المؤلفون: Kachmar, Jessica, Boyer, Olivia, Lipska-Ziętkiewicz, Beata, Morinière, Vincent, Gribouval, Olivier, Heidet, Laurence, Balasz-Chmielewska, Irena, Benetti, Elisa, Cloarec, Sylvie, Csaicsich, Dagmar, Decramer, Stéphane, Gellermann, Jutta, Guigonis, Vincent, Hogan, Julien, Bayazit, Aysun Karabay, Melk, Anette, Nigmatullina, Nazym, Oh, Jun, Ozaltin, Fatih, Ranchin, Bruno, Tsimaratos, Michel, Trautmann, Agnes, Antignac, Corinne, Schaefer, Franz, Dorval, Guillaume, Boutaba, Mounia, Csaiscich, Dagmar, Baiko, Sergay, Azocar, Marta, Quiroz, Lily, Serna Higuita, Lina Maria, Dušek, Jiří, Zaloszyc, Adriane, Davitaia, Tinatin, Staude, Hagen, Printza, Nikoleta, Tory, Kalman, Gheissari, Alaleh, Remuzzi, Giuseppe, Pasini, Andrea, Ghiggeri, Gian Marco, Ardissino, Gianluigi, Emma, Francesco, Camilla, Roberta

المساهمون: European Commission, Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung, Türkiye Bilimsel ve Teknolojik Araştırma Kurumu, Ministry of Education and Science, Seventh Framework Programme, European Rare Kidney Disease Reference Network

المصدر: Kidney International Reports ; volume 9, issue 4, page 973-981 ; ISSN 2468-0249

الاتاحة: http://dx.doi.org/10.1016/j.ekir.2024.01.005
https://api.elsevier.com/content/article/PII:S2468024924000056?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2468024924000056?httpAccept=text/plain

المؤلفون: Saei, Hassan, Boisson, Marie, Arrondel, Christelle, Estebe, Bruno, Cagnard, Nicolas, Bras, Marc, Morinière, Vincent, Arkoub, Zaïna Aït, Heidet, Laurence, Gribouval, Olivier, Nitschké, Patrick, Antignac, Corinne, Mollet, Géraldine, Dorval, Guillaume

المصدر: Genetics in Medicine Open ; volume 2, page 101032 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101032
https://api.elsevier.com/content/article/PII:S294977442400178X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S294977442400178X?httpAccept=text/plain

المؤلفون: Saei, Hassan, Kachmar, Jessica, Morinière, Vincent, Heidet, Laurence, Gribouval, Olivier, Lebbah, Said, Tores, Frederic, Mautret-Godefroy, Manon, Knebelmann, Bertrand, Burtey, Stéphane, Vuiblet, Vincent, Antignac, Corinne, Nitschké, Patrick, Dorval, Guillaume

المصدر: Genetics in Medicine Open ; volume 2, page 101065 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101065
https://api.elsevier.com/content/article/PII:S2949774424002115?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424002115?httpAccept=text/plain

المؤلفون: Saei, Hassan, Morinière, Vincent, Heidet, Laurence, Gribouval, Olivier, Lebbah, Said, Tores, Frederic, Mautret-Godefroy, Manon, Knebelmann, Bertrand, Burtey, Stéphane, Vuiblet, Vincent, Antignac, Corinne, Nitschké, Patrick, Dorval, Guillaume

المساهمون: CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010)

المصدر: EISSN: 2589-0042 ; iScience ; https://hal.sorbonne-universite.fr/hal-04268667 ; iScience, 2023, 26 (7), pp.107171. ⟨10.1016/j.isci.2023.107171⟩

مصطلحات موضوعية: Genetics, Genomics, Techniques in genetics, Genotyping, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/37456840; PUBMED: 37456840; WOS: 001058771800001

الاتاحة: https://hal.sorbonne-universite.fr/hal-04268667
https://hal.sorbonne-universite.fr/hal-04268667v1/document
https://hal.sorbonne-universite.fr/hal-04268667v1/file/1-s2.0-S2589004223012488-main.pdf
https://doi.org/10.1016/j.isci.2023.107171

المؤلفون: Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, Saunier, Sophie, INSERM–Necker Hospital NPH collaborative group

المصدر: Petzold, Friederike; Billot, Katy; Chen, Xiaoyi; Henry, Charline; Filhol, Emilie; Martin, Yoann; Avramescu, Marina; Douillet, Maxime; Morinière, Vincent; Krug, Pauline; Jeanpierre, Cécile; Tory, Kalman; Boyer, Olivia; Burgun, Anita; Servais, Aude; Salomon, Remi; Benmerah, Alexandre; Heidet, Laurence; Garcelon, Nicolas; Antignac, Corinne; Zaidan, Mohamad; Saunier, Sophie; INSERM–Necker Hospital NPH collaborative group (2023). The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. Kidney International, 104(2):378-387.

مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/237443/1/1_s2.0_S0085253823003770_main.pdf; info:pmid/37230223; urn:issn:0085-2538

الاتاحة: https://www.zora.uzh.ch/id/eprint/237443/
https://www.zora.uzh.ch/id/eprint/237443/1/1_s2.0_S0085253823003770_main.pdf
https://doi.org/10.1016/j.kint.2023.05.007

المؤلفون: Boisson, Marie, Arrondel, Christelle, Cagnard, Nicolas, Morinière, Vincent, Arkoub, Zaïna Aït, Saei, Hassan, Heidet, Laurence, Kachmar, Jessica, Hummel, Aurélie, Knebelmann, Bertrand, Bonnet-Dupeyron, Marie-Noëlle, Isidor, Bertrand, Izzedine, Hassane, Legrand, Eric, Couarch, Philippe, Gribouval, Olivier, Bole-Feysot, Christine, Parisot, Mélanie, Nitschké, Patrick, Antignac, Corinne, Dorval, Guillaume

المساهمون: Agence Nationale de la Recherche

المصدر: Kidney International ; volume 104, issue 2, page 367-377 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1016/j.kint.2023.05.006
https://api.elsevier.com/content/article/PII:S0085253823003769?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253823003769?httpAccept=text/plain

المؤلفون: Saei, Hassan, Masson, Cécile, Morinière, Vincent, Kachmar, Jessica, Heidet, Laurence, Gribouval, Olivier, Antignac, Corinne, Dorval, Guillaume

المصدر: Journal of the American Society of Nephrology ; ISSN 1046-6673 1533-3450

الاتاحة: https://doi.org/10.1681/asn.0000000574
https://journals.lww.com/10.1681/ASN.0000000574

المؤلفون: Dorval, Guillaume, Le Gac, Gérald, Morinière, Vincent, Ka, Chandran, Goursaud, Claire, Knebelmann, Bertrand, Marijon, Pierre, Nambot, Sophie, Cagnard, Nicolas, Nitschké, Patrick, Michel-Calemard, Laurence, Audrézet, Marie-Pierre, Heidet, Laurence

المساهمون: Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)

المصدر: ISSN: 0085-2538.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04668645
https://doi.org/10.1016/j.kint.2024.05.029

المؤلفون: Kachmar, Jessica, Saei, Hassan, Morinière, Vincent, Heidet, Laurence, Gribouval, Olivier, Mautret-Godefroy, Manon, Knebelmann, Bertrand, Burtey, Stéphane, Vuiblet, Vincent, Nitschké, Patrick, Antignac, Corinne, Dorval, Guillaume

المصدر: Nephrology Dialysis Transplantation ; volume 39, issue Supplement_1 ; ISSN 0931-0509 1460-2385

الاتاحة: http://dx.doi.org/10.1093/ndt/gfae069.226
https://academic.oup.com/ndt/article-pdf/39/Supplement_1/gfae069-0226-382/57789924/gfae069-0226-382.pdf

المؤلفون: Saei, Hassan, Morinière, Vincent, Heidet, Laurence, Knebelmann, Bertrand, Nitschke, Patrick, Antignac, Corinne, Dorval, Guillaume

