List of works - Francisco Martinez

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

scientific article

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

scientific article

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

scientific article (publication date: 10 August 2012)

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

scientific article published on 8 January 2009

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

scientific article

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

scientific article published on 12 September 2016

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

scientific article published in August 1999

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease

article

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

scientific article published on 4 April 2012

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

scientific article published on 9 May 2016

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

scientific article published on 15 April 2008

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

scientific article published on 02 March 2012

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

scientific article published on January 2009

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

scientific article

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

scientific article published in February 2007

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B

scientific article

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

scientific article published in June 2006

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping

scientific article

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome

scientific article published in December 2003

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation

scientific article published on 16 September 2011

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

scientific article

MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors

scientific article published on 27 September 2008

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

scientific article published on 22 July 2015

Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients.

scientific article published on 7 February 2010

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

scientific article published on 8 August 2016

Infectious and immunologic phenotype of MECP2 duplication syndrome

scientific article published on 27 February 2015

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

scientific article published on 27 November 2017

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

scientific article published on January 2010

Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma

scientific article

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

scientific article published on 20 December 2018

NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

scientific article published on 01 March 2009

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3.

scientific article

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

scientific article published on 22 March 2011

Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes

scientific article published on 01 January 2006

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

article

Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma

scientific article

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci

scientific article published in February 2007

Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification

scientific article

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

scientific article

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

scientific article published on 31 August 2009

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

scientific article published in August 2001

Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.

scientific article published in July 2014

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients

scientific article

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

scientific article

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

scientific article

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

article

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

scientific article published on 05 January 2012

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

scientific article published on 26 July 2018

List of works by Francisco Martinez

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

MAGE-A1 expression is associated with good prognosis in neuroblastoma tumors

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients.

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Infectious and immunologic phenotype of MECP2 duplication syndrome

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3.

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci

Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.

Multi-system involvement in a severe variant of fibrodysplasia ossificans progressiva (ACVR1 c.772G>A; R258G): A report of two patients

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder