Thésaurismoses adultes et pédiatriques : maladies de surcharge lysosomale, surcharges lipidiques et glycogénoses

Alternate Title: Adult and pediatric thesaurismosis: Lysosomal, lipid and glycogen storage diseases (English)

Authors: Collardeau-Frachon, Sophie

Source: In Annales de Pathologie November 2024 44(6):432-452

Anti-PD1-/PDL1-induced chronic intestinal pseudo-obstruction: three cases treated with vedolizumab after corticosteroid failure with mixed results.

Authors: Zenatri, Morgan, Collins, Michael, Alberto, Tifanie, Farina, Antonio, Collardeau-Frachon, Sophie, Saint-Jean, Mélanie, Bocquet, François, Dumont, Frederic, Honnorat, Jérôme, Joubert, Bastien, Raimbourg, Judith

Source: Cancer Immunology, Immunotherapy; Feb2025, Vol. 74 Issue 2, p1-7, 7p

Subject Terms: DRUG side effects, INFLAMMATORY bowel diseases, MEDICAL sciences, IMMUNE checkpoint inhibitors, IMMUNOSUPPRESSIVE agents

Placental Tissue Destruction and Insufficiency From COVID-19 Causes Stillbirth and Neonatal Death From Hypoxic-Ischemic Injury: A Study of 68 Cases With SARS-CoV-2 Placentitis From 12 Cou

Authors: Schwartz, David A., Avvad-Portari, Elyzabeth, Babál, Pavel, Baldewijns, Marcella, Blomberg, Marie, Bouachba, Amine, Camacho, Jessica, Collardeau-Frachon, Sophie, Colson, Arthur, Dehaene, Isabelle

Source: Archives of pathology & laboratory medicine. 146(6):660-676

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Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Authors: Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P., Filges, Isabel, Sparks, Teresa N., Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C., Collardeau‐Frachon, Sophie, Dempsey, Esther A., Dufke, Andreas, Duyzend, Michael Henri, Ghosh, Mirna, Giordano, Jessica L., Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G., Ladewig, Markus S., Munoz‐Torres, Monica C., Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A., Wapner, Ronald J., Zemet, Roni, Haendel, Melissa A, Robinson, Peter N.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 190(2):231-242

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163145974.0x000001&indx=1&recIds=ETOCvdc_100163145974.0x000001

Liver transplantation of partial grafts after ex situ splitting during hypothermic oxygenated perfusion—The HOPE–Split pilot study

Authors: Rossignol, Guillaume, Muller, Xavier, Hervieu, Valérie, Collardeau‐Frachon, Sophie, Breton, Antoine, Boulanger, Natacha, Lesurtel, Mickaël, Dubois, Rémi, Mohkam, Kayvan, Mabrut, Jean‐Yves

Source: Liver transplantation. 28(10):1576-1587

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161055674.0x000001&indx=1&recIds=ETOCvdc_100161055674.0x000001

Placental lesions and SARS-Cov-2 infection: Diffuse placenta damage associated to poor fetal outcome

Authors: Bouachba, Amine, Allias, Fabienne, Nadaud, Beatrice, Massardier, Jerome, Mekki, Yahia, Bouscambert Duchamp, Maude, Fourniere, Benoit De LA., Huissoud, Cyril, Trecourt, Alexis, Collardeau-Frachon, Sophie

Source: In Placenta 1 September 2021 112:97-104

Hepatocyte proteomes reveal the role of protein disulfide isomerase 4 in alpha 1-antitrypsin deficiency

Authors: Karatas, Esra, Raymond, Anne-Aurélie, Leon, Céline, Dupuy, Jean-William, Di-Tommaso, Sylvaine, Senant, Nathalie, Collardeau-Frachon, Sophie, Ruiz, Mathias, Lachaux, Alain, Saltel, Frédéric, Bouchecareilh, Marion

Source: In JHEP Reports August 2021 3(4)

Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease

Authors: Allegaert, Karel, Aubard, Yves, Basmaison, Odile, Benevent, Jean-Baptiste, Biquard, Florence, Champion, Gérard, Delbosc, Jean-Marie, Eckart, Philippe, Froute, Marie-Françoise, Gaucherand, Pascal, Groussolles, Marion, Guigonis, Vincent, Hougas, Blandine, Le Bouar, Gwenaelle, Martin, Alain, Martin, Sophie, Maupin-Hyvonnet, Mariannick, Merveille, Marina, Mousty, Eve, Nobili, François, Ryckewaert, Amelie, Sartor, Agnes, Taque, Sophie, Winer, Norbert, Klein, Julie, Buffin-Meyer, Bénédicte, Boizard, Franck, Moussaoui, Nabila, Lescat, Ophélie, Breuil, Benjamin, Fedou, Camille, Feuillet, Guylène, Casemayou, Audrey, Neau, Eric, Hindryckx, An, Decatte, Luc, Levtchenko, Elena, Raaijmakers, Anke, Vayssière, Christophe, Goua, Valérie, Lucas, Charlotte, Perrotin, Franck, Cloarec, Sylvie, Benachi, Alexandra, Manca-Pellissier, Marie-Christine, Delmas, Hélène Laurichesse, Bessenay, Lucie, Le Vaillant, Claudine, Allain-Launay, Emma, Gondry, Jean, Boudailliez, Bernard, Simon, Elisabeth, Prieur, Fabienne, Lavocat, Marie-Pierre, Saliou, Anne-Hélène, De Parscau, Loic, Bidat, Laurent, Noel, Catherine, Floch, Corinne, Bourdat-Michel, Guylène, Favre, Romain, Weingertner, Anne-Sophie, Oury, Jean-François, Baudouin, Véronique, Bory, Jean-Paul, Pietrement, Christine, Fiorenza, Maryse, Massardier, Jérôme, Kessler, Sylvie, Lounis, Nadia, Auriol, Françoise Conte, Marcorelles, Pascale, Collardeau-Frachon, Sophie, Zürbig, Petra, Mischak, Harald, Magalhães, Pedro, Batut, Julie, Blader, Patrick, Saulnier Blache, Jean-Sebastien, Bascands, Jean-Loup, Schaefer, Franz, Decramer, Stéphane, Schanstra, Joost P.

Source: In Kidney International March 2021 99(3):737-749

Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease

Authors: Klein, Julie, Buffin-Meyer, Bénédicte, Boizard, Franck, Moussaoui, Nabila, Lescat, Ophélie, Breuil, Benjamin, Fedou, Camille, Feuillet, Guylène, Casemayou, Audrey, Neau, Eric, Hindryckx, An, Decatte, Luc, Levtchenko, Elena, Raaijmakers, Anke, Vayssière, Christophe, Goua, Valérie, Lucas, Charlotte, Perrotin, Franck, Cloarec, Sylvie, Benachi, Alexandra, Manca-Pellissier, Marie-Christine, Delmas, Hélène Laurichesse, Bessenay, Lucie, Le Vaillant, Claudine, Allain-Launay, Emma, Gondry, Jean, Boudailliez, Bernard, Simon, Elisabeth, Prieur, Fabienne, Lavocat, Marie-Pierre, Saliou, Anne-Hélène, De Parscau, Loic, Bidat, Laurent, Noel, Catherine, Floch, Corinne, Bourdat-Michel, Guylène, Favre, Romain, Weingertner, Anne-Sophie, Oury, Jean-François, Baudouin, Véronique, Bory, Jean-Paul, Pietrement, Christine, Fiorenza, Maryse, Massardier, Jérôme, Kessler, Sylvie, Lounis, Nadia, Auriol, Françoise Conte, Marcorelles, Pascale, Collardeau-Frachon, Sophie, Zürbig, Petra, Mischak, Harald, Magalhães, Pedro, Batut, Julie, Blader, Patrick, Saulnier Blache, Jean-Sebastien, Bascands, Jean-Loup, Schaefer, Franz, Decramer, Stéphane, Schanstra, Joost P.

