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Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy
Verdura, Edgard, Hervé, Dominique, Bergametti, Françoise, Jacquet, Clémence, Morvan, Typhaine, Prieto-Morin, Carol, Mackowiak, Alexandre, Manchon, Eric, Hosseini, Hassan, Cordonnier, Charlotte, Girard-Buttaz, Isabelle, Rosenstingl, Sophie, Hagel, Christian, Kuhlenbaümer, Gregor, Leca-Radu, Elena, Goux, Didier, Fleming, Lauren, Van Agtmael, Tom, Chabriat, Hugues, Chapon, Françoise, Tournier-Lasserve, Elisabeth
Published in Annals of neurology (01.11.2016)
Published in Annals of neurology (01.11.2016)
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Journal Article
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers
Tosco‐Herrera, Eva, Muñoz‐Barrera, Adrián, Jáspez, David, Rubio‐Rodríguez, Luis A., Mendoza‐Alvarez, Alejandro, Rodriguez‐Perez, Hector, Jou, Jonathan, Iñigo‐Campos, Antonio, Corrales, Almudena, Ciuffreda, Laura, Martinez‐Bugallo, Francisco, Prieto‐Morin, Carol, García‐Olivares, Víctor, González‐Montelongo, Rafaela, Lorenzo‐Salazar, Jose Miguel, Marcelino‐Rodriguez, Itahisa, Flores, Carlos
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
Further refinement of COL4A1 and COL4A2 related cortical malformations
Cavallin, Mara, Mine, Manuele, Philbert, Marion, Boddaert, Nathalie, Lepage, Jean Marie, Coste, Thibault, Lopez-Gonzalez, Vanessa, Sanchez-Soler, Maria Jose, Ballesta-Martínez, Maria Juliana, Remerand, Ganaëlle, Pasquier, Laurent, Guët, Agnès, Chelly, Jamel, Lascelles, Karine, Prieto-Morin, Carol, Kossorotoff, Manoelle, Tournier Lasserve, Elisabeth, Bahi-Buisson, Nadia
Published in European journal of medical genetics (01.12.2018)
Published in European journal of medical genetics (01.12.2018)
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Journal Article
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease
Verdura, Edgard, Hervé, Dominique, Scharrer, Eva, Amador, Maria del Mar, Guyant-Maréchal, Lucie, Philippi, Anne, Corlobé, Astrid, Bergametti, Françoise, Gazal, Steven, Prieto-Morin, Carol, Beaufort, Nathalie, Le Bail, Benoit, Viakhireva, Irina, Dichgans, Martin, Chabriat, Hugues, Haffner, Christof, Tournier-Lasserve, Elisabeth
Published in Brain (London, England : 1878) (01.08.2015)
Published in Brain (London, England : 1878) (01.08.2015)
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Journal Article
CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis
Prieto-Morin, Carol, Ayrignac, Xavier, Ellie, Emmanuel, Tournier-Lasserve, Elisabeth, Labauge, Pierre
Published in Journal of neurology (01.09.2016)
Published in Journal of neurology (01.09.2016)
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Journal Article
Abstract PO1-08-06: Clinical-molecular correlation in breast cancer with pathogenic variants in CHEK2. Is there a relationship with HER2+ breast cancer?
Pérez-Rodríguez, Natalia, Prieto-Morin, Carol, Maeso, Maria del Carmen, Pérez-Mendez, Lina
Published in Cancer research (Chicago, Ill.) (02.05.2024)
Published in Cancer research (Chicago, Ill.) (02.05.2024)
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Journal Article
A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway
Martín-Núñez, Ernesto, Donate-Correa, Javier, Kannengiesser, Caroline, De Brauwere, David-Paul, Leroy, Christine, Oudin, Claire, Friedlander, Gérard, Prieto-Morín, Carol, Tagua, Víctor G., Ureña-Torres, Pablo A., Navarro-González, Juan F.
Published in Journal of clinical medicine (12.04.2019)
Published in Journal of clinical medicine (12.04.2019)
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Journal Article
PDGFB Partial Deletion: a New, Rare Mechanism Causing Brain Calcification with Leukoencephalopathy
Nicolas, Gaël, Rovelet-Lecrux, Anne, Pottier, Cyril, Martinaud, Olivier, Wallon, David, Vernier, Louis, Landemore, Gérard, Chapon, Françoise, Prieto-Morin, Carol, Tournier-Lasserve, Elisabeth, Frébourg, Thierry, Campion, Dominique, Hannequin, Didier
Published in Journal of molecular neuroscience (01.06.2014)
Published in Journal of molecular neuroscience (01.06.2014)
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Journal Article
Disruption of a mi R ‐29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy
Verdura, Edgard, Hervé, Dominique, Bergametti, Françoise, Jacquet, Clémence, Morvan, Typhaine, Prieto‐Morin, Carol, Mackowiak, Alexandre, Manchon, Eric, Hosseini, Hassan, Cordonnier, Charlotte, Girard‐Buttaz, Isabelle, Rosenstingl, Sophie, Hagel, Christian, Kuhlenbaümer, Gregor, Leca‐Radu, Elena, Goux, Didier, Fleming, Lauren, Van Agtmael, Tom, Chabriat, Hugues, Chapon, Françoise, Tournier‐Lasserve, Elisabeth
Published in Annals of neurology (01.11.2016)
Published in Annals of neurology (01.11.2016)
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Journal Article
The A209= Synonymous CFTR Variant Conceals Deep Intronic Variant: Disclosing its Phenotypic Spectrum
Martinez Bugallo, Francisco, García de la Rosa, Gema, Prieto-Morín, Carol, Mesa-Medina, Orlando, Callejón-Callejón, Alicia
Published in Archivos de bronconeumología (English ed.) (02.04.2025)
Published in Archivos de bronconeumología (English ed.) (02.04.2025)
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Journal Article
P1008THERAPY WITH SODIUM-GLUCOSE COTRANSPORTER TYPE 2 INHIBITORS INCREASES KLOTHO IN TYPE 2 DIABETIC PATIENTS
Navarro-González, Juan, Ferri, Carla, Martín-Núñez, Ernesto, Donate-Correa, Javier, Pérez-Delgado, Nayra, Hernández-Carballo, Carolina, Sánchez-Quintana, Fátima, Tagua, Víctor G, Prieto-Morín, Carol, Mora-Fernández, Carmen
Published in Nephrology, dialysis, transplantation (01.06.2020)
Published in Nephrology, dialysis, transplantation (01.06.2020)
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Journal Article