Lista de obras - Francisco Martinez - Dominio Público Uruguay

A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

artículo científico publicado en 2018

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

artículo científico publicado en 2015

A subtelomeric translocation apparently implied in multiple abortions.

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

Afectación neurológica precoz en pacientes con incontinencia pigmenti

artículo científico publicado en 2009

Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. ().

artículo científico publicado en 2017

Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

artículo científico publicado en 2017

Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence

artículo científico publicado en 2013

Clinical findings and molecular characterization of six subtelomeric imbalances

scientific article published on 01 May 2007

Clinical implication of FMR1 intermediate alleles in a Spanish population.

artículo científico publicado en 2018

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.

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

scientific article published on 01 September 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

artículo científico publicado en 2007

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

article

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

artículo científico publicado en 2006

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

artículo científico publicado en 2018

Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients

artículo científico publicado en 2008

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families

scientific article published on 22 November 2019

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

artículo científico publicado en 2017

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease

article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

artículo científico publicado en 2015

Infectious and immunologic phenotype of MECP2 duplication syndrome

artículo científico publicado en 2015

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

artículo científico publicado en 2012

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

artículo científico publicado en 2004

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

artículo científico publicado en 1995

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

artículo científico publicado en 2001

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

Microphthalmia with linear skin defects syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

artículo científico publicado en 2019

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 1999

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

artículo científico publicado en 2012

Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia

scientific article published on 24 August 2020

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

artículo científico publicado en 2015

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

scientific article published on 01 March 2009

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

artículo científico publicado en 2011

Phenotype profiling of patients with intellectual disability and copy number variations.

artículo científico publicado en 2014

Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion

artículo científico publicado en 2014

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

artículo científico publicado en 2009

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

article

Recombinant X chromosome in a prenatal diagnosis.

artículo científico publicado en 2006

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

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

scientific article published on 01 January 2006

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

artículo científico publicado en 2014

Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

scientific journal article

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

article

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

artículo científico publicado en 2009

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

Lista de obras de Francisco Martinez

A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

A subtelomeric translocation apparently implied in multiple abortions.

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

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

Afectación neurológica precoz en pacientes con incontinencia pigmenti

Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. ().

Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence

Clinical findings and molecular characterization of six subtelomeric imbalances

Clinical implication of FMR1 intermediate alleles in a Spanish population.

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.

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

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

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

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

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

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

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

Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

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

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

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

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

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

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

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

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

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

Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families

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

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

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

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease

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

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

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

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

Infectious and immunologic phenotype of MECP2 duplication syndrome

Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.

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

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

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

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

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

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

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

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

Microphthalmia with linear skin defects syndrome

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

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

Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

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

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

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

Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia

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

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

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

Phenotype profiling of patients with intellectual disability and copy number variations.

Prenatal diagnosis of a female fetus with ring chromosome 9, 46,XX,r(9)(p24q34), and a de novo interstitial 9p deletion

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

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

Recombinant X chromosome in a prenatal diagnosis.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

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

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

Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm

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

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

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

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

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.