Lucía Sentchordi-Montané

5PUBLICATIONS
13CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Adolescent healthNeurogeneticsDevelopmental genetics (incl. sex determination)
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Publications (5)

|Jun 25, 2024
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.

Francisca Díaz-González, Lucía Sentchordi-Montané, Elsa Lucas-Castro

|Apr 30, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro

|Sep 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Lucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona

|Nov 03, 2020
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Lucia Sentchordi-Montané, Francisca Diaz-Gonzalez, Elena V Cátedra-Vallés

|Feb 22, 2018
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Lucía Sentchordi-Montané, Miriam Aza-Carmona, Sara Benito-Sanz

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Frequent Collaborators

5 joint publications

Karen E Heath

4 joint publications

Francisca Diaz-Gonzalez

3 joint publications

Silvia Modamio-Høybjør

2 joint publications

Fernando Santos-Simarro