Source: Kidney international. 99(3):737-749

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136429000.0x000001&indx=1&recIds=ETOCvdc_100136429000.0x000001

Lipids Responsible for Intestinal or Hepatic Disorder

Authors: Sissaoui, Samira, Cochet, Manon, Poinsot, Pierre, Bordat, Claire, Collardeau-Frachon, Sophie, Lachaux, Alain, Lacaille, Florence, Peretti, Noël

Source: Journal of pediatric gastroenterology and nutrition. 73(1):4-8

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121675650.0x000001&indx=1&recIds=ETOCvdc_100121675650.0x000001

Children with eosinophilic esophagitis in real life: 10 years’ experience with a focus on allergic management

Authors: Azzano, Pauline ^*, Villard Truc, Florence, Collardeau-Frachon, Sophie, Lachaux, Alain

Source: In Allergologia et Immunopathologia May-June 2020 48(3):244-250

Are protocol graft biopsies after pediatric liver transplantation useful? Experience in a single center over 20 years

Authors: Wischlen, Emma, Boillot, Olivier, Rivet, Christine, Lachaux, Alain, Bouvier, Raymonde, Hervieu, Valérie, Scoazec, Jean‐Yves, Collardeau‐Frachon, Sophie, Dumortier, Jérôme, Laverdure, Noémie

Source: Clinical transplantation. 37(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173635217.0x000001&indx=1&recIds=ETOCvdc_100173635217.0x000001

Normal serum ApoB48 and red cells vitamin E concentrations after supplementation in a novel compound heterozygous case of abetalipoproteinemia

Authors: Di Filippo, Mathilde, Collardeau Frachon, Sophie, Janin, Alexandre, Rajan, Sujith, Marmontel, Oriane, Decourt, Charlotte, Rubio, Amandine, Nony, Séverine, Dumont, Sabrina, Cuerq, Charlotte, Charrière, Sybil, Moulin, Philippe, Lachaux, Alain, Hussain, M. Mahmood, Bozon, Dominique, Peretti, Noël

Source: In Atherosclerosis May 2019 284:75-82

Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.

Authors: Gazeu, Alexia, Collardeau-Frachon, Sophie

Source: Pediatric & Developmental Pathology; Sep/Oct2024, Vol. 27 Issue 5, p459-493, 35p

Subject Terms: INBORN errors of metabolism, CONGENITAL disorders, URINARY organs, GENETIC counseling, HUMAN abnormalities, DYSPLASIA

Prenatal imaging features suggestive of liver gestational allo immune disease

Authors: Sciard, Clémentine, Collardeau-Frachon, Sophie, Atallah, Anthony, Combourieu, Danièle, Massardier, Jérôme, Heissat, Sophie, Gaucherand, Pascal, Guibaud, Laurent, Massoud, Mona

Source: In Journal of Gynecology Obstetrics and Human Reproduction January 2019 48(1):61-64

Assisted Reproductive Technologies and imprinting disorders: Results of a study from a French congenital malformations registry

Authors: Uk, Audrey, Collardeau-Frachon, Sophie, Scanvion, Quentin, Michon, Lucas, Amar, Emmanuelle

Source: In European Journal of Medical Genetics September 2018 61(9):518-523

The protein kinase PERK/EIF2AK3 regulates proinsulin processing not via protein synthesis but by controlling endoplasmic reticulum chaperones

Authors: Sowers, Carrie R., Wang, Rong, Bourne, Rebecca A., McGrath, Barbara C., Hu, Jingjie, Bevilacqua, Sarah C., Paton, James C., Paton, Adrienne W., Collardeau-Frachon, Sophie, Nicolino, Marc, Cavener, Douglas R.

Source: In Journal of Biological Chemistry 6 April 2018 293(14):5134-5149

Pulmonary Infantile Hemangioma Mimicking a Congenital Cystic Adenomatoid Malformation

Authors: Dauge, Coralie, Fenouil, Tanguy, Petit, Thierry, Jeanne-Pasquier, Corinne, Collardeau-Frachon, Sophie

Source: Pediatric and developmental pathology. 22(5):480-485

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Escherichia coli-associated hemolytic uremic syndrome and severe chronic hepatocellular cholestasis: complication or side effect of eculizumab?

Authors: Mauras, Mathilde, Bacchetta, Justine, Duncan, Anita, Lavocat, Marie-Pierre, Rohmer, Barbara, Javouhey, Etienne, Collardeau-Frachon, Sophie, Sellier-Leclerc, Anne-Laure

Source: Pediatric nephrology. 34(7):1289-1293

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125313240.0x000001&indx=1&recIds=ETOCvdc_100125313240.0x000001

Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis

Authors: Finn, Laura S, Gazeu, Alexia, Collardeau-Frachon, Sophie

Source: Pediatric and Developmental Pathology; September 2024, Vol. 27 Issue: 5 p459-493, 35p