List of works - Victor Martínez-Glez

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

scientific article

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

A six-attribute classification of genetic mosaicism

scientific article published on 14 July 2020

Allelic status of 1p and 19q in oligodendrogliomas and glioblastomas: multiplex ligation-dependent probe amplification versus loss of heterozygosity

scientific article published in April 2009

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

scientific article published on 25 February 2015

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

scientific article published on 28 August 2015

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

scientific article published on 19 January 2011

Biology molecular of glioblastomas

scientific article published in October 2007

Biomarkers in Vestibular Schwannoma-Associated Hearing Loss

scientific article published on 18 September 2019

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

scientific article published in June 2010

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

scientific article published on 21 April 2009

CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

scientific article published on 15 February 2018

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

scientific article

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

scientific article published on 2 August 2016

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

article

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

scientific article published on 28 October 2006

Constitutional Mosaicism in RASA1 -Related Capillary Malformation-Arteriovenous Malformation (CM-AVM)

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

article

Constitutional mosaicism in RASA1 -related capillary malformation-arteriovenous malformation

scientific article published on 04 February 2019

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

scientific article published on 24 June 2013

Cutaneous and ophthalmic signs as a clue to early diagnosis of severe neurofibromatosis type 2: report of a novel mutation that predicts this poor prognosis

scientific article published on 08 April 2014

DAPK1 promoter hypermethylaiton in brain metastases and peripheral blood.

scientific article published in January 2007

DNA methylation pattern in 16 tumor-related genes in schwannomas

article

Detection of gene amplification and copy gains in brain metastases of solid tumors using quantitative real-time polymerase chain reaction.

scientific article

EGFR sequence variations and real-time quantitative polymerase chain reaction analysis of gene dosage in brain metastases of solid tumors

scientific article published in February 2007

Expression analysis of tumor-related genes involved in critical regulatory pathways in schwannomas

scientific article published on 2 October 2012

Familial hypercholesterolemia: a single-nucleotide variant (SNV) in mosaic at the Low density lipoprotein receptor (LDLR)

Gene dosage and mutational analyses of EGFR in oligodendrogliomas

scientific article published in January 2007

Gene expression analysis of aberrant signaling pathways in meningiomas

scientific article

Genetic and epigenetic alteration of theNF2gene in sporadic meningiomas

article

Genomic deletions at 1p and 14q are associated with an abnormal cDNA microarray gene expression pattern in meningiomas but not in schwannomas

article

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

scientific article

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

scientific article

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

scientific article

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

scientific article

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

scientific article published on 13 November 2017

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

scientific article published on 01 December 2010

Meningiomas and schwannomas: molecular subgroup classification found by expression arrays

scientific article published on 01 February 2009

Microarray gene expression profiling in meningiomas and schwannomas

scientific article published on January 2008

Mietens-Weber syndrome: two new patients and a review

scientific article

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

scientific article published on 20 December 2016

Multiplex ligation-dependent probe amplification (MLPA) screening in meningioma

scientific article published on 01 March 2007

Mutational analysis of the CITED4 gene in glioblastomas.

scientific article

Mutational analysis of the DAL-1/4.1B tumour-suppressor gene locus in meningiomas

scientific article

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

scientific article published on 5 July 2012

New microdeletion and microduplication syndromes: A comprehensive review.

scientific article published on March 2014

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

scientific article published on 12 December 2017

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

scientific article published on 22 June 2017

RASSF1A methylation and cyclin D1 expression in vestibular schwannomas

scientific article published on 01 August 2007

Real-time quantitative PCR analysis of gene dosages reveals gene amplification in low-grade oligodendrogliomas.

scientific article

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

scientific article published in Nature Communications

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

scientific article published on 19 March 2014

Simpson-Golabi-Behmel syndrome types I and II.

scientific article

Somatic activating mutations in cause generalized lymphatic anomaly

scientific article published on 27 December 2018

Sotos syndrome is associated with leukemia/lymphoma

scientific article published on 01 June 2007

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

scientific article published on 29 January 2014

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

scientific article

[Identification of genetic alterations by multiple ligation-dependent probe amplification (MLPA) analysis in oligodendrogliomas].

scientific article

cDNA microarray expression profile in vestibular schwannoma: correlation with clinical and radiological features

scientific article published on 01 October 2009

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.

scientific article published on 11 September 2017

List of works by Victor Martínez-Glez

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

A new overgrowth syndrome is due to mutations in RNF125.

A six-attribute classification of genetic mosaicism

Allelic status of 1p and 19q in oligodendrogliomas and glioblastomas: multiplex ligation-dependent probe amplification versus loss of heterozygosity

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Biology molecular of glioblastomas

Biomarkers in Vestibular Schwannoma-Associated Hearing Loss

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients

CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

Constitutional Mosaicism in RASA1 -Related Capillary Malformation-Arteriovenous Malformation (CM-AVM)

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Constitutional mosaicism in RASA1 -related capillary malformation-arteriovenous malformation

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

Cutaneous and ophthalmic signs as a clue to early diagnosis of severe neurofibromatosis type 2: report of a novel mutation that predicts this poor prognosis

DAPK1 promoter hypermethylaiton in brain metastases and peripheral blood.

DNA methylation pattern in 16 tumor-related genes in schwannomas

Detection of gene amplification and copy gains in brain metastases of solid tumors using quantitative real-time polymerase chain reaction.

EGFR sequence variations and real-time quantitative polymerase chain reaction analysis of gene dosage in brain metastases of solid tumors

Expression analysis of tumor-related genes involved in critical regulatory pathways in schwannomas

Familial hypercholesterolemia: a single-nucleotide variant (SNV) in mosaic at the Low density lipoprotein receptor (LDLR)

Gene dosage and mutational analyses of EGFR in oligodendrogliomas

Gene expression analysis of aberrant signaling pathways in meningiomas

Genetic and epigenetic alteration of theNF2gene in sporadic meningiomas

Genomic deletions at 1p and 14q are associated with an abnormal cDNA microarray gene expression pattern in meningiomas but not in schwannomas

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

Meningiomas and schwannomas: molecular subgroup classification found by expression arrays

Microarray gene expression profiling in meningiomas and schwannomas

Mietens-Weber syndrome: two new patients and a review

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Multiplex ligation-dependent probe amplification (MLPA) screening in meningioma

Mutational analysis of the CITED4 gene in glioblastomas.

Mutational analysis of the DAL-1/4.1B tumour-suppressor gene locus in meningiomas

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

New microdeletion and microduplication syndromes: A comprehensive review.

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

RASSF1A methylation and cyclin D1 expression in vestibular schwannomas

Real-time quantitative PCR analysis of gene dosages reveals gene amplification in low-grade oligodendrogliomas.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Simpson-Golabi-Behmel syndrome types I and II.

Somatic activating mutations in cause generalized lymphatic anomaly

Sotos syndrome is associated with leukemia/lymphoma

The Human Phenotype Ontology in 2024: phenotypes around the world

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

[Identification of genetic alterations by multiple ligation-dependent probe amplification (MLPA) analysis in oligodendrogliomas].

cDNA microarray expression profile in vestibular schwannoma: correlation with clinical and radiological features

mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review.