Lucia Sentchordi-Montané (Lucía Sentchordi-Montané)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 5

Top Venues

European journal of endocrinology

Clinical genetics

Clinical endocrinology

Universidad Autonoma Barcelona (MSC)

This page only lists publications with an associated author ORCID identifier.

Education History

Universidad Autonoma Barcelona

Spain

MSC :: Pediatrics

Publications

Francisca Díaz-González, Lucia Sentchordi-Montané, Elsa Lucas-Castro, Silvia Modamio-HØybjØr, Karen E Heath
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects. European journal of endocrinology 191 (1) (2024)
Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro, Silvia Modamio-HØybjØr, Lucia Sentchordi-Montané, Verónica Seidel, Pablo Prieto, Guillermo Tarraso-Urios, Marta Codina-Sola, Anna Maria Cueto-González, Mary J Ballesta-Martínez, Fernando Santos-Simarro, Sergio B Sousa, Karen E Heath
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases. Clinical genetics (2023)
Lucia Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, Francisca Díaz-González, Silvia Modamio-HØybjØr, Carolina de la Torre, Julián Nevado, Pablo Ruiz-Ocaña, Carolina Bezanilla-López, Pablo Prieto, Pilar Bahíllo-Curieses, Atilano Carcavilla, Inés Mulero-Collantes, Ana C Barreda-Bonis, Jaime Cruz-Rojo, Joaquín Ramírez-Fernández, José Antonio Bermúdez de la Vega, Andre M Travessa, Jesús González de Buitrago Amigo, Ángela Del Pozo, Elena Vallespin, Mario Solís, Carlos Goetz, Ángel Campos-Barros, Fernando Santos-Simarro, Isabel González-Casado, Purificación Ros-Pérez, Manuel Parrón-Pajares, Karen E Heath
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. European journal of endocrinology 185 (5) (2021)
Lucia Sentchordi-Montané, Francisca Díaz-González, Elena V Cátedra-Vallés, Karen E Heath
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice. Clinical genetics 99 (2) (2020)
Lucia Sentchordi-Montané, Miriam Aza-Carmona, Sara Benito-Sanz, Ana C Barreda-Bonis, Consuelo Sánchez-Garre, Pablo Prieto-Matos, Pablo Ruiz-Ocaña, Alfonso Lechuga-Sancho, Atilano Carcavilla-Urquí, Inés Mulero-Collantes, Gabriel A Martos-Moreno, Angela Del Pozo, Elena Vallespín, Amaka Offiah, Manuel Parrón-Pajares, Isabel Dinis, Sergio B Sousa, Purificación Ros-Pérez, Isabel González-Casado, Karen E Heath
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature. Clinical endocrinology 88 (6) (2018)

Lucia Sentchordi-Montané.css-eqlu8i{font-size:small;padding-left:4px;} (Lucía Sentchordi-Montané)

Publication Activity (10 Years)

Top Topics

Top Venues

Lucia Sentchordi-Montané (Lucía Sentchordi-Montané)