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Structure: Internal structure identifier : 85453
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Mapping axon initial segment structure and function by multiplexed proximity biotinylation

Hamdan Hamdan , Brian C Lim , Tomohiro Torii , Abhijeet Joshi , Matthias Konning et al.
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-019-13658-5⟩
Journal articles hal-02427822v1

Selective ß-arrestin-dependent signalling by FSHR mutants

Guillaume Durand , Vincent Piketty , Domitille Heitzler , Thibaud Tranchant , Astrid Musnier et al.
International Conference of Gonadotropins & their Receptors, Jul 2008, Cheshunt, United Kingdom. n.p
Conference papers hal-02818628v1

SOCS genes expression during physiological and perturbed implantation in bovine endometrium

Anais Vitorino Carvalho , Pierrette P. Reinaud , N. Forde , G.D. Healey , Caroline Eozenou et al.
Reproduction -Cambridge- Supplement-, 2014, 148 (6), pp.545-557. ⟨10.1530/REP-14-0214⟩
Journal articles hal-02633219v1

Recent development of transcatheter closure of atrial septal defect and patent foramen ovale with occluders

Qin Tang , Qin Su , Qin Sun , Qin Wu , Quansheng Xing et al.
Journal of Biomedical Materials Research Part B: Applied Biomaterials, 2018, 106 (1), pp.433 - 443. ⟨10.1002/jbm.b.33831⟩
Journal articles hal-01674715v1

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Jean Chemin , Karine Siquier-Pernet , Michael Nicouleau , Giulia Barcia , Ali Ahmad et al.
Brain - A Journal of Neurology , 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Journal articles hal-02017665v1
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance Rodan , Rebecca Spillmann , Harley Kurata , Shawn Lamothe , Jasmine Maghera et al.
Genetics in Medicine, 2021, 23 (10), pp.1922-1932. ⟨10.1038/s41436-021-01232-8⟩
Journal articles hal-03519600v1
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PiT1/Slc20a1 is required for endoplasmic reticulum homeostasis, chondrocyte survival and skeletal development

Greig Couasnay , Nina Bon , Sophie Devignes , Sophie Sourice , Arnaud Bianchi et al.
Journal of Bone and Mineral Research, 2018, 34 (2), pp.387-398. ⟨10.1002/jbmr.3609⟩
Journal articles inserm-01902342v1
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Child health, developmental plasticity, and epigenetic programming

Z. Z. Hochberg , Robert Feil , M. M. Constancia , M. M. Fraga , Claudine C. Junien et al.
Endocrine reviews, 2011, 32 (2), pp.159-224. ⟨10.1210/er.2009-0039⟩
Journal articles hal-01001422v1
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Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons

Karen Runge , Rémi Mathieu , Stéphane Bugeon , Sahra Lafi , Corinne Beurrier et al.
Molecular Psychiatry, 2021, ⟨10.1038/s41380-021-01179-x⟩
Journal articles hal-03328734v1

The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water

David Armisen , Rajendhran Rajakumar , Markus Friedrich , Joshua Benoit , Hugh Robertson et al.
BMC Genomics, 2018, 19 (1), ⟨10.1186/s12864-018-5163-2⟩
Journal articles hal-02392026v1

Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons.

Josien Levenga , Ronald Am Buijsen , Maria Rifé , Hervé Moine , David L. Nelson et al.
Neurobiology of Disease, 2009, 35 (2), pp.241-50. ⟨10.1016/j.nbd.2009.05.004⟩
Journal articles inserm-00420367v1

Comprehensive analysis of a norovirus-associated gastroenteritis outbreak, from the environment to the consumer.

Françoise S Le Guyader , Joanna Krol , Katia Ambert-Balay , Nathalie Ruvoen-Clouet , Bénédicte Desaubliaux et al.
Journal of Clinical Microbiology, 2010, 48 (3), pp.915-20. ⟨10.1128/JCM.01664-09⟩
Journal articles hal-00474843v1
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Quantifying the heritability of glioma using genome-wide complex trait analysis

Ben Kinnersley , Jonathan S. Mitchell , Konstantinos Gousias , Johannes Schramm , Ahmed Idbaih et al.
Scientific Reports, 2015, 5, pp.17267. ⟨10.1038/srep17267⟩
Journal articles hal-01271785v1
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Laure Asselin , José Rivera Alvarez , Solveig Heide , Camille Bonnet , Peggy Tilly et al.
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-16294-6⟩
Journal articles hal-03373809v1
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Genome Sequence of the Pea Aphid Acyrthosiphon pisum

