المؤلفون: Oussalah, Abderrahim, Siblini, Youssef, Hergalant, Sébastien, Chéry, Céline, Rouyer, Pierre, Cavicchi, Catia, Guerrini, Renzo, Morange, Pierre-Emmanuel, Trégouët, David, Pupavac, Mihaela, Watkins, David, Pastinen, Tomi, Chung, Wendy, Ficicioglu, Can, Feillet, François, Froese, D. Sean, Baumgartner, Matthias, Benoist, Jean-François, Majewski, Jacek, Morrone, Amelia, Rosenblatt, David, Guéant, Jean-Louis

المساهمون: Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Biochimie – Biologie moléculaire et Nutrition CHRU Nancy, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Azienda Ospedaliero Universitaria Meyer Firenze = Meyer Children's University Hospital Florence (AOU Meyer), Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), McGill University = Université McGill Montréal, Canada, Columbia University Medical Center (CUMC), Columbia University New York, Perelman School of Medicine, University of Pennsylvania, Children’s Hospital of Philadelphia (CHOP ), University Children’s Hospital Zurich, Universität Zürich Zürich = University of Zurich (UZH), Hôpital Robert Debré, McGill University Health Center Montreal (MUHC), Service d'Hépato-gastro-entérologie CHRU Nancy, ANR-15-IDEX-0004,LUE,Isite LUE(2015)

المصدر: ISSN: 1868-7083 ; Clinical Epigenetics ; https://hal.univ-lorraine.fr/hal-03664165 ; Clinical Epigenetics, 2022, 14 (1), pp.52. ⟨10.1186/s13148-022-01271-1⟩.

مصطلحات موضوعية: Epi-cblC, MMACHC, Methylmalonic aciduria and homocystinuria, cblC type, Promoter hypermethylation, Secondary epimutation, TESK2, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], [MATH.MATH-PR]Mathematics [math]/Probability [math.PR], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.MN]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35440018; hal-03664165; https://hal.univ-lorraine.fr/hal-03664165; https://hal.univ-lorraine.fr/hal-03664165/document; https://hal.univ-lorraine.fr/hal-03664165/file/13148_2022_Article_1271.pdf; PUBMED: 35440018; PUBMEDCENTRAL: PMC9020039

الاتاحة: https://hal.univ-lorraine.fr/hal-03664165
https://hal.univ-lorraine.fr/hal-03664165/document
https://hal.univ-lorraine.fr/hal-03664165/file/13148_2022_Article_1271.pdf
https://doi.org/10.1186/s13148-022-01271-1

المؤلفون: Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, La Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria, Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia

المساهمون: Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Naples Federico II = Università degli studi di Napoli Federico II, Azienda Ospedaliero-Universitaria Policlinico “Gaspare Rodolico”, Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute Milan, Meyer Children's Hospital Florence, Italie, Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-15-IDEX-0004,LUE,Isite LUE(2015)

المصدر: ISSN: 1868-7083 ; Clinical Epigenetics ; https://hal.sorbonne-universite.fr/hal-03278520 ; Clinical Epigenetics, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩.

مصطلحات موضوعية: Secondary epimutation, Promoter hypermethylation, CpG island, Methylmalonic aciduria and homocystinuria, cblC type, cblC disease, Epi-cblC, Expanded newborn screening (NBS), [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/34215320; PUBMED: 34215320; PUBMEDCENTRAL: PMC8254308; WOS: 000669202600001

الاتاحة: https://hal.sorbonne-universite.fr/hal-03278520
https://hal.sorbonne-universite.fr/hal-03278520v1/document
https://hal.sorbonne-universite.fr/hal-03278520v1/file/s13148-021-01117-2.pdf
https://doi.org/10.1186/s13148-021-01117-2

المؤلفون: Catia Cavicchi (11070072), Abderrahim Oussalah (11070075), Silvia Falliano (11070078), Lorenzo Ferri (739800), Alessia Gozzini (12578), Serena Gasperini (5844851), Serena Motta (11070081), Miriam Rigoldi (5555897), Giancarlo Parenti (754610), Albina Tummolo (9672449), Concetta Meli (11070084), Francesca Menni (6177524), Francesca Furlan (11070087), Marta Daniotti (11070090), Sabrina Malvagia (2123374), Giancarlo la Marca (8719863), Céline Chery (11070093), Pierre-Emmanuel Morange (161602), David Tregouet (248800), Maria Alice Donati (10963960), Renzo Guerrini (213811), Jean-Louis Guéant (118057), Amelia Morrone (11070096)

مصطلحات موضوعية: Genetics, Secondary epimutation, Promoter hypermethylation, CpG island, Methylmalonic aciduria and homocystinuria, cblC type, cblC disease, Epi-cblC, Expanded newborn screening (NBS)

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_PRDX1_gene-related_epi-cblC_disease_is_a_common_type_of_inborn_error_of_cobalamin_metabolism_with_mono-_or_bi-allelic_MMACHC_epimutations/14904009

الاتاحة: https://doi.org/10.6084/m9.figshare.14904009.v2

المؤلفون: Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, Céline Chéry, Pierre Rouyer, Catia Cavicchi, Renzo Guerrini, Pierre-Emmanuel Morange, David Trégouët, Mihaela Pupavac, David Watkins, Tomi Pastinen, Wendy K. Chung, Can Ficicioglu, François Feillet, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Jacek Majewski, Amelia Morrone, David S. Rosenblatt, Jean-Louis Guéant

المساهمون: Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Biochimie – Biologie moléculaire et Nutrition [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Azienda Ospedaliero Universitaria A. Meyer [Firenze, Italy], Università degli Studi di Firenze = University of Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), McGill University = Université McGill [Montréal, Canada], Columbia University Medical Center (CUMC), Columbia University [New York], Perelman School of Medicine, University of Pennsylvania, Children’s Hospital of Philadelphia (CHOP ), University Children’s Hospital Zurich, Universität Zürich [Zürich] = University of Zurich (UZH), Hôpital Robert Debré, McGill University Health Center [Montreal] (MUHC), Service d'Hépato-gastro-entérologie [CHRU Nancy], ANR-15-IDEX-0004,LUE,Isite LUE(2015), Hergalant, Sébastien, ISITE - Isite LUE - - LUE2015 - ANR-15-IDEX-0004 - IDEX - VALID

المصدر: Clinical Epigenetics
Clinical Epigenetics, 2022, 14 (1), pp.52. ⟨10.1186/s13148-022-01271-1⟩

مصطلحات موضوعية: [MATH.MATH-PR] Mathematics [math]/Probability [math.PR], [SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BBM.MN]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Methylmalonic aciduria and homocystinuria, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], TESK2, [MATH.MATH-PR]Mathematics [math]/Probability [math.PR], Promoter hypermethylation, Secondary epimutation, [SDV.BBM.MN] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, cblC type, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Molecular Biology, Genetics (clinical), MMACHC, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM], Developmental Biology, Epi-cblC

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6386fb5b3d9ff891e941b0744d967396
https://hal.univ-lorraine.fr/hal-03664165/document

المؤلفون: Serena Motta, Jean-Louis Guéant, Giancarlo Parenti, Maria Alice Donati, Giancarlo la Marca, Sabrina Malvagia, Catia Cavicchi, David-Alexandre Trégouët, Céline Chéry, Marta Daniotti, Silvia Falliano, Amelia Morrone, Alessia Gozzini, Miriam Rigoldi, Serena Gasperini, Renzo Guerrini, Francesca Furlan, Francesca Menni, Abderrahim Oussalah, Pierre-Emmanuel Morange, Concetta Meli, Albina Tummolo, Lorenzo Ferri

المساهمون: Gestionnaire, HAL Sorbonne Université 5, Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), University of Naples Federico II = Università degli studi di Napoli Federico II, Azienda Ospedaliero-Universitaria Policlinico 'Gaspare Rodolico', Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan], Meyer Children's Hospital [Florence, Italie], Università degli Studi di Firenze = University of Florence (UniFI), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Napoli Federico II, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Clinical Epigenetics
Clinical Epigenetics, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩
Clinical Epigenetics, BioMed Central, 2021, 13 (1), pp.137. ⟨10.1186/s13148-021-01117-2⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Locus (genetics), Homocystinuria, Compound heterozygosity, Methylmalonic aciduria and homocystinuria, 03 medical and health sciences, Secondary epimutation, 0302 clinical medicine, Neonatal Screening, Genetics, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Allele, Molecular Biology, Genetics (clinical), Genetic testing, Epi-cblC, medicine.diagnostic_test, business.industry, Research, cblC disease, Infant, Newborn, Expanded newborn screening (NBS), Peroxiredoxins, DNA Methylation, medicine.disease, MMACHC, Human genetics, 3. Good health, Promoter hypermethylation, Vitamin B 12, 030104 developmental biology, CpG island, cblC type, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, CBLC, business, Oxidoreductases, 030217 neurology & neurosurgery, Metabolism, Inborn Errors, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::914384085e2e89b0b7d6ea5fec41af20
http://hdl.handle.net/2158/1252120