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	Pour les 36 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Benjamin D. Solomon , Kelly A. Bear , Adrian Wyllie , Amelia A. Keaton , Christele Dubourg , et al. Journal of Medical Genetics, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩ Article dans une revue inserm-00718148v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		RNF170-related hereditary spastic paraplegia: confirmation by a novel mutation Jean‐madeleine de Sainte Agathe , Sandra Mercier , Jean‐yves Mahé , Yann Péréon , Julien Buratti , et al. Movement Disorders, In press, ⟨10.1002/mds.28371⟩ Article dans une revue hal-03059847v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity Iain M. Dykes , Dorota Szumska , Linta Kuncheria , Rathi Puliyadi , Chiann-Mun Chen , et al. Scientific Reports, 2018, 8 (1), pp.10439. ⟨10.1038/s41598-018-28714-1⟩ Article dans une revue hal-01863217v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NOTCH, a new signaling pathway implicated in holoprosencephaly. Valérie Dupé , Lucie Rochard , Sandra Mercier , Yann Le Pétillon , Isabelle Gicquel , et al. Human Molecular Genetics, 2011, 20 (6), pp.1122-31. ⟨10.1093/hmg/ddq556⟩ Article dans une revue inserm-00554387v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives Silvestre Cuinat , Stéphane Bézieau , Wallid Deb , Sandra Mercier , Virginie Vignard , et al. Genes & Diseases, 2023, pp.101130. ⟨10.1016/j.gendis.2023.101130⟩ Article dans une revue hal-04264182v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients Aurore Curie , Amandine Brun , Anne Cheylus , Anne Reboul , Tatjana Nazir , et al. PLoS ONE, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩ Article dans une revue hal-01281629v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Lucilla Pizzo , Matthew Jensen , Andrew Polyak , Jill Rosenfeld , Katrin Männik , et al. Genetics in Medicine, In press, ⟨10.1038/s41436-018-0266-3⟩ Article dans une revue hal-02059381v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. Benjamin D. Solomon , Felicitas Lacbawan , Sandra Mercier , Nancy J. Clegg , Mauricio R. Delgado , et al. Journal of Medical Genetics, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩ Article dans une revue inserm-00439659v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Holoprosencephaly flashcards: A summary for the clinician. Benjamin D Solomon , Daniel E Pineda-Alvarez , Sandra Mercier , Manu S Raam , Sylvie Odent , et al. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.3-7. ⟨10.1002/ajmg.c.30245⟩ Article dans une revue istex inserm-00462060v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs Magalie Lodin , Julie Galimand , Florence Dastot - Le Moal , Bruno Copin , Sandra Mercier , et al. European Society of Human Genetics, Jun 2022, Vienne, Austria Poster de conférence inserm-03922101v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Analysis of genotype-phenotype correlations in human holoprosencephaly. Benjamin D. Solomon , Sandra Mercier , Jorge I. Vélez , Daniel Pineda-Alvarez , Adrian Wyllie , et al. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.133-41. ⟨10.1002/ajmg.c.30240⟩ Article dans une revue inserm-00461997v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		New insights into genotype-phenotype correlation for GLI3 mutations Florence Démurger , Amale Ichkou , Soumaya Mougou-Zerelli , Martine Le Merrer , Géraldine Goudefroye , et al. European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩ Article dans une revue hal-01064583v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Sandra Mercier , Sébastien Küry , Sébastien Barbarot , Margaret P , David B Everman , et al. GeneReviews, pp.1-17, 2016 Chapitre d'ouvrage hal-03831152v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios , et al. Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩ Article dans une revue hal-02237297v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey Mathilde Lefebvre , Damien Sanlaville , Nathalie Marle , Christel Thauvin-Robinet , Élodie Gautier , et al. Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩ Article dans une revue hal-01237103v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study Sandra Martin , Borja Rodríguez-Herreros , Jared Nielsen , Clara Moreau , Claudia Modenato , et al. Biological Psychiatry, 2018, 84 (4), pp.253 - 264. ⟨10.1016/j.biopsych.2018.02.1176⟩ Article dans une revue hal-01870357v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical utility gene card for: Holoprosencephaly. Christèle Dubourg , Véronique David , Andrea Gropman , Sandra Mercier , Maximilian Muenke , et al. European Journal of Human Genetics, 2011, 19 (1), preceeding 118-20. ⟨10.1038/ejhg.2010.110⟩ Article dans une revue inserm-00511701v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos. Sandra Mercier , Véronique David , Leslie Ratié , Isabelle Gicquel , Sylvie Odent , et al. Disease Models & Mechanisms, 2013, 6 (2), pp.537-43. ⟨10.1242/dmm.010132⟩ Article dans une revue inserm-00824979v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome Marine Legendre , Véronique Abadie , Tania Attié-Bitach , Nicole Philip , Tiffany Busa , et al. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩ Article dans une revue hal-01691932v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Marie Vincent , David Geneviève , Agnès Ostertag , Sandrine Marlin , Didier Lacombe , et al. Genetics in Medicine, 2016, 18 (1), pp.49-56. ⟨10.1038/gim.2015.29⟩ Article dans une revue hal-01134364v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (poiktmp): a case series of 28 patients E. Chasseuil , J. Mcgrath , A. Seo , X. Balguerie , N. Bodak , et al. British Journal of Dermatology, 2019, ⟨10.1111/bjd.17996⟩ Article dans une revue hal-02098832v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia Loic de Pontual , Marie Cognet , Agnès Nougayrede , Valérie Malan , Patrick Callier , et al. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.225⟩ Article dans une revue hal-00608020v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects Annie Laquérriere , Jérome Maluenda , Adrien Camus , Laura Fontenas , Klaus Dieterich , et al. Human Molecular Genetics, 2014, 23 (9), pp.2279--2289. ⟨10.1093/hmg/ddt618⟩ Article dans une revue hal-01064295v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1 Antoine Mangin , Laure de Pontual , Yu-Chih Tsai , Laetitia Monteil , Mathilde Nizon , et al. International Journal of Molecular Sciences, 2021, 22 (5), pp.2616. ⟨10.3390/ijms22052616⟩ Article dans une revue hal-03173835v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation Akiko Seki , Taisuke Ishikawa , Xavier Daumy , Hiroyuki Mishima , Julien Barc , et al. Journal of the American College of Cardiology, 2017, Equipe I, 70 (3), pp.358--370. ⟨10.1016/j.jacc.2017.05.039⟩ Article dans une revue hal-01832148v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Davor Lessel , Claudia Schob , Sébastien Kury , Margot Reijnders , Tamar Harel , et al. American Journal of Human Genetics, 2018, 102, pp.196 Article dans une revue hal-02083022v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		LIS1-Related Isolated Lissencephaly Yoann Saillour , Nathalie Carion , Chloe Quelin , Pierre-Louis Leger , Nathalie Boddaert , et al. Archives of Neurology -Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩ Article dans une revue hal-01104698v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Klaus Dieterich , Susana Quijano-Roy , Nicole Monnier , Jie Zhou , Julien Fauré , et al. Human Molecular Genetics, 2013, 22 (8), pp.1483-92. ⟨10.1093/hmg/dds514⟩ Article dans une revue inserm-00904747v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder Sébastien Küry , Thomas Besnard , Frédéric Ebstein , Tahir N. Khan , Tomasz Gambin , et al. American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩ Article dans une revue hal-01478814v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability Sébastien Küry , Geeske M van Woerden , Thomas Besnard , Martina Proietti Onori , Xénia Latypova , et al. American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩ Article dans une revue inserm-01813739v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

RNF170-related hereditary spastic paraplegia: confirmation by a novel mutation

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

NOTCH, a new signaling pathway implicated in holoprosencephaly.

Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Holoprosencephaly flashcards: A summary for the clinician.

uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs

Analysis of genotype-phenotype correlations in human holoprosencephaly.

New insights into genotype-phenotype correlation for GLI3 mutations

Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Clinical utility gene card for: Holoprosencephaly.

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (poiktmp): a case series of 28 patients

Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

LIS1-Related Isolated Lissencephaly

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability