Víctor Martínez‐Glez

Author

Also Known As

Hector N. Seuanez, Martínez-Glez, V Martinez-Glez, V Martínez-González, V. Martinez-Glez, V. Martinez‐Glez, V. Martínez-Glez, VICTOR MARTINEZ-GLEZ, Victor Martinez-Glez, Victor Martinez-González

114

Publications

3.1K

Citations

H-Index

Concepts

All Affiliations

Hospital Universitario La Paz Centre for Biomedical Network Research on Rare Diseases Instituto de Salud Carlos III Universidad Autónoma de Madrid Centro de Investigación Biomédica en Red

About

Víctor Martínez‐Glez is an author at Hospital Universitario La Paz specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	24	1.2K
2	Cell Biology	7	7	381
3	Engineering	3	3	56
4	Health Sciences	1	1	16
5	Public Health	1	1	14

Víctor Martínez‐Glez

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
The Human Phenotype Ontology in 2024: phenotypes around the world Michael Gargano, Nicolas Matentzoglu, Ben Coleman, Nucleic Acids Research	2023	311
Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta Pablo Lapunzina, Mona Aglan, Samia A. Temtamy, The American Journal of Human Genetics Bone DiseaseRecessive Osteogenesis ImperfectaDevelopmental BiologyOsteopathyGenetics	2010	283
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta Víctor Martínez‐Glez, José A. Caparrós‐Martín, Mona Aglan, Human Mutation SclerostinGeneticsBone RepairNormal MtldOsteogenesis	2011	213
Somatic activating mutations in <i>PIK3CA</i> cause generalized lymphatic anomaly Lara Rodríguez‐Laguna, Noelia Agrá, Kristina Ibáñez, The Journal of Experimental Medicine	2018	140
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan, Human Mutation	2012	95
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo, Genetics in Medicine Developmental BiologyGenetic DisorderGeneticsNatural HistoryClapo Syndrome	2018	78
Genetic and epigenetic alteration of the <i>NF2</i> gene in sporadic meningiomas Jesús Lomas, M. Josefa Bello, Dolores Arjona, Genes Chromosomes and Cancer	2004	77
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome Anneke J.A. Kievit, Federico Tessadori, Hannie Douben, European Journal of Human Genetics Signal TransductionCadherin–catenin ComplexPathologyDegenerative DiseaseNeuropathology	2018	69
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Luís Fernández, Julián Nevado, Fernando Santos, BMC Medical Genetics	2009	68
Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria Víctor Martínez‐Glez, Valeria Romanelli, María Ángeles Mori, American Journal of Medical Genetics Part A	2010	66

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