المؤلفون: Herzig, Anthony, Francis, Nutile, Teresa, Babron, Marie-Claude, Ciullo, Marina, Bellenguez, Céline, Leutenegger, Anne-Louise

المساهمون: Variabilité Génétique et Maladies Humaines (U946), Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Institute of Genetics and Biophysics "A. Buzzati Traverso" Naples, Italy, National Research Council of Italy, Istituto Neurologico Mediterraneo (NEUROMED I.R.C.C.S.), Università degli Studi di Roma "La Sapienza" = Sapienza University Rome (UNIROMA)-University of Naples Federico II = Università degli studi di Napoli Federico II, Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Excellence Laboratory LabEx DISTALZ, ESGI—The research leading to these results has received funding from the Seventh Framework Programme FP7/2007‐2013 under grant agreement no. 262055. A.F.H. was funded by an international Ph.D. fellowship from Sorbonne Paris Cité (convention HERZI15RDXMTSPC1LIETUE)., We address special thanks to the people of Campora for their participation in the study. We kindly thank the European Genome‐phenome Archive at the European Bioinformatics Institute for making available the UK10K imputation panel (EGAD00001000776) and HRC imputation panel (EGAD00001002729) for the use in our simulation study. We also thank the two anonymous reviewers for their comments that greatly improved the manuscript., European Project: 262055,EC:FP7:INFRA,FP7-INFRASTRUCTURES-2010-1,ESGI(2011)

المصدر: ISSN: 0741-0395.

مصطلحات موضوعية: genotyping errors, linkage disequilibrium, identity by descent, founder effect, study specific panel, MESH: Algorithms, MESH: Chromosomes, Human, Pair 10/genetics, MESH: Male, MESH: Models, Genetic, MESH: Pedigree, MESH: Phenotype, MESH: Research Design, MESH: Software, MESH: Female, MESH: Founder Effect, MESH: Genetics, Population, MESH: Genome, Human/genetics, MESH: Haplotypes/genetics, MESH: Humans, MESH: Italy, MESH: Linkage Disequilibrium/genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29319195; info:eu-repo/grantAgreement/EC/FP7/262055/EU/European Sequencing and Genotyping Infrastructure/ESGI; inserm-01645064; https://inserm.hal.science/inserm-01645064Test; https://inserm.hal.science/inserm-01645064/documentTest; https://inserm.hal.science/inserm-01645064/file/HERZIG_Article_HAL_INSERM.pdfTest; PUBMED: 29319195

الإتاحة: https://doi.org/10.1002/gepi.22109Test
https://inserm.hal.science/inserm-01645064Test
https://inserm.hal.science/inserm-01645064/documentTest
https://inserm.hal.science/inserm-01645064/file/HERZIG_Article_HAL_INSERM.pdfTest

المؤلفون: Monin, P., Reynaud, N., Hanna, N., Dupuis-Girod, S., Till, M., Arnaud, P., Labalme, A., Alix, E., Poizat-Amar, C., Faoucher, M., Ravella, L., Debost, B., Obadia, J. F., Zech, J. C., Boileau, C., Sanlaville, D., Edery, P., Putoux, A., Schluth-Bolard, C.

المساهمون: Risques, Ecosystèmes, Vulnérabilité, Environnement, Résilience (RECOVER), Aix Marseille Université (AMU)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), POLE HYDROECOLOGIE DES PLANS D'EAU AIX EN PROVENCE FRA, Partenaires IRSTEA, Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Département d'Anesthésie Réanimation, Centre Hospitalier Louis Pradel, Service de génétique et centre de référence pour la maladie de Rendu-Osler, Hospices Civils de Lyon (HCL), Hôpital Debrousse, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Femme Mère Enfant CHU - HCL (HFME)

المصدر: Cytogenetic and genome research ; https://hal.science/hal-02901752Test ; Cytogenetic and genome research, 2020, 160 (2), pp.72--79. ⟨10.1159/000506319⟩

مصطلحات موضوعية: Humans, Male, Young Adult, Mosaicism, Aorta/*abnormalities, Bicuspid aortic valve, Chromosomes, Human, Pair 10/genetics, Pair 13/genetics, Comparative Genomic Hybridization, In Situ Hybridization, Fluorescence, Interstitial telomere, Marfan Syndrome/*etiology, Translocation, Genetic, Trisomy 13, Trisomy 13 Syndrome/*diagnosis/genetics, [SDV]Life Sciences [q-bio]

العلاقة: hal-02901752; https://hal.science/hal-02901752Test

الإتاحة: https://doi.org/10.1159/000506319Test
https://hal.science/hal-02901752Test

المؤلفون: Audrey Labalme, Jean-François Obadia, Patrick Edery, Sophie Dupuis-Girod, Marianne Till, Bernard Debost, Pauline Monin, Damien Sanlaville, Lucie Ravella, Nicolas Reynaud, Nadine Hanna, Audrey Putoux, Pauline Arnaud, Catherine Boileau, Coline Poizat-Amar, Jean-Christophe Zech, Eudeline Alix, Marie Faoucher, Caroline Schluth-Bolard

المساهمون: Risques, Ecosystèmes, Vulnérabilité, Environnement, Résilience (RECOVER), Aix Marseille Université (AMU)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), POLE HYDROECOLOGIE DES PLANS D'EAU AIX EN PROVENCE FRA, Partenaires IRSTEA, Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Département d'Anesthésie Réanimation, Centre Hospitalier Louis Pradel, Service de génétique et centre de référence pour la maladie de Rendu-Osler, Hospices Civils de Lyon (HCL), Hôpital Debrousse, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Aix Marseille Université (AMU), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Cytogenetic and genome research
Cytogenetic and genome research, 2020, 160 (2), pp.72--79. ⟨10.1159/000506319⟩

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Derivative chromosome, Trisomy 13 Syndrome, Bicuspid aortic valve, [SDV]Life Sciences [q-bio], Aortic root dilatation, Translocation, Chromosomal translocation, Biology, Translocation, Genetic, Chromosomes, Fluorescence, Marfan Syndrome, Mosaicism, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Genetic, Pair 10/genetics, Genetics, medicine, Humans, Molecular Biology, Genetics (clinical), Aorta, In Situ Hybridization, Fluorescence, In Situ Hybridization, Pair 13/genetics, 0303 health sciences, Comparative Genomic Hybridization, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 10, 030305 genetics & heredity, Breakpoint, Dystrophy, Marfan Syndrome/*etiology, medicine.disease, Telomere, Interstitial telomere, Trisomy 13, Trisomy 13 Syndrome/*diagnosis/genetics, Aorta/*abnormalities, Trisomy, 030217 neurology & neurosurgery, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed0021b89b58804ce14d8d6ce5cb6409Test
https://hal.science/hal-02901752Test

المؤلفون: Bergamaschi, Anna, Kim, Young H, Kwei, Kevin A, Choi, Yoon La, Bocanegra, Melanie, Langerod, Anita, Han, Wonshik, Noh, Dong-Young, Huntsman, David G, Jeffrey, Stefanie S, Borresen-Dale, Anne-Lise, Pollack, Jonathan R

المساهمون: 최윤라, 한원식, 노동영

مصطلحات موضوعية: Breast Neoplasms/*pathology, Calcium-Calmodulin-Dependent Protein Kinase Type 1/analysis/*genetics, Cell Adhesion/genetics, Cell Proliferation, Chromosomes, Human, Pair 10/genetics, Epithelial Cells/*pathology, Female, Humans, Immunohistochemistry, Mesenchymal Stem Cells/classification/*pathology, Neoplasm Invasiveness/genetics, Oligonucleotide Array Sequence Analysis, Gene Amplification

العلاقة: Mol Oncol. 2008 ;2(4):327-39.; 1878-0261 (Electronic); 1574-7891 (Print); https://hdl.handle.net/10371/62439Test

الإتاحة: https://doi.org/10.1016/j.molonc.2008.09.004Test
https://hdl.handle.net/10371/62439Test

المؤلفون: Vizmanos-Pérez, J.L. (José Luis), Larrayoz, M.J. (María J.), Lahortiga, I. (Idoya), Floristan, F. (Filomena), Alvarez, C. (Carmen), Odero, M.D. (Maria Dolores), Novo-Villaverde, F. J. (Francisco Javier), Calasanz-Abinzano, M.J. (Maria Jose)

مصطلحات موضوعية: Chromosomes, Human, Pair 10/genetics, Pair 16/genetics, Leukemia, Monocytic, Acute/genetics, Nuclear Proteins/genetics, Oncogene Proteins, Fusion/genetics, Saccharomyces cerevisiae Proteins/genetics, Trans-Activators/genetics

وصف الملف: application/pdf

العلاقة: https://hdl.handle.net/10171/19610Test

الإتاحة: https://hdl.handle.net/10171/19610Test

المؤلفون: Teresa Nutile, Anthony F. Herzig, Céline Bellenguez, Anne-Louise Leutenegger, Marie Claude Babron, Marina Ciullo

المساهمون: Variabilité Génétique et Maladies Humaines, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Institute of Genetics and Biophysics 'A. Buzzati Traverso' [Naples, Italy], National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), Istituto Neurologico Mediterraneo (NEUROMED I.R.C.C.S.), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA)-University of Naples Federico II = Università degli studi di Napoli Federico II, Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Excellence Laboratory LabEx DISTALZ, ESGI—The research leading to these results has received funding from the Seventh Framework Programme [FP7/2007‐2013] under grant agreement no. 262055. A.F.H. was funded by an international Ph.D. fellowship from Sorbonne Paris Cité (convention HERZI15RDXMTSPC1LIETUE)., We address special thanks to the people of Campora for their participation in the study. We kindly thank the European Genome‐phenome Archive at the European Bioinformatics Institute for making available the UK10K imputation panel (EGAD00001000776) and HRC imputation panel (EGAD00001002729) for the use in our simulation study. We also thank the two anonymous reviewers for their comments that greatly improved the manuscript., European Project: 262055,EC:FP7:INFRA,FP7-INFRASTRUCTURES-2010-1,ESGI(2011), Consiglio Nazionale delle Ricerche [Roma] (CNR), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]-Università degli studi di Napoli Federico II, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Herzig, Anthony, European Sequencing and Genotyping Infrastructure - ESGI - - EC:FP7:INFRA2011-02-01 - 2015-07-31 - 262055 - VALID

المصدر: Genetic Epidemiology
Genetic Epidemiology, 2017, Epub ahead of print. ⟨10.1002/gepi.22109⟩
Genetic Epidemiology, Wiley, 2017, Epub ahead of print. ⟨10.1002/gepi.22109⟩
Genetic epidemiology
42 (2018): 201–213. doi:10.1002/gepi.22109
info:cnr-pdr/source/autori:Herzig, Anthony Francis; Nutile, Teresa; Babron, Marie-Claude; Ciullo, Marina; Bellenguez, Celine; Leutenegger, Anne-Louise et al./titolo:Strategies for phasing and imputation in a population isolate/doi:10.1002%2Fgepi.22109/rivista:Genetic epidemiology (Print)/anno:2018/pagina_da:201/pagina_a:213/intervallo_pagine:201–213/volume:42

مصطلحات موضوعية: 0301 basic medicine, Male, Linkage disequilibrium, Epidemiology, Computer science, MESH: Software, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Haplotypes/genetics, Identity by descent, Software, MESH: Models, Genetic, Genetics (clinical), education.field_of_study, MESH: Chromosomes, Human, Pair 10/genetics, MESH: Genetics, Population, genotyping errors, Pedigree, Phenotype, founder effect, Italy, Research Design, study specific panel, Female, Algorithms, MESH: Pedigree, Population, MESH: Algorithms, Computational biology, MESH: Phenotype, identity by descent, 03 medical and health sciences, Gene mapping, MESH: Founder Effect, Humans, MESH: Research Design, education, Genotyping, MESH: Linkage Disequilibrium/genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Models, Genetic, business.industry, Chromosomes, Human, Pair 10, Genome, Human, MESH: Italy, MESH: Male, 030104 developmental biology, Genetics, Population, MESH: Genome, Human/genetics, Haplotypes, business, MESH: Female, Imputation (genetics), linkage disequilibrium, Founder effect

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::069f1688bc461a7e20bd1a7fd4db4db5Test
https://www.hal.inserm.fr/inserm-01645064/documentTest

المؤلفون: Yadav, Ajay K, Renfrow, Jaclyn J, Scholtens, Denise M, Xie, Hehuang, Duran, George E, Bredel, Claudia, Vogel, Hannes, Chandler, James P, Chakravarti, Arnab, Robe, Pierre, Das, Sunit, Scheck, Adrienne C, Kessler, John A, Soares, Marcelo B, Sikic, Branimir I, Harsh, Griffith R, Bredel, Markus

المصدر: JAMA: Journal of the American Medical Association, 302 (3), 276-89 (2009)

