karine Poirier
,
Anne Dumaine
,
Stéphane Jamain
,
et al.
Journal articles
inserm-00610655v1
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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
Sarah A. Shoichet
,
Kirsten Hoffmann
,
Corinna Menzel
,
Udo Trautmann
,
Bettina Moser
,
et al.
American Journal of Human Genetics, 2003, 73 (6), pp.1341-1354. ⟨10.1086/380309⟩
Journal articles
hal-04153033v1
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Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency
Frédéric Laumonnier
,
Nathalie Ronce
,
Ben C.J. Hamel
,
Paul Thomas
,
James Lespinasse
,
et al.
American Journal of Human Genetics, 2002, 71 (6), pp.1450-1455. ⟨10.1086/344661⟩
Journal articles
hal-04152275v1
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Preventing dangerous nonsense: selection for robustness to transcriptional error in human genes.
Brian P. Cusack
,
Peter F. Arndt
,
L. Duret
,
Hugues Roest Crollius
Journal articles
inserm-00711772v1
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A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model
Mickael Orgeur
,
Marvin Martens
,
Stefan Börno
,
Bernd Timmermann
,
Delphine Duprez
,
et al.
Journal articles
hal-02393868v1
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A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.
Lars Jensen
,
Heinz Bartenschlager
,
Sinitdhorn Rujirabanjerd
,
Andreas Tzschach
,
Astrid Nümann
,
et al.
Journal articles
inserm-00585757v1
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Toll-like receptor dependent autoantigens in animal models and humans in use to improve collagen induced arthritis
B Marklein
,
Z Konthur
,
T Häupl
,
M Shlomchik
,
G Steiner
,
et al.
Journal of Translational Medicine, 2010, 8 (Suppl 1), pp.P53
Journal articles
inserm-00622783v1
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Genome-wide strategies identify downstream target genes of chick connective tissue-associated transcription factors
Mickael Orgeur
,
Marvin Martens
,
Georgeta Leonte
,
Sonya Nassari
,
Marie-Ange Bonnin
,
et al.
Journal articles
hal-02393907v1
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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
T. Kleefstra
,
H. G. Yntema
,
A. R. Oudakker
,
M. J. G. Banning
,
V. M. Kalscheuer
,
et al.
Journal articles
hal-04142521v1
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A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model
Mickael Orgeur
,
Marvin Martens
,
Stefan T Börno
,
Bernd Timmermann
,
Delphine Duprez
,
et al.
Journal articles
hal-01715183v1
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H3K64 trimethylation marks heterochromatin and is dynamically remodeled during developmental reprogramming.
Sylvain Daujat
,
Thomas Weiss
,
Fabio Mohn
,
Ulrike C Lange
,
Céline Ziegler-Birling
,
et al.
Journal articles
istex
inserm-00420391v1
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RSAT peak-motifs: motif analysis in full-size ChIP-seq datasets
Morgane Thomas-Chollier
,
Carl Herrmann
,
Matthieu Defrance
,
Olivier Sand
,
Denis Thieffry
,
et al.
Journal articles
hal-01624284v1
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FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis
Juliette Piard
,
Jia-Hua Hu
,
Philippe Campeau
,
Sylwia Rzonca
,
Hilde van Esch
,
et al.
Journal articles
hal-03670940v1
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Role of the chromatin landscape and sequence in determining cell type-specific genomic glucocorticoid receptor binding and gene regulation
Michael I Love
,
Matthew R Huska
,
Marcel Jurk
,
Robert Schöpflin
,
Stephan R Starick
,
et al.
Journal articles
hal-03352072v1
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