Francisca Díaz-González (Francisca Diaz-Gonzalez)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 7

Top Venues

European journal of endocrinology

Clinical genetics

European journal of human genetics : EJHG

Journal of medical genetics

INGEMM. Hospital Universitario La Paz

Universidad Complutense de Madrid (MSC)

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

Affiliation History

INGEMM. Hospital Universitario La Paz Dec 01 2018

Spain

PhD researcher :: Molecular Endocrinology

Education History

Universidad Complutense de Madrid

Spain

MSC

Publications

Francisca Díaz-González, Lucía 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 (2024)
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)
Özlem Akgün Doğan, Francisca Díaz-González, Alexander Augusto de Lima Jorge, Neslihan Onenli-Mungan, Nathalia Liberatoscioli Menezes Andrade, Laurana de Polli Cellin, Serdar Ceylaner, Maria Barcellos Rosa Modkovski, Yasemin Alanay, Karen E Heath
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant. European journal of human genetics : EJHG (2023)
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)
Alistair T Pagnamenta, Francisca Díaz-González, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Alistair D Calder, Ehsan G Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E Heath, Homa Tajsharghi, Deborah Shears, Jenny C Taylor, null null
Variable skeletal phenotypes associated with biallelic variants in PRKG2. Journal of medical genetics (2021)
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)

Francisca Díaz-González.css-eqlu8i{font-size:small;padding-left:4px;} (Francisca Diaz-Gonzalez)

Publication Activity (10 Years)

Top Topics

Top Venues

Francisca Díaz-González (Francisca Diaz-Gonzalez)