Search Results - "Díaz‐González, Francisca"

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases by Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Lucas‐Castro, Elsa, Modamio‐Høybjør, Silvia, Sentchordi‐Montané, Lucia, Seidel, Verónica, Prieto, Pablo, Tarraso‐Urios, Guillermo, Codina‐Sola, Marta, Cueto‐González, Anna M., Ballesta‐Martínez, Mary J., Santos‐Simarro, Fernando, Sousa, Sergio B., Heath, Karen E.

“…Spondyloepimetaphyseal dysplasia (SEMD), RPL13‐related is caused by heterozygous variants in RPL13, which encodes the ribosomal protein eL13, a component of…”
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First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction by Díaz‐González, Francisca, Parrón‐Pajares, Manuel, Barcia‐Ramirez, Ana, Heath, Karen E.

“…Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is an extremely rare autosomal recessive limb abnormality characterized by the fusion of third…”
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Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant by Travessa, André M., Dias, Patrícia, Rosmaninho-Salgado, Joana, Aza-Carmona, Miriam, Moldovan, Oana, Díaz‐González, Francisca, Godinho, Fátima, Romeu, José Carlos, Oliveira-Ramos, Filipa, do Céu Barreiros, Maria, Sousa, Sérgio B., Heath, Karen E., Sousa, Ana Berta

“…Osteogenesis imperfecta (OI) type VI is an extremely rare form of OI caused by biallelic variants in the SERPINF1 gene, which codes for the pigment-epithelium…”
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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy by Travessa, André M., Díaz‐González, Francisca, Mirco, Teresa, Oliveira‐Ramos, Filipa, Parrón‐Pajares, Manuel, Heath, Karen E., Sousa, Ana Berta

“…Spondyloepiphyseal dysplasia type Stanescu (SED‐S) is a very rare type II collagenopathy. We describe an 8‐year‐old boy who presented with short trunk, C2‐C3…”
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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 by Heath, Karen E., Argente, Jesús, Barrios, Vicente, Pozo, Jesús, Díaz-González, Francisca, Martos-Moreno, Gabriel A., Caimari, María, Gracia, Ricardo, Campos-Barros, Ángel

“…Context: Up to 90% of circulating IGF-I and IGF-II are carried bound to either IGF binding protein (IGFBP)-3 or IGFBP-5 and the acid-labile subunit (ALS) in…”
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Cerebral Insulin Bolus Revokes the Changes in Hepatic Lipid Metabolism Induced by Chronic Central Leptin Infusion by Barrios, Vicente, López-Villar, Elena, Frago, Laura M, Canelles, Sandra, Díaz-González, Francisca, Burgos-Ramos, Emma, Frühbeck, Gema, Chowen, Julie A, Argente, Jesús

“…Central actions of leptin and insulin on hepatic lipid metabolism can be opposing and the mechanism underlying this phenomenon remains unclear. Both hormones…”
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Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant by Akgun-Dogan, Ozlem, Díaz-González, Francisca, de Lima Jorge, Alexander Augusto, Onenli-Mungan, Neslihan, Menezes Andrade, Nathalia Liberatoscioli, de Polli Cellin, Laurana, Ceylaner, Serdar, Barcellos Rosa Modkovski, Maria, Alanay, Yasemin, Heath, Karen E.

“…Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe disproportionate…”
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Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects by Díaz-González, Francisca, Sentchordi-Montané, Lucía, Lucas Castro, Elsa, Modamio-Høybjør, Silvia, Heath, Karen E

“…Heterozygous Indian Hedgehog gene (IHH) variants are associated with brachydactyly type A1 (BDA1). However, in recent years, numerous variants have been…”
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Biallelic cGMP-dependent type II protein kinase gene ( PRKG2 ) variants cause a novel acromesomelic dysplasia by Díaz-González, Francisca, Wadhwa, Saruchi, Rodriguez-Zabala, Maria, Kumar, Somesh, Aza-Carmona, Miriam, Sentchordi-Montané, Lucia, Alonso, Milagros, Ahmad, Istaq, Zahra, Sana, Kumar, Deepak, Kushwah, Neetu, Shamim, Uzma, Sait, Haseena, Kapoor, Seema, Roldán, Belen, Nishimura, Gen, Offiah, Amaka C, Faruq, Mohammed, Heath, Karen E

“…C-type natriuretic peptide (CNP), its endogenous receptor, natriuretic peptide receptor-B (NPR-B), as well as its downstream mediator, cyclic guanosine…”
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Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient by del Pino, Mariana, Huckstadt, Victoria, Diaz‐Gonzalez, Francisca, Obregon, Maria Gabriela, Heath, Karen E., Fano, Virginia

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Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice by Sentchordi‐Montané, Lucia, Diaz‐Gonzalez, Francisca, Cátedra‐Vallés, Elena V., Heath, Karen E.

“…Multiple synostosis syndrome (SYNS) is a heterogeneous group of genetic disorders mainly characterized by multiple joint synostosis due to variants in either…”
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High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies by Sentchordi-Montané, Lucía, Benito-Sanz, Sara, Aza-Carmona, Miriam, Díaz-González, Francisca, Modamio-Høybjør, Silvia, de la Torre, Carolina, Nevado, Julián, Ruiz-Ocaña, Pablo, Bezanilla-López, Carolina, Prieto, Pablo, Bahíllo-Curieses, Pilar, Carcavilla, Atilano, Mulero-Collantes, Inés, Barreda-Bonis, Ana C, Cruz-Rojo, Jaime, Ramírez-Fernández, Joaquín, Bermúdez de la Vega, José Antonio, Travessa, André M, González de Buitrago Amigo, Jesús, del Pozo, Angela, Vallespín, Elena, Solís, Mario, Goetz, Carlos, Campos-Barros, Ángel, Santos-Simarro, Fernando, González-Casado, Isabel, Ros-Pérez, Purificación, Parrón-Pajares, Manuel, Heath, Karen E

“…Objective Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine…”
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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 by Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M, Twigg, Stephen R F, Calpena, Eduardo, Carceller-Benito, Fernando E, Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E

“…Saethre-Chotzen syndrome, a craniosynostosis syndrome characterized by the premature closure of the coronal sutures, dysmorphic facial features and limb…”
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Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy by Travessa, André M, Díaz-González, Francisca, Mirco, Teresa, Oliveira-Ramos, Filipa, Parrón-Pajares, Manuel, Heath, Karen E, Sousa, Ana Berta

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Clinical and radiological heterogeneity for the rare FGFR3 variant, p. Ser344Cys , description of a third patient by del Pino, Mariana, Huckstadt, Victoria, Diaz‐Gonzalez, Francisca, Obregon, Maria Gabriela, Heath, Karen E., Fano, Virginia

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Variable skeletal phenotypes associated with biallelic variants in PRKG2 by Pagnamenta, Alistair T, Diaz-Gonzalez, Francisca, Banos-Pinero, Benito, Ferla, Matteo P, Toosi, Mehran B, Calder, Alistair D, Karimiani, Ehsan G, Doosti, Mohammad, Wainwright, Andrew, Wordsworth, Paul, Bailey, Kathryn, Ejeskär, Katarina, Lester, Tracy, Maroofian, Reza, Heath, Karen E, Tajsharghi, Homa, Shears, Deborah, Taylor, Jenny C

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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 by Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M, Twigg, Stephen R F, Calpena, Eduardo, Carceller-Benito, Fernando E, Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E

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