Lista de obras - Valeria Capra - Dominio Público Uruguay

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

artículo científico publicado en 2011

A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects.

artículo científico publicado en 2001

Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation

artículo científico publicado en 2012

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

artículo científico publicado en 2015

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

artículo científico publicado en 2016

Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome.

artículo científico publicado en 2008

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome

artículo científico publicado en 2006

Characterization, localization, and biosynthesis of acetylcholinesterase in K 562 cells

scientific article published on 01 November 1988

Congenital multifocal rhabdoid tumor: a case with peculiar biological behavior and different response to treatment according to location (central nervous system and kidney).

artículo científico publicado en 2014

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.

artículo científico publicado en 2014

Contribution of VANGL2 mutations to isolated neural tube defects ⬇️

artículo científico publicado el 22 de julio de 2010

Cost effective assay choice for rare disease study designs

artículo científico publicado en 2015

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome

artículo científico publicado en 2008

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

article

Detection of Transplacental Melanoma Metastasis Using Quantitative PCR

artículo científico publicado en 2010

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

artículo científico publicado en 2019

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma.

artículo científico publicado en 2015

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk

artículo científico publicado en 2006

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

artículo científico

Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction

artículo científico publicado en 2015

FZD6is a novel gene for human neural tube defects ⬇️

artículo científico publicado el 28 de noviembre de 2011

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

article

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects

artículo científico publicado en 2012

Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects

artículo científico publicado en 2014

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

artículo científico publicado en 1996

High levels of PROM1 (CD133) transcript are a potential predictor of poor prognosis in medulloblastoma

artículo científico publicado en 2011

Human neural tube defects: Genetic causes and prevention ⬇️

artículo científico publicado el 14 de junio de 2011

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

artículo científico publicado en 2011

Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family

scientific article published on 01 February 2009

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

artículo científico publicado en 2012

Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature.

artículo científico publicado en 2016

Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?

artículo científico publicado en 2011

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

artículo científico publicado en 2014

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits

artículo científico publicado en 2015

Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

artículo científico publicado en 2006

Loss of 10q26.1-q26.3 in association with 7q34-q36.3 gain or 17q24.3-q25.3 gain predict poor outcome in pediatric medulloblastoma.

artículo científico publicado en 2011

Loss-of-function de novo mutations play an important role in severe human neural tube defects

artículo científico publicado en 2015

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly

artículo científico publicado en 2017

Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case–control study ⬇️

artículo científico publicado el 5 de enero de 2011

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective

artículo científico publicado en 2009

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation

artículo científico publicado en 2019

Molecular fingerprinting reflects different histotypes and brain region in low grade gliomas.

artículo científico publicado en 2013

Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects

scientific article published on 01 November 2004

Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome.

artículo científico publicado en 2006

Mutations in VANGL1 associated with neural-tube defects

artículo científico publicado en 2007

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

artículo científico publicado en 2011

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

artículo científico publicado en 2015

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study

artículo científico publicado en 2022

No major role for theEMX2gene in schizencephaly

article

Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy

artículo científico publicado en 2018

Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases

artículo científico publicado en 2013

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

artículo científico publicado en 2013

PDCD10 gene mutations in multiple cerebral cavernous malformations

artículo científico publicado en 2014

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring

artículo científico publicado en 2013

Periventricular nodular heterotopia in Smith-Magenis syndrome

artículo científico publicado en 2014

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

artículo científico publicado en 2013

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

artículo científico publicado en 2014

Rare deleterious variants in GRHL3 are associated with human spina bifida

artículo científico publicado en 2017

Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects.

artículo científico publicado en 2013

Rhabdoid meningioma of the tentorium with expression of desmin in a 12-year-old Turner syndrome patient

scientific article published on 16 July 2005

Risk of meningomyelocele mediated by the common 22q11.2 deletion

artículo científico publicado en 2024

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis ⬇️

artículo científico publicado el 28 de febrero de 2012

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans

artículo científico publicado en 2015

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

artículo científico publicado en 2014

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation

artículo científico publicado en 2007

Simultaneous occurrence of pancreatoblastoma and neuroblastoma in a newborn with beckwith-wiedemann syndrome

artículo científico publicado en 2010

Spina bifida and folate-related genes: a study of gene-gene interactions.

artículo científico publicado en 2002

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma.

artículo científico publicado en 2016

Structural Connectivity Analysis in Children with Segmental Callosal Agenesis

artículo científico publicado en 2017

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

artículo científico publicado en 2002

Successful isolation and long-term establishment of a cell line with stem cell-like features from an anaplastic medulloblastoma.

artículo científico publicado en 2007

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

article

Toward understanding the genetic basis of neural tube defects.

artículo científico publicado en 2007

Troubleshooting fine-tuning procedures for qPCR system design.

artículo científico publicado en 2011

Urological outcome in patients with Currarino syndrome.

artículo científico publicado en 2014

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

artículo científico publicado en 2008

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.

artículo científico publicado en 2010

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

artículo científico publicado en 2009

Whole exome sequencing identifies novel predisposing genes in neural tube defects

artículo científico publicado en 2018

Lista de obras de Valeria Capra

A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc.

A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects.

Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome.

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome

Characterization, localization, and biosynthesis of acetylcholinesterase in K 562 cells

Congenital multifocal rhabdoid tumor: a case with peculiar biological behavior and different response to treatment according to location (central nervous system and kidney).

Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.

Contribution of VANGL2 mutations to isolated neural tube defects ⬇️

Cost effective assay choice for rare disease study designs

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

Detection of Transplacental Melanoma Metastasis Using Quantitative PCR

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma.

Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk

Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations.

Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction

FZD6is a novel gene for human neural tube defects ⬇️

Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor

Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects

Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

High levels of PROM1 (CD133) transcript are a potential predictor of poor prognosis in medulloblastoma

Human neural tube defects: Genetic causes and prevention ⬇️

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature.

Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits

Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

Loss of 10q26.1-q26.3 in association with 7q34-q36.3 gain or 17q24.3-q25.3 gain predict poor outcome in pediatric medulloblastoma.

Loss-of-function de novo mutations play an important role in severe human neural tube defects

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly

Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case–control study ⬇️

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation

Molecular fingerprinting reflects different histotypes and brain region in low grade gliomas.

Molecular genetic analysis of human homologs of Caenorhabditis elegans mab-21-like 1 gene in patients with neural tube defects

Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome.

Mutations in VANGL1 associated with neural-tube defects

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans

Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study

No major role for theEMX2gene in schizencephaly

Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy

Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

PDCD10 gene mutations in multiple cerebral cavernous malformations

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring

Periventricular nodular heterotopia in Smith-Magenis syndrome

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.

Rare deleterious variants in GRHL3 are associated with human spina bifida

Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects.

Rhabdoid meningioma of the tentorium with expression of desmin in a 12-year-old Turner syndrome patient

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis ⬇️

Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation

Simultaneous occurrence of pancreatoblastoma and neuroblastoma in a newborn with beckwith-wiedemann syndrome

Spina bifida and folate-related genes: a study of gene-gene interactions.

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma.

Structural Connectivity Analysis in Children with Segmental Callosal Agenesis

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

Successful isolation and long-term establishment of a cell line with stem cell-like features from an anaplastic medulloblastoma.

The iduronate sulfatase gene: Isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome

Toward understanding the genetic basis of neural tube defects.

Troubleshooting fine-tuning procedures for qPCR system design.

Urological outcome in patients with Currarino syndrome.

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish.