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	Pour les 32 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

		Coupling ex vivo electroporation of mouse retinas and luciferase reporter assays to assess rod-specific promoter activity Arnaud Boulling , Pascal Escher Experimental Eye Research, 2016, 148, pp.79-82. ⟨10.1016/j.exer.2016.06.002⟩ Article dans une revue hal-02946932v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Toward a clinical diagnostic pipeline for SPINK1 intronic variants Xin-Ying Tang , Jin-Huan Lin , Wen-Bin Zou , Emmanuelle Masson , Arnaud Boulling , et al. Human Genomics, 2019, 13 (1), pp.785-786. ⟨10.1186/s40246-019-0193-7⟩ Article dans une revue inserm-02862487v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis Arnaud Boulling , Amandine Abrantes , Emmanuelle Masson , David Cooper , Michel Robaszkiewicz , et al. Human Mutation, 2016, 37 (11), pp.1149-1152. ⟨10.1002/humu.23053⟩ Article dans une revue hal-02946953v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle Mekki Boussaha , Arnaud Boulling , Valérie Wolgust , Lorraine Bourgeois-Brunel , Pauline Michot , et al. Genetics Selection Evolution, 2023, 55 (1), pp.40. ⟨10.1186/s12711-023-00814-1⟩ Article dans une revue hal-04125597v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay Nicolas Gaiani , Lorraine Bourgeois-Brunel , Dominique Rocha , Arnaud Boulling Scientific Reports, 2023, 13 (1), pp.8999. ⟨10.1038/s41598-023-36142-z⟩ Article dans une revue hal-04132465v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Functional Analysis of Eight Missense Mutations in the SPINK1 Gene Arnaud Boulling , Steven Keiles , Emmanuelle Masson , Jian-Min Chen , Claude Férec Pancreas, 2012, 41 (2), pp.329-330. ⟨10.1097/MPA.0b013e3182277b83⟩ Article dans une revue hal-02946693v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetic analysis of the STIM1 gene in chronic pancreatitis Emmanuelle Masson , Wen-Bin Zou , Claudia Ruffert , Vanessa Holste , Patrick Michl , et al. 2022 Pré-publication, Document de travail hal-03811468v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genes and variants involved in resistance to paratuberculosis in Holstein and Normande cattle Valentin Sorin , Arnaud Boulling , Arnaud Delafosse , Mekki Boussaha , Chris Hozé , et al. 74th Annual Meeting of the European Federation of Animal Science, European Federation of Animal Science, Aug 2023, Lyon, France. pp.409, ⟨10.3920/978-90-8686-936-7⟩ Communication dans un congrès hal-04195867v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis Jin-Huan Lin , Arnaud Boulling , Emmanuelle Masson , David Cooper , Zhao-Shen Li , et al. Gut, 2020, 69 (4), pp.785-786. ⟨10.1136/gutjnl-2019-318564⟩ Article dans une revue hal-02947002v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing Hao Wu , Arnaud Boulling , David Cooper , Zhao-Shen Li , Zhuan Liao , et al. Gut, 2017, 66 (12), pp.2195-2196. ⟨10.1136/gutjnl-2017-313948⟩ Article dans une revue hal-02946961v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Toward a clinical diagnostic pipeline for SPINK1 intronic variants Xin-Ying Tang , Jin-Huan Lin , Wen-Bin Zou , Emmanuelle Masson , Arnaud Boulling , et al. Human Genomics, 2019, 13 (1), pp.8. ⟨10.1186/s40246-019-0193-7⟩ Article dans une revue hal-03546059v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification and characterisation of mitochondrial sequences integrated into the ovine nuclear genome M. Féménia , M. Charles , A. Boulling , D. Rocha Animal Genetics, 2021, 52 (4), pp.556-559. ⟨10.1111/age.13096⟩ Article dans une revue hal-03357099v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay Hao Wu , Arnaud Boulling , David Cooper , Zhao-Shen Li , Zhuan Liao , et al. Genes, 2017, 8 (10), pp.263. ⟨10.3390/genes8100263⟩ Article dans une revue hal-02946994v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of HMX1 target genes: a predictive promoter model approach Arnaud Boulling , Linda Wicht , Daniel F Schorderet Molecular Vision, 2013, 19, pp.1779-94 Article dans une revue hal-02946707v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639 Arnaud Boulling , Masahiro Sato , Emmanuelle Masson , Emmanuelle Génin , Jian-Min Chen , et al. Gut, 2015, 64 (11), pp.1837-1838. ⟨10.1136/gutjnl-2015-310254⟩ Article dans une revue hal-02946722v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion Arnaud Boulling , Gérald Le Gac , Gwendal Dujardin , Jian-Min Chen , Claude Férec Molecular Genetics and Metabolism, 2010, 99 (3), pp.319-324. ⟨10.1016/j.ymgme.2009.10.176⟩ Article dans une revue istex hal-02946611v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts Jin‐huan Lin , Xin‐ying Tang , Arnaud Boulling , Wen‐bin Zou , Emmanuelle Masson , et al. Human Mutation, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩ Article dans une revue hal-03545882v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis Orsolya Király , Arnaud Boulling , Heiko Witt , Cédric Le Maréchal , Jian-Min Chen , et al. Human Mutation, 2007, 28 (5), pp.469-476. ⟨10.1002/humu.20471⟩ Article dans une revue hal-02919035v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype Arnaud Boulling , Emmanuelle Masson , Wen‐bin Zou , Sumit Paliwal , Hao Wu , et al. Human Mutation, 2017, 38 (8), pp.1014-1024. ⟨10.1002/humu.23269⟩ Article dans une revue