Iagc The International Aphid Genomics Consortium , Federica Calevro , Hubert Charles , Stefano Colella , Gérard Febvay et al.
PLoS Biology, 2010, 8 (2), pp.e1000313. ⟨10.1371/journal.pbio.1000313⟩
Journal articles hal-00459970v1
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Glutamine-Expanded Ataxin-7 Alters TFTC/STAGA Recruitment and Chromatin Structure Leading to Photoreceptor Dysfunction

Dominique Helmlinger , Sara Hardy , Gretta Abou-Sleymane , Adrien Eberlin , Aaron Bowman et al.
PLoS Biology, 2006, 4 (3), pp.e67. ⟨10.1371/journal.pbio.0040067⟩
Journal articles hal-02371867v1

Discovery of common and rare genetic risk variants for colorectal cancer

Jeroen Huyghe , Stephanie Bien , Tabitha Harrison , Hyun Min Kang , Sai Chen et al.
Nature Genetics, 2019, 51 (1), pp.76-87. ⟨10.1038/s41588-018-0286-6⟩
Journal articles hal-02153497v1

The Genome of the Sea Urchin Strongylocentrotus purpuratus

E. Sodergren , G. Weinstock , E. Davidson , R. Cameron , R. Gibbs et al.
Science, 2006, 314 (5801), pp.941-952. ⟨10.1126/science.1133609⟩
Journal articles hal-02117436v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability

Bertrand Isidor , Sébastien Küry , Jill A. Rosenfeld , Thomas Besnard , Sébastien Schmitt et al.
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Journal articles hal-01259225v1
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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.
PLoS Biology, 2011, 9 (1), pp.e1000582. ⟨10.1371/journal.pbio.1000582⟩
Journal articles inserm-00707211v1
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Gain-of-Function Mutations in RPA1 Cause a Syndrome with Short Telomeres and Somatic Genetic Rescue

Richa Sharma , Sushree Sahoo , Masayoshi Honda , Sophie Granger , Charnise Goodings et al.
Journal articles hal-03451935v1
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Associations of autozygosity with a broad range of human phenotypes

David J. Clark , Yukinori Okada , Kristjan Moore , Dan Mason , Nicola Pirastu et al.
Nature Communications, 2019, 10 (1), pp.4957. ⟨10.1038/s41467-019-12283-6⟩
Journal articles hal-02651737v1
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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

Anna Swan , Christine Schütt , Jan Rozman , Maria del Mar Muñiz Moreno , Stefan Brandmaier et al.
PLoS Genetics, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩
Journal articles hal-03433523v1
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Practice patterns for chronic hypoparathyroidism: data from patients and physicians in France

Jean-Philippe Bertocchio , Natalie Grosset , Lionel Groussin , Peter Kamenicky , Fabrice Larceneux et al.
Endocrine Connections, 2021, ⟨10.1530/EC-21-0350⟩
Journal articles hal-03510866v1
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A framework for an evidence-based gene list relevant to autism spectrum disorder

Christian Schaaf , Catalina Betancur , Ryan Yuen , Jeremy Parr , David Skuse et al.
Nature Reviews Genetics, 2020, 21 (6), pp.367-376. ⟨10.1038/s41576-020-0231-2⟩
Journal articles inserm-03133319v1

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak , Marie Vincent , Gail Deutsch , Tomasz Gambin , Benjamin Cogne et al.
American Journal of Human Genetics, 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩
Journal articles hal-02461467v1

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Raphael Carapito , Martina Konantz , Catherine Paillard , Zhichao Miao , Angélique Pichot et al.
Journal of Clinical Investigation, 2017, 127 (11), pp.4090-4103. ⟨10.1172/JCI92876⟩
Journal articles hal-02171273v1
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Rifapentine access in Europe: growing concerns over key tuberculosis treatment component

Lorenzo Guglielmetti , Gunar Günther , Claude Leu , Daniela Cirillo , Raquel Duarte et al.
European Respiratory Journal, 2022, 59 (5), pp.2200388. ⟨10.1183/13993003.00388-2022⟩
Journal articles hal-03689715v1
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Insufficient Evidence for “Autism-Specific” Genes

Scott M. Myers , Thomas D. Challman , Raphael Bernier , Thomas Bourgeron , Wendy K. Chung et al.
American Journal of Human Genetics, 2020, 106 (5), pp.587-595. ⟨10.1016/j.ajhg.2020.04.004⟩
Journal articles pasteur-03325406v1

The epigenetic landscape of mammary gland development and functional differentiation

Monique Rijnkels , Elena Kabotyanski , Mohamad B. Montazer-Torbati , Catherine Hue-Beauvais , Yegor Vassetzky et al.
Journal of Mammary Gland Biology and Neoplasia, 2010, 15 (1), pp.85-100. ⟨10.1007/s10911-010-9170-4⟩
Journal articles hal-02664021v1