about
Gene expression analysis of aberrant signaling pathways in meningiomasIdentification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewHypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.Simpson-Golabi-Behmel syndrome types I and II.Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms TumorMietens-Weber syndrome: two new patients and a review.Microarray gene expression profiling in meningiomas and schwannomas.Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaNew microdeletion and microduplication syndromes: A comprehensive review.Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.Expression analysis of tumor-related genes involved in critical regulatory pathways in schwannomas.Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients.Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.DAPK1 promoter hypermethylaiton in brain metastases and peripheral blood.EGFR sequence variations and real-time quantitative polymerase chain reaction analysis of gene dosage in brain metastases of solid tumors.Gene dosage and mutational analyses of EGFR in oligodendrogliomas.Allelic status of 1p and 19q in oligodendrogliomas and glioblastomas: multiplex ligation-dependent probe amplification versus loss of heterozygosity.Mutational analysis of the DAL-1/4.1B tumour-suppressor gene locus in meningiomas.Mutational analysis of the CITED4 gene in glioblastomas.CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.A new overgrowth syndrome is due to mutations in RNF125.Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.[Biology molecular of glioblastomas]Detection of gene amplification and copy gains in brain metastases of solid tumors using quantitative real-time polymerase chain reaction.Real-time quantitative PCR analysis of gene dosages reveals gene amplification in low-grade oligodendrogliomas.CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.[Identification of genetic alterations by multiple ligation-dependent probe amplification (MLPA) analysis in oligodendrogliomas].Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanismClinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlationsAnalysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization
P50
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Victor Martínez-Glez
@ast
Victor Martínez-Glez
@en
Victor Martínez-Glez
@es
Victor Martínez-Glez
@nl
Victor Martínez-Glez
@sl
type
label
Victor Martínez-Glez
@ast
Victor Martínez-Glez
@en
Victor Martínez-Glez
@es
Victor Martínez-Glez
@nl
Victor Martínez-Glez
@sl
prefLabel
Victor Martínez-Glez
@ast
Victor Martínez-Glez
@en
Victor Martínez-Glez
@es
Victor Martínez-Glez
@nl
Victor Martínez-Glez
@sl
P1053
E-2344-2011
P106
P21
P31
P3829
P496
0000-0002-4680-881X