مصطلحات موضوعية: Annexin A7/genetics/metabolism, Brain Neoplasms/genetics/metabolism/mortality, Cell Line, Tumor, Cell Transformation, Neoplastic/genetics, Chromosomes, Human, Pair 10/genetics, Pair 7, Epidermal Growth Factor/metabolism, Epigenesis, Genetic, Female, Gene Deletion, Gene Dosage, Gene Expression, Gene Expression Regulation, Neoplastic, Gene Knockdown Techniques, Genes, Tumor Suppressor, Glioblastoma/genetics/metabolism/mortality, Humans, Loss of Heterozygosity, Male, Middle Aged, Monosomy, Mutation, PTEN Phosphohydrolase/genetics

العلاقة: urn:issn:0098-7484; urn:issn:1538-3598; https://orbi.uliege.be/handle/2268/40299Test; info:hdl:2268/40299; scopus-id:2-s2.0-67651030609; info:pmid:19602687

الإتاحة: https://doi.org/10.1001/jama.2009.1022Test
https://orbi.uliege.be/handle/2268/40299Test

المؤلفون: Alexiou, G. A., Markoula, S., Gogou, P., Kyritsis, A. P.

مصطلحات موضوعية: Chromosome Aberrations, Neoplasms, Radiation-Induced/genetics/pathology, Cytogenetics, Chromosomes, Human, Pair 10/genetics, Animals, Humans, Telomerase/genetics/metabolism, Biological Markers, Prognosis, Meningioma/*genetics/*metabolism/pathology, Cell Proliferation, Chromosomes, Human, Pair 22/genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_____10561::1182c18c3efac1106facdf8adfcc3ea4Test
http://olympias.lib.uoi.gr/jspui/handle/123456789/21429Test

المؤلفون: Sellick, G.S., Barker, K.T., Stolte-Dijkstra, I., Fleischmann, C., Coleman, R.J., Garrett, C., Gloyn, A.L., Edghill, E.L., Hattersley, A.T., Wellauer, P.K., Goodwin, G., Houlston, R.S.

المصدر: Nature Genetics, vol. 36, no. 12, pp. 1301-1305

مصطلحات موضوعية: Animals, Base Sequence, Blotting, Western, Cerebellum/pathology, Chromosomes, Human, Pair 10/genetics, Computational Biology, Consanguinity, Diabetes Mellitus/genetics, Histological Techniques, Humans, Infant, Linkage (Genetics), Lod Score, Mice, Mutant Strains, Microsatellite Repeats/genetics, Molecular Sequence Data, Mutation/genetics, Pancreas/pathology, Pedigree, Phenotype, Sequence Analysis, DNA, Transcription Factors/genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15543146; info:eu-repo/semantics/altIdentifier/pissn/1061-4036; https://serval.unil.ch/notice/serval:BIB_31705Test

الإتاحة: https://doi.org/10.1038/ng1475Test
https://serval.unil.ch/notice/serval:BIB_31705Test

المؤلفون: Pollock, P.M., Walker, G.J., Glendening, J.M., Que Noy, T., Bloch, N.C., Fountain, J.W., Hayward, N.K.

المصدر: Melanoma Research

مصطلحات موضوعية: Chromosomes, Human, Pair 10/genetics, Gene Amplification, Gene Deletion, Humans, Loss of Heterozygosity, Matched-Pair Analysis, Melanoma/ genetics, Microsatellite Repeats, PTEN Phosphohydrolase, Phosphoric Monoester Hydrolases/ genetics, Reverse Transcriptase Polymerase Chain Reaction, Skin Neoplasms/ genetics, Tumor Cells, Cultured, Tumor Suppressor Proteins/ genetics

العلاقة: http://journals.lww.com/melanomaresearch/Abstract/2002/12000/PTEN_inactivation_is_rare_in_melanoma_tumours_but.6.aspxTest; Pollock, P.M., Walker, G.J., Glendening, J.M., Que Noy, T., Bloch, N.C., Fountain, J.W., & Hayward, N.K. (2002) PTEN inactivation is rare in melanoma tumours but occurs frequently in melanoma cell lines. Melanoma Research, 12(6), pp. 565-575.; https://eprints.qut.edu.au/45822Test/; Faculty of Science and Technology; Institute of Health and Biomedical Innovation; CRC for Diagnostics

الإتاحة: https://eprints.qut.edu.au/45822Test/