المصدر: Nephrology Dialysis Transplantation ; volume 39, issue Supplement_1 ; ISSN 0931-0509 1460-2385

الاتاحة: http://dx.doi.org/10.1093/ndt/gfae069.129
https://academic.oup.com/ndt/article-pdf/39/Supplement_1/gfae069-0129-2606/57791681/gfae069-0129-2606.pdf

المؤلفون: Jordan, Penelope, Arrondel, Christelle, Bessières, Bettina, Tessier, Aude, Attié-Bitach, Tania, Guterman, Sarah, Morinière, Vincent, Antignac, Corinne, Saunier, Sophie, Gubler, Marie-Claire, Heidet, Laurence

المصدر: Kidney International ; volume 99, issue 2, page 405-409 ; ISSN 0085-2538

الاتاحة: http://dx.doi.org/10.1016/j.kint.2020.09.029
https://api.elsevier.com/content/article/PII:S0085253820312382?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0085253820312382?httpAccept=text/plain

المؤلفون: Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaudé, Laure, Tête, Marie Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, MacHe, Christoph J., Schäfer, Tobias, Pape, Lars, Gödel, Markus, Huber, Tobias B., Benz, Marcus, Klaus, Günter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Morinière, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschké, Patrick, Ahluwalia, Tarunveer S., Köttgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, Simons, Matias

المصدر: Bedin , M , Boyer , O , Servais , A , Li , Y , Villoing-Gaudé , L , Tête , M J , Cambier , A , Hogan , J , Baudouin , V , Krid , S , Bensman , A , Lammens , F , Louillet , F , Ranchin , B , Vigneau , C , Bouteau , I , Isnard-Bagnis , C , MacHe , C J , Schäfer , T , Pape , L , Gödel , M , Huber , T B , Benz , M , Klaus , G , ....

الاتاحة: https://pure.au.dk/portal/en/publications/688b8fdd-e991-4adf-b0a8-d1b655359179
https://doi.org/10.1172/JCI129937
http://www.scopus.com/inward/record.url?scp=85076232470&partnerID=8YFLogxK
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934218/pdf/jci-130-129937.pdf

المؤلفون: Laliève, Fanny, Decramer, Stéphane, Heidet, Laurence, Baudouin, Véronique, Lahoche, Annie, Llanas, Brigitte, Cochat, Pierre, Tenenbaum, Julie, Lavocat, Marie-Pierre, Eckart, Philippe, Broux, Françoise, Roussey, Gwenaelle, Cloarec, Sylvie, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Tsimaratos, Michel, Nobili, François, Pietrement, Christine, De Parscau, Loïc, Bonneville, Valérie, Rodier, Nicolas, Saint-Martin, Cécile, Chassaing, Nicolas, Michel-Calemard, Laurence, Moriniere, Vincent, Bellanné-Chantelot, Christine, Bahans, Claire, Guigonis, Vincent

المصدر: European Journal of Human Genetics ; volume 28, issue 1, page 56-63 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-019-0490-6
http://www.nature.com/articles/s41431-019-0490-6.pdf
http://www.nature.com/articles/s41431-019-0490-6

المؤلفون: Bérody, Sandra, Heidet, Laurence, Gribouval, Olivier, Harambat, Jérome, Niaudet, Patrick, Baudouin, Veronique, Bacchetta, Justine, Boudaillez, Bernard, Dehennault, Maud, de Parscau, Loïc, Dunand, Olivier, Flodrops, Hugues, Fila, Marc, Garnier, Arnaud, Louillet, Ferielle, Macher, Marie-Alice, May, Adrien, Merieau, Elodie, Monceaux, Françoise, Pietrement, Christine, Rousset-Rouvière, Caroline, Roussey, Gwenaëlle, Taque, Sophie, Tenenbaum, Julie, Ulinski, Tim, Vieux, Rachel, Zaloszyc, Ariane, Morinière, Vincent, Salomon, Rémi, Boyer, Olivia

المصدر: Nephrology Dialysis Transplantation ; volume 34, issue 3, page 458-467 ; ISSN 0931-0509 1460-2385

الاتاحة: https://doi.org/10.1093/ndt/gfy015
http://academic.oup.com/ndt/article-pdf/34/3/458/27989185/gfy015.pdf

المؤلفون: Heidet, Laurence, Morinière, Vincent, Henry, Charline, De Tomasi, Lara, Reilly, Madeline Louise, Humbert, Camille, Alibeu, Olivier, Fourrage, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Tores, Frédéric, Bras, Marc, Jeanpierre, Marc, Pietrement, Christine, Gaillard, Dominique, Gonzales, Marie, Novo, Robert, Schaefer, Elise, Roume, Joëlle, Martinovic, Jelena, Malan, Valérie, Salomon, Rémi, Saunier, Sophie, Antignac, Corinne, Jeanpierre, Cécile

المصدر: Journal of the American Society of Nephrology ; volume 28, issue 10, page 2901-2914 ; ISSN 1046-6673 1533-3450

الاتاحة: http://dx.doi.org/10.1681/asn.2017010043
https://journals.lww.com/00001751-201710000-00013

المؤلفون: Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel-Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie-Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute-Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)

المصدر: ISSN: 1059-7794.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-03706756
https://doi.org/10.1002/humu.24324

المؤلفون: Gómez‐Conde, Sara, Dunand, Olivier, Hummel, Aurélie, Morinière, Vincent, Gauthier, Marion, Mesnard, Laurent, Heidet, Laurence

المساهمون: Eusko Jaurlaritza, Biocruces Bizkaia Health Research Institute

المصدر: Clinical Genetics ; volume 103, issue 1, page 114-118 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14229
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14229
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/cge.14229

المؤلفون: Audrézet, Marie-Pierre, Corbiere, Christine, Lebbah, Said, Morinière, Vincent, Broux, Françoise, Louillet, Ferielle, Fischbach, Michel, Zaloszyc, Ariane, Cloarec, Sylvie, Merieau, Elodie, Baudouin, Véronique, Deschênes, Georges, Roussey, Gwenaelle, Maestri, Sandrine, Visconti, Chiara, Boyer, Olivia, Abel, Carine, Lahoche, Annie, Randrianaivo, Hanitra, Bessenay, Lucie, Mekahli, Djalila, Ouertani, Ines, Decramer, Stéphane, Ryckenwaert, Amélie, Cornec-Le Gall, Emilie, Salomon, Rémi, Ferec, Claude, Heidet, Laurence

المصدر: Journal of the American Society of Nephrology ; volume 27, issue 3, page 722-729 ; ISSN 1046-6673

الاتاحة: http://dx.doi.org/10.1681/asn.2014101051
https://journals.lww.com/00001751-201603000-00012

المؤلفون: Gómez‐Conde, Sara, Dunand, Olivier, Hummel, Aurélie, Morinière, Vincent, Gauthier, Marion, Mesnard, Laurent, Heidet, Laurence

المصدر: Clinical Genetics; Jan2023, Vol. 103 Issue 1, p114-118, 5p

مصطلحات موضوعية: ETIOLOGY of diseases, DISEASE progression, KIDNEY diseases, SARCOIDOSIS, CHRONIC kidney failure, KIDNEY development, AGENESIS of corpus callosum

المؤلفون: Dorval, Guillaume, Jeanpierre, Cécile, Morinière, Vincent, Tournant, Carole, Bessières, Bettina, Attié-Bittach, Tania, Amiel, Jeanne, Spaggari, Emmanuel, Ville, Yves, Merieau, Elodie, Gubler, Marie-Claire, Saunier, Sophie, Heidet, Laurence

المساهمون: Agence Nationale de la Recherche

المصدر: Pediatric Nephrology ; ISSN 0931-041X 1432-198X

الاتاحة: http://dx.doi.org/10.1007/s00467-021-04953-9
http://link.springer.com/content/pdf/10.1007/s00467-021-04953-9.pdf
http://link.springer.com/article/10.1007/s00467-021-04953-9/fulltext.html