Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases

por MAZEREEUW-HAUTIER, Juliette, BOURRAT, Emmanuelle, TOURNIER, Emilie, BATTISTELLA, Maxime, BERNABEU-WITTEL, José, BARBAROT, Sébastien, HERNANDEZ-MARTIN, Angela
Publicado 2021

Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation

por Reolid, Alejandra, Carrasco, Loreto, Noguera-Morel, Lucero, Torrelo, Antonio, Colmenero, Isdabel, Ortiz-Cabrera, Nelmar Valentina, Hernández-Martin, Ángela
Publicado 2019

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

por González-Tarancón, Ricardo, Goñi-Ros, Nuria, Salvador-Rupérez, Elvira, Hernández-Martín, Ángela, Izquierdo-Álvarez, Silvia, Puzo-Foncillas, José, Gilaberte-Calzada, Yolanda
Publicado 2023

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

por Cuadrado-Corrales, Natividad, Sánchez-Jimeno, Carolina, García, Marta, Escámez, María-José, Illera, Nuria, Hernández-Martín, Ángela, Trujillo-Tiebas, María-José, Ayuso, Carmen, Del Rio, Marcela
Publicado 2010

Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders

por Davila-Seijo, Paula, Hernández-Martín, Angela, Morcillo-Makow, Evanina, Lucas, Raúl de, Domínguez, Esther, Romero, Natividad, Monrós, Eva, Feito, Marta, Carretero, Luis, Aranegui, Bea, García-Doval, Ignacio
Publicado 2013

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma

por González-Quintana, Adrián, Garrido-Moraga, Rocío, Palencia-Pérez, Sara I., Hernández-Martín, Ángela, Sánchez-Munárriz, Jon, Lezana-Rosales, José M., Quesada-Espinosa, Juan F., Martín, Miguel A., Arteche-López, Ana
Publicado 2023

Mucocutaneous manifestations in children hospitalized with COVID-19

por Andina-Martinez, David, Nieto-Moro, Montserrat, Alonso-Cadenas, Jose Antonio, Añon-Hidalgo, Juan, Hernandez-Martin, Angela, Perez-Suarez, Esther, Colmenero-Blanco, Isabel, Iglesias-Bouza, Maria Isabel, Cano-Fernandez, Julia, Mateos-Mayo, Ana, Torrelo, Antonio
Publicado 2021

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

por El Hachem, May, Zambruno, Giovanna, Bourdon-Lanoy, Eva, Ciasulli, Annalisa, Buisson, Christiane, Hadj-Rabia, Smail, Diociaiuti, Andrea, Gouveia, Carolina F, Hernández-Martín, Angela, de Lucas Laguna, Raul, Dolenc-Voljč, Mateja, Tadini, Gianluca, Salvatori, Guglielmo, De Ranieri, Cristiana, Leclerc-Mercier, Stephanie, Bodemer, Christine
Publicado 2014

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

por Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette, Tantcheva-Poor, Iliana, Hellström Pigg, Maritta, Has, Cristina, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Süßmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders, Fischer, Judith
Publicado 2021