Francisca Díaz-González

发表

Cerebral Insulin Bolus Revokes the Changes in Hepatic Lipid Metabolism Induced by Chronic Central Leptin Infusion

G. Frühbeck, J. Argente, V. Barrios, 2021, Cells.

Variable skeletal phenotypes associated with biallelic variants in PRKG2

A. Pagnamenta, Matteo P. Ferla, Jenny C. Taylor, 2021, Journal of Medical Genetics.

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

S. Kapoor, A. Offiah, Deepak Kumar, 2020, Journal of Medical Genetics.

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy

A. Sousa, André M Travessa, K. Heath, 2020, American journal of medical genetics. Part A.

Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.

J. Argente, V. Barrios, Á. Campos-Barros, 2008, The Journal of clinical endocrinology and metabolism.

First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction

K. Heath, Manuel Parrón-Pajares, Francisca Díaz-González, 2020, American journal of medical genetics. Part A.

Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient

K. Heath, M. del Pino, V. Fano, 2023, American journal of medical genetics. Part A.

Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice

K. Heath, Francisca Díaz-González, L. Sentchordi-Montané, 2020, Clinical genetics.

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

F. Santos-Simarro, S. Sousa, K. Heath, 2023, Clinical genetics.

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

S. Twigg, F. Santos-Simarro, F. Carceller-Benito, 2023, Frontiers in Genetics.

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.

Y. Alanay, S. Ceylaner, K. Heath, 2023, European journal of human genetics : EJHG.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

F. Santos-Simarro, J. Nevado, C. de la Torre, 2021, European journal of endocrinology.

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant

K. Heath, J. Romeu, Francisca Díaz-González, 2023, European Journal of Medical Genetics.