Works matching AU Ballesta‐Martínez, María Juliana

Results: 12

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.

Published in:

2019

By:

Martínez-Romero, María Carmen;
Ballesta-Martínez, María Juliana;
López-González, Vanesa;
Sánchez-Soler, María José;
Serrano-Antón, Ana Teresa;
Barreda-Sánchez, María;
Rodriguez-Peña, Lidya;
Martínez-Menchon, María Teresa;
Frías-Iniesta, José;
Sánchez-Pedreño, Paloma;
Carbonell-Meseguer, Pablo;
Glover-López, Guillermo;
Guillén-Navarro, Encarna;
GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia);
Alcalá-García, Rebeca;
Barcia-Ramírez, Ana;
Cruz-Rojo, Jaime;
Gener-Querol, Blanca;
Hernández-Martín, Angela;
Lapunzina-Badía, Pablo

Publication type:

journal article

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 646, doi. 10.1111/cge.14701

By:

Trujillano, Laura;
Valenzuela, Irene;
Costa‐Roger, Mar;
Cuscó, Ivon;
Fernandez‐Alvarez, Paula;
Cueto‐González, Anna;
Lasa‐Aranzasti, Amaia;
Masotto, Bárbara;
Abulí, Anna;
Codina‐Solà, Marta;
del Campo, Miguel;
Ruiz Moreno, Juan Antonio;
Pardo Domínguez, Cristina;
Palma Milla, Carmen;
Pérez de la Fuente, Rubén;
Quesada‐Espinosa, Juan Francisco;
Núñez‐Enamorado, Noemí;
Gener, Blanca;
Ballesta‐Martínez, María Juliana;
Brea‐Fernández, Alejandro J.

Publication type:

Article

Identification of copy‐number variants in patients with overgrowth disorders.

Published in:

Clinical Genetics, 2024, v. 106, n. 5, p. 614, doi. 10.1111/cge.14596

By:

Parra, Alejandro;
Tenorio‐Castano, Jair;
Nevado, Julián;
Cazalla, Mario;
Miranda‐Alcaraz, Lucía;
Gallego‐Zazo, Natalia;
Silván, Cristina;
Arias, Pedro;
Pozo‐Román, Jesús;
Ballesta‐Martínez, María Juliana;
Guillén‐Navarro, Encarna;
Arroyo, Ignacio;
Lotersztein, Vanesa;
Cosentino, Viviana;
González‐Meneses, Antonio;
Galán, Enrique;
Rosell, Jordi;
Ramos, Feliciano;
Plasencia, Antonio;
Rosa, Alberto L.

Publication type:

Article

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 7, p. 907, doi. 10.1038/ejhg.2014.205

By:

Paumard-Hernández, Beatriz;
Berges-Soria, Julia;
Barroso, Eva;
Rivera-Pedroza, Carlos I;
Pérez-Carrizosa, Virginia;
Benito-Sanz, Sara;
López-Messa, Eva;
Santos, Fernando;
García-Recuero, Ignacio I;
Romance, Ana;
Ballesta-Martínez, Juliana María;
López-González, Vanesa;
Campos-Barros, Ángel;
Cruz, Jaime;
Guillén-Navarro, Encarna;
Sánchez del Pozo, Jaime;
Lapunzina, Pablo;
García-Miñaur, Sixto;
Heath, Karen E

Publication type:

Article

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02809-z

By:

Ballesta-Martínez, María Juliana;
Pérez-Fernández, Virginia;
López-González, Vanesa;
Sánchez-Soler, María José;
Serrano-Antón, Ana Teresa;
Rodríguez-Peña, Lidia Isolina;
Barreda-Sánchez, Maria;
Armengol-Dulcet, Lluís;
Guillén-Navarro, Encarna

Publication type:

Article

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1743, doi. 10.3390/ijms24021743

By:

Amate-García, Guillermo;
Ballesta-Martínez, María Juliana;
Serrano-Lorenzo, Pablo;
Garrido-Moraga, Rocío;
González-Quintana, Adrián;
Blázquez, Alberto;
Rubio, Juan C.;
García-Consuegra, Inés;
Arenas, Joaquín;
Ugalde, Cristina;
Morán, María;
Guillén-Navarro, Encarnación;
Martín, Miguel A.

Publication type:

Article

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 902, doi. 10.1002/ajmg.a.36811

By:

Barroso, Eva;
Berges‐Soria, Julia;
Benito‐Sanz, Sara;
Rivera‐Pedroza, Carlos Ivan;
Ballesta‐Martínez, María Juliana;
López‐González, Vanesa;
Guillen‐Navarro, Encarna;
Heath, Karen E

Publication type:

Article

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1136, doi. 10.1002/ajmg.a.36409

By:

Guillén‐Navarro, Encarna;
Ballesta‐Martínez, María Juliana;
Valencia, María;
Bueno, Ana María;
Martinez‐Glez, Victor;
López‐González, Vanesa;
Burnyte, Birute;
Utkus, Algirdas;
Lapunzina, Pablo;
Ruiz‐Perez, Victor L.

Publication type:

Article

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.

Published in:

2019

By:

Barreda-Sánchez, María;
Buendía-Martínez, Juan;
Glover-López, Guillermo;
Carazo-Díaz, Carmen;
Ballesta-Martínez, María Juliana;
López-González, Vanesa;
Sánchez-Soler, María José;
Rodriguez-Peña, Lidya;
Serrano-Antón, Ana Teresa;
Gil-Ferrer, Remedios;
Martínez-Romero, Maria del Carmen;
Carbonell-Meseguer, Pablo;
Guillén-Navarro, Encarna

Publication type:

journal article

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum.

Published in:

Human Mutation, 2012, v. 33, n. 10, p. 1444, doi. 10.1002/humu.22133

By:

Puig-Hervás, Maria Trinidad;
Temtamy, Samia;
Aglan, Mona;
Valencia, Maria;
Martínez-Glez, Víctor;
Ballesta-Martínez, María Juliana;
López-González, Vanesa;
Ashour, Adel M.;
Amr, Khalda;
Pulido, Veronica;
Guillén-Navarro, Encarna;
Lapunzina, Pablo;
Caparrós-Martín, José A.;
Ruiz-Perez, Victor L.

Publication type:

Article

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.

Published in:

2021

By:

Quijada-Fraile, Pilar;
Arranz Canales, Elena;
Martín-Hernández, Elena;
Ballesta-Martínez, María Juliana;
Guillén-Navarro, Encarna;
Pintos-Morell, Guillem;
Moltó-Abad, Marc;
Moreno-Martínez, David;
García Morillo, Salvador;
Blasco-Alonso, Javier;
Couce, María Luz;
Gil Sánchez, Ricardo;
Cortès-Saladelafont, Elisenda;
López Rodríguez, Mónica A.;
García-Silva, María Teresa;
Morales Conejo, Montserrat

Publication type:

journal article

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.

Published in:

2021

By:

Buendía-Martínez, Juan;
Barreda-Sánchez, María;
Rodríguez-Peña, Lidya;
Ballesta-Martínez, María Juliana;
López-González, Vanesa;
Sánchez-Soler, María José;
Serrano-Antón, Ana Teresa;
Pérez-Tomás, María Elena;
Gil-Ferrer, Remedios;
Avilés-Plaza, Francisco;
Glover-López, Guillermo;
Carazo-Díaz, Carmen;
Guillén-Navarro, Encarna

Publication type:

journal article