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26 résultats

	Pour les 26 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page :	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

		A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1 Philippine Eloy , Catherine Dehainault , Meriem Sefta , Isabelle Aerts , François Doz , et al. PLoS Genetics, 2016, 12 (2), pp.e1005888. ⟨10.1371/journal.pgen.1005888⟩ Article dans une revue hal-01286009v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Lack of evidence for CDK12 as an ovarian cancer predisposing gene Alexandre Eeckhoutte , Mathilde Saint-Ghislain , Manon Reverdy , Virginie Raynal , Sylvain Baulande , et al. Familial Cancer, 2020, 19 (3), pp.203-209. ⟨10.1007/s10689-020-00169-2⟩ Article dans une revue inserm-03036539v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer Grégoire Davy , Antoine Rousselin , Nicolas Goardon , Laurent Castéra , Valentin Harter , et al. European Journal of Human Genetics, 2017, 25 (10), pp.1147-1154. ⟨10.1038/ejhg.2017.116⟩ Article dans une revue hal-02336114v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis François Lecoquierre , Kevin Cassinari , Pascal Chambon , Gaël Nicolas , Sarah Malsa , et al. European Journal of Medical Genetics, 2020, 63 (4), pp.103773. ⟨10.1016/j.ejmg.2019.103773⟩ Article dans une revue hal-02376908v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers Paolo Peterlongo , J. Chang-Claude , Kirsten Moysich , Anja Rudolph , Rita Schmutzler , et al. Cancer Epidemiology, Biomarkers and Prevention, 2015, 24 (1), pp.308-316. ⟨10.1158/1055-9965.EPI-14-0532⟩ Article dans une revue hal-02192226v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer Sandrine Caputo , Mélanie Léoné , Francesca Damiola , Asa Ehlen , Aura Carreira , et al. Oncotarget, 2018, 9 (9), pp.17334-17348. ⟨10.18632/oncotarget.24671⟩ Article dans une revue hal-01928011v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Germline mutation in the RAD51B gene confers predisposition to breast cancer. Lisa Golmard , Virginie Caux-Moncoutier , Grégoire Davy , Essam Al Ageeli , Brigitte Poirot , et al. BMC Cancer, 2013, 13 (1), pp.484. ⟨10.1186/1471-2407-13-484⟩ Article dans une revue inserm-00878230v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort Raphael Leman , Pascaline Gaildrat , Gerald L. Gac , Chandran Ka , Yann Fichou , et al. Nucleic Acids Research, 2018, 46 (15), pp.7913-7923. ⟨10.1093/nar/gky372⟩ Article dans une revue hal-01910334v1	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
		Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12 Laëtitia Meulemans , Romy L.S. Mesman , Sandrine Caputo , Sophie Krieger , Marine Guillaud-Bataille , et al. Cancer Research, 2020, 80 (7), pp.1374-1386. ⟨10.1158/0008-5472.CAN-19-2491⟩ Article dans une revue hal-02929535v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). Claude Houdayer , Catherine Bonaïti-Pellié , Caroline Erguy , Véronique Soupre , Marie-Gabrielle Dondon , et al. Am J Med Genet, 2001, 104, pp.86-92 Article dans une revue inserm-00117142v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms Miguel de La Hoya , Omar Soukarieh , Irene Lopez-Perolio , Ana Vega , Logan Walker , et al. Human Molecular Genetics, 2016, 25 (11), pp.2256-2268. ⟨10.1093/hmg/ddw094⟩ Article dans une revue hal-02336165v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mosaicism and prenatal diagnosis options: insights from retinoblastoma Catherine Dehainault , Lisa Golmard , Gaël Millot , Agathe Charpin , Anthony Laugé , et al. European Journal of Human Genetics, 2017, 25 (3), pp.381-383. ⟨10.1038/ejhg.2016.174⟩ Article dans une revue pasteur-03105162v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk Ambre Petitalot , Elodie Dardillac , Eric Jacquet , Naima Nhiri , Josee Guirouilh-Barbat , et al. Molecular Cancer Research, 2019, 17 (1), pp.54--69. ⟨10.1158/1541-7786.MCR-17-0357⟩ Article dans une revue hal-02173633v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification Françoise Revillion , Michael T. Parsons , Emma Tudini , Hongyan Li , Eric Hahnen , et al. Human Mutation, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩ Article dans une revue hal-02194510v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		BRCA Share: A Collection of Clinical BRCA Gene Variants Christophe Béroud , Stanley I Letovsky , Corey D Braastad , Sandrine M Caputo , Olivia Beaudoux , et al. Human Mutation, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1318-1328. ⟨10.1002/humu.23113⟩ Article dans une revue hal-01670197v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Multiple sequence variants of BRCA2 exon 7 alter splicing regulation Pascaline Gaildrat , Sophie E. Krieger , Daniela Di Giacomo , Julie Abdat , Françoise Révillion , et al. Journal of Medical Genetics, 2012, 49 (10), pp.609-617. ⟨10.1136/jmedgenet-2012-100965⟩ Article dans une revue istex hal-02336313v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making Pierre Thouvenot , Barbara Ben Yamin , Lou Fourrière , Aurianne Lescure , Thomas Boudier , et al. PLoS Genetics, 2016, 12 (6), pp.e1006096. ⟨10.1371/journal.pgen.1006096⟩ Article dans une revue hal-01360165v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		EMMA, a cost and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. Virginie Caux-Moncoutier , Laurent Castera , Carole Tirapo , Dorothée Michaux , Marie-Alice Remon , et al. Human Mutation, 2011, 32 (3), pp.325. ⟨10.1002/humu.21414⟩ Article dans une revue hal-00613913v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers Fabienne Lesueur , Noura Mebirouk , Yue Jiao , Laure Barjhoux , Muriel Belotti , et al. Frontiers in Oncology, 2018, 8, pp.490. ⟨10.3389/fonc.2018.00490⟩ Article dans une revue hal-01926758v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1 ‐related hereditary predisposition syndrome? Marion Imbert‐bouteille , Marion Gauthier‐villars , Dominique Leroux , Isabelle Meunier , Isabelle Aerts , et al. Molecular Genetics & Genomic Medicine, 2019, 7, pp.e913. ⟨10.1002/mgg3.913⟩ Article dans une revue hal-02376947v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers Lisa Golmard , Laurent Castéra , Sophie Krieger , Virginie Moncoutier , Khadija Abidallah , et al. European Journal of Human Genetics, 2017, 25 (12), pp.1345-1353. ⟨10.1038/s41431-017-0021-2⟩ Article dans une revue hal-02194429v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study (vol 26, pg 314, 2018) Rajae Touzani , Dede Sika Kossi , Zou Zhaomin , Nathanael Charrier , Sandrine Baffert , et al. European Journal of Human Genetics, 2018, 26 (9), pp.1396-1397. ⟨10.1038/s41431-018-0194-3⟩ Article dans une revue hal-02146886v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy Amélie Chaussade , Gaël A Millot , Constance Wells , Hervé J Brisse , Marick Laé , et al. European Journal of Medical Genetics, 2019, 62 (3), pp.217-223. ⟨10.1016/j.ejmg.2018.07.017⟩ Article dans une revue hal-02715581v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas Alice Goldenberg , Florent Marguet , Vianney Gilard , Aude-Marie Cardine , Adnan Hassani , et al. Acta Neuropathologica Communications, 2019, 7 (1), pp.191. ⟨10.1186/s40478-019-0841-0⟩ Article dans une revue hal-02538271v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Antonis Antoniou , Karoline Kuchenbaecker , Penny Soucy , Jonathan Beesley , Xiaoqing Chen , et al. Breast Cancer Research, 2012, 14 (1), pp.R33. ⟨10.1186/bcr3121⟩ Article dans une revue inserm-00681614v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer

Patients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis

Candidate Genetic Modifiers for Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

Germline mutation in the RAD51B gene confers predisposition to breast cancer.

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

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

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Mosaicism and prenatal diagnosis options: insights from retinoblastoma

Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

BRCA Share: A Collection of Clinical BRCA Gene Variants

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation

Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making

EMMA, a cost and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers

Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1 ‐related hereditary predisposition syndrome?

Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study (vol 26, pg 314, 2018)

Correlation between RB1germline mutations and second primary malignancies in hereditary retinoblastoma patients treated with external beam radiotherapy

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.