Fernando Santos-Simarro
Overview
Explore the profile of Fernando Santos-Simarro including associated specialties, affiliations and a list of published articles.
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Articles
83
Citations
1791
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Recent Articles
1.
Trujillano L, Valenzuela I, Costa-Roger M, Cusco I, Fernandez-Alvarez P, Cueto-Gonzalez A, et al.
Clin Genet
. 2025 Jan;
PMID: 39833101
Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive...
2.
Vendrell X, Abuli A, Serra C, Guillen J, Rueda J, Garcia-Planells J, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39623216
Autosomal recessive or X-linked disorders are passed from parents to offspring through Mendelian inheritance patterns and may lead to severe clinical manifestations in early childhood development. Together, the Spanish Association...
3.
Haghshenas S, Bout H, Schijns J, Levy M, Kerkhof J, Bhai P, et al.
HGG Adv
. 2024 Sep;
5(4):100337.
PMID: 39306848
No abstract available.
4.
Maria Del Rocio P, Palomares Bralo M, Vanhooydonck M, Hamerlinck L, Dhaene E, Leimbacher S, et al.
medRxiv
. 2024 Aug;
PMID: 39148819
8q21.11 microdeletions encompassing the gene encoding transcription factor ZFHX4, have previously been associated by us with a syndromic form of intellectual disability, hypotonia, decreased balance and hearing loss. Here, we...
5.
Ventayol-Guirado M, Torres L, Asensio-Landa V, Perez-Granero A, Madrid M, Hernandez-Rodriguez J, et al.
Am J Med Genet A
. 2024 Aug;
194(12):e63830.
PMID: 39095963
Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct disorders typically associated with pathogenic variants in TSC1 and TSC2 for the former and PKD1 and...
6.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sanchez-Pozo J, Lazaro-Rodriguez I, et al.
Pediatr Neurol
. 2024 Apr;
155:8-17.
PMID: 38569228
Background: TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations. Methods: We...
7.
Haghshenas S, Bout H, Schijns J, Levy M, Kerkhof J, Bhai P, et al.
HGG Adv
. 2024 Mar;
5(3):100287.
PMID: 38553851
CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or...
8.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper E, Douzgou Houge S, Garcia-Minaur S, et al.
J Med Genet
. 2024 Mar;
61(6):503-519.
PMID: 38471765
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It...
9.
Sandoval-Talamantes A, Tenorio-Castano J, Santos-Simarro F, Adan C, Fernandez-Elvira M, Garcia-Fernandez L, et al.
Genes (Basel)
. 2023 Nov;
14(11).
PMID: 38003033
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by deficiencies in communication, social interaction, and repetitive and restrictive behaviors. The discovery of genetic involvement in the etiology...
10.
Parra A, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, San-Martin E, et al.
Clin Genet
. 2023 Oct;
105(2):140-149.
PMID: 37904618
DDX3X is a multifunctional ATP-dependent RNA helicase involved in several processes of RNA metabolism and in other biological pathways such as cell cycle control, innate immunity, apoptosis and tumorigenesis. Variants...