hal-02946985v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		ITGA6 homozygous splice-site mutation causes junctional epidermolysis bullosa in Charolais cattle Cécile Grohs , Mekki Boussaha , Arnaud Boulling , Valérie Wolgust , Lorraine Bourgeois-Brunel , et al. Book of Abstracts of the 74. Annual Meeting of the European Federation of Animal Science, INRAE, Aug 2023, Lyon, France. pp.524 Communication dans un congrès hal-04200626v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		No Association Between CEL–HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations Wen-Bin Zou , Arnaud Boulling , Atsushi Masamune , Prachand Issarapu , Emmanuelle Masson , et al. Gastroenterology, 2016, 150 (7), pp.1558-1560.e5. ⟨10.1053/j.gastro.2016.02.071⟩ Article dans une revue hal-02946806v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		In silico prioritization and further functional characterization of SPINK1 intronic variants Wen-Bin Zou , Hao Wu , Arnaud Boulling , David Cooper , Zhao-Shen Li , et al. Human Genomics, 2017, 11 (1), ⟨10.1186/s40246-017-0103-9⟩ Article dans une revue hal-02946980v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis Wen-Bin Zou , Arnaud Boulling , Emmanuelle Masson , David Cooper , Zhuan Liao , et al. Gut, 2016, 65 (5), pp.884-886. ⟨10.1136/gutjnl-2015-311168⟩ Article dans une revue hal-02946789v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity Jin‐huan Lin , Emmanuelle Masson , Arnaud Boulling , Matthew Hayden , David Cooper , et al. Human Mutation, 2020, 41 (8), pp.1358-1364. ⟨10.1002/humu.24029⟩ Article dans une revue hal-02947032v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Assessing the pathological relevance of SPINK1 promoter variants Arnaud Boulling , Heiko Witt , Giriraj Ratan Chandak , Emmanuelle Masson , Sumit Paliwal , et al. European Journal of Human Genetics, 2011, 19 (10), pp.1066-1073. ⟨10.1038/ejhg.2011.79⟩ Article dans une revue hal-02946691v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay Nicolas Gaiani , Lorraine Bourgeois-Brunel , Dominique Rocha , Arnaud Boulling 39. Congress of the international society for animal genetics (ISAG), Jul 2023, Cape town, South Africa. 2023 Poster de conférence hal-04485158v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts Jin‐huan Lin , Xin‐ying Tang , Arnaud Boulling , Wen‐bin Zou , Emmanuelle Masson , et al. Human Mutation, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩ Article dans une revue hal-02376953v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Digging deeper into the intronic sequences of the SPINK1 gene Wen-Bin Zou , Emmanuelle Masson , Arnaud Boulling , David Cooper , Zhao-Shen Li , et al. Gut, 2016, 65 (6), pp.1055-1056. ⟨10.1136/gutjnl-2016-311428⟩ Article dans une revue hal-02946798v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Assessing the pathological relevance of SPINK1 promoter variants Jian-Min Chen , Arnaud Boulling , Heiko Witt , Giriraj Chandak , Emmanuelle Masson , et al. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2011.79⟩ Article dans une revue hal-00644722v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations. Wen-Bin Zou , Arnaud Boulling , Atsushi Masamune , Prachand Issarapu , Emmanuelle Masson , et al. Gastroenterology, 2016, ⟨10.1053/j.gastro.2016.02.071⟩ Article dans une revue inserm-01293422v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Coupling ex vivo electroporation of mouse retinas and luciferase reporter assays to assess rod-specific promoter activity

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic Pancreatitis

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle

Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay

Functional Analysis of Eight Missense Mutations in the SPINK1 Gene

Genetic analysis of the STIM1 gene in chronic pancreatitis

Genes and variants involved in resistance to paratuberculosis in Holstein and Normande cattle

Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis

In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

Identification and characterisation of mitochondrial sequences integrated into the ovine nuclear genome

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay

Identification of HMX1 target genes: a predictive promoter model approach

Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639

The c.1275A>G putative chronic pancreatitis-associated synonymous polymorphism in the glycoprotein 2 (GP2) gene decreases exon 9 inclusion

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis

Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype

ITGA6 homozygous splice-site mutation causes junctional epidermolysis bullosa in Charolais cattle

No Association Between CEL–HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations

In silico prioritization and further functional characterization of SPINK1 intronic variants

Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis

5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

Assessing the pathological relevance of SPINK1 promoter variants

Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay

First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Digging deeper into the intronic sequences of the SPINK1 gene

Assessing the pathological relevance of SPINK1 promoter variants

No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations.