Victor Martinez-Glez
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Explore the profile of Victor Martinez-Glez including associated specialties, affiliations and a list of published articles.
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72
Citations
1014
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Recent Articles
1.
Ivars M, Frieden I, Provini L, Wassef M, Weibel L, Theiler M, et al.
Pediatr Dermatol
. 2024 Aug;
41(6):1063-1076.
PMID: 39161100
Background: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified....
2.
Manso-Bazus C, Spataro N, Gabau E, Beltran-Salazar V, Trujillo-Quintero J, Capdevila N, et al.
Front Genet
. 2024 Feb;
15:1291063.
PMID: 38356699
Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental...
3.
Lassaletta L, Acle Cervera L, Altuna X, Amilibia Cabeza E, Aristegui Ruiz M, Caletrio A, et al.
Acta Otorrinolaringol Esp (Engl Ed)
. 2024 Feb;
75(2):108-128.
PMID: 38346489
Introduction: Vestibular schwannoma (VS) is the most common tumour of the cerebellopontine angle. The greater accessibility to radiological tests has increased its diagnosis. Taking into account the characteristics of the...
4.
Luque-Luna M, Ivars M, Lavarino C, Olaciregui N, Zurriaga C, Martinez-Glez V, et al.
J Eur Acad Dermatol Venereol
. 2023 Dec;
38(7):e568-e569.
PMID: 38088475
No abstract available.
5.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses...
6.
Moreno Alfonso J, Mendez-Maestro I, Coll I Prat A, Rodriguez-Laguna L, Martinez-Glez V, Triana P, et al.
Eur J Pediatr Surg
. 2023 Aug;
34(1):78-83.
PMID: 37595632
Introduction: Parkes Weber's syndrome (PWS) is a rare genetic disorder characterized by overgrowth and vascular malformations, primarily affecting the extremities. While PWS is known to be associated with arteriovenous and...
7.
Spataro N, Trujillo-Quintero J, Manso C, Gabau E, Capdevila N, Martinez-Glez V, et al.
Genes (Basel)
. 2023 Mar;
14(3).
PMID: 36980980
Neurodevelopmental disorders (NDDs) affect 2-5% of the population and approximately 50% of cases are due to genetic factors. Since pathogenic variants account for the majority of cases, a gene panel...
8.
Alvarez L, Tenorio-Castano J, Poletta F, Santos-Simarro F, Arias P, Gallego N, et al.
Am J Med Genet A
. 2022 Oct;
191(1):100-107.
PMID: 36308343
We present a large, ten-generation family of 273 individuals with 84 people having preaxial polydactyly/triphalangeal thumb due to a pathogenic variant in the zone of polarizing activity regulatory sequence (ZRS)...
9.
Triana P, Sarmiento M, Rodriguez-Laguna L, Martinez-Glez V, Lopez-Gutierrez J
Ann Vasc Surg
. 2022 Jul;
88:233-238.
PMID: 35878698
Background: PIK3CA-related overgrowth syndrome (PROS) include a heterogeneous group of disorders characterized by segmental overgrowth secondary to somatic mosaic activating variants in PIK3CA. Segmental undergrowth is more uncommon and has...
10.
Pessanha I, Triana P, Martinez-Glez V, Lopez-Gutierrez J
BMJ Case Rep
. 2022 Jun;
15(6).
PMID: 35688571
A teenage boy was admitted due to a thoracic mass with previous respiratory infections. The CT scan showed phleboliths in a cystic lesion with large draining channels. He also presented...