Lista de obras - Paolo Nozza - Dominio Público Uruguay

A 3-year-old boy with drug-resistant complex partial seizures

artículo científico publicado en 2012

A case of linear IgA disease in a child with IgA and IgG circulating antibodies directed to BPAg2.

artículo científico publicado en 2007

A rare case of osteoblastoma associated to aneurysmal bone cyst of the spine. Case report.

artículo científico publicado en 2015

A unique case of multiple dermatomyofibromas

artículo científico publicado en 2008

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

Bilateral germinoma of the basal ganglia

artículo científico publicado en 2008

Both CD133+ and CD133- medulloblastoma cell lines express ligands for triggering NK receptors and are susceptible to NK-mediated cytotoxicity.

artículo científico publicado en 2007

Cerebellar medullomyoblastoma with melanotic tubular structures.

artículo científico publicado en 2008

Cervico-medullary desmoplastic infantile ganglioglioma: an unusual case with diffuse leptomeningeal dissemination at diagnosis.

artículo científico publicado en 2005

Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.

artículo científico publicado en 2016

Congenital fibrous hamartoma of the knee

scientific article published on 11 March 2006

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

Cystic angiomatosis of the craniocervical junction associated with Chiari I malformation: case report and review of the literature.

artículo científico publicado en 2007

Cytogenetic characterization of a fibrous hamartoma of infancy with complex translocations

artículo científico publicado en 2010

Detection of Transplacental Melanoma Metastasis Using Quantitative PCR

artículo científico publicado en 2010

Diagnostic and prognostic value of 18F-DOPA PET and 1H-MR spectroscopy in pediatric supratentorial infiltrative gliomas: a comparative study.

artículo científico publicado en 2015

Differential diagnosis of lipoma-like lipoblastoma

scientific article published on 01 January 2009

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

artículo científico publicado en 2015

Eosinophilic chromophobe renal cell carcinoma in a child with hypospadias

artículo científico publicado en 2008

Epilepsy associated with supratentorial brain tumors under 3 years of life.

artículo científico publicado en 2009

Evaluation status and prognostic significance of O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation in pediatric high grade gliomas.

artículo científico publicado en 2010

Expression and functional analysis of human leukocyte antigen class I antigen-processing machinery in medulloblastoma.

artículo científico publicado en 2007

Focal nodular hyperplasia-like areas in cirrhosis

artículo científico publicado en 2003

Grading and outcome prediction of pediatric diffuse astrocytic tumors with diffusion and arterial spin labeling perfusion MRI in comparison with 18F-DOPA PET.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

High-throughput microRNA profiling of pediatric high-grade gliomas.

artículo científico publicado en 2013

Human herpesviruses in bullous pemphigoid lesions

scientific article published on 01 February 2005

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

scientific article published on 01 February 2009

Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.

artículo científico publicado en 2013

Infant ependymoma in a 10-year AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica) experience with omitted or deferred radiotherapy.

artículo científico publicado en 2010

Intracerebral schwannoma in a child.

artículo científico publicado en 2010

Intradural Extramedullary Ependymoma with Leptomeningeal Dissemination: The First Case Report in a Child and Literature Review

artículo científico

Juvenile eosinophilic fasciitis: report of three cases with a review of the literature.

artículo científico publicado en 2015

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation

artículo científico publicado en 2006

Laryngeal schwannoma in an 8-year-old boy with inspiratory dyspnea.

artículo científico publicado en 2007

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

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

artículo científico publicado en 2009

Megacystis, megacolon, and malrotation: A new syndromic association?

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Multimodal magnetic resonance imaging and 18F-L-dihydroxyphenylalanine positron emission tomography in early characterization of pseudoresponse and nonenhancing tumor progression in a pediatric patient with malignant transformation of ganglioglioma

artículo científico publicado en 2012

Natural history of cavernous malformations in children with brain tumors treated with radiotherapy and chemotherapy

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

Pediatric Orbital Osteoradionecrosis

artículo científico publicado en 2017

Pharmacokinetics, pharmacodynamics and efficacy on pediatric tumors of the glioma radiosensitizer KU60019.

artículo científico publicado en 2014

Pharyngeal enterogenous cyst associated with canalis basilaris medianus in a newborn

scientific article published on 09 November 2012

Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review

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

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

artículo científico publicado en 2010

Post-chemotherapy maturation of a pineoblastoma

artículo científico publicado en 2010

Primary diffuse leptomeningeal gliomatosis in children: a clinical pathologic correlation.

artículo científico publicado en 2013

Respiratory Distress in a 3-Month-Old Infant with a Mass Obstructing the Right Main-Stem Bronchus: An Unusual Localization of Infantile Hemangioma

artículo científico publicado en 2016

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

scientific article published on 16 July 2005

SMARCB1/INI1 Involvement in Pediatric Chordoma: A Mutational and Immunohistochemical Analysis

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Solitary infantile myofibromatosis of the cranial vault: case report

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Spontaneous regression of transplacental metastases from maternal melanoma in a newborn: case report and review of the literature.

artículo científico publicado en 2010

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

artículo científico publicado en 2007

TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma.

scientific article published on 25 June 2016

Troubleshooting fine-tuning procedures for qPCR system design.

artículo científico publicado en 2011

Value of 18F-3,4-dihydroxyphenylalanine PET/MR image fusion in pediatric supratentorial infiltrative astrocytomas: a prospective pilot study.

artículo científico publicado en 2014

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

artículo científico publicado en 2016

Lista de obras de Paolo Nozza

A 3-year-old boy with drug-resistant complex partial seizures

A case of linear IgA disease in a child with IgA and IgG circulating antibodies directed to BPAg2.

A rare case of osteoblastoma associated to aneurysmal bone cyst of the spine. Case report.

A unique case of multiple dermatomyofibromas

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

Bilateral germinoma of the basal ganglia

Both CD133+ and CD133- medulloblastoma cell lines express ligands for triggering NK receptors and are susceptible to NK-mediated cytotoxicity.

Cerebellar medullomyoblastoma with melanotic tubular structures.

Cervico-medullary desmoplastic infantile ganglioglioma: an unusual case with diffuse leptomeningeal dissemination at diagnosis.

Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation.

Congenital fibrous hamartoma of the knee

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.

Cystic angiomatosis of the craniocervical junction associated with Chiari I malformation: case report and review of the literature.

Cytogenetic characterization of a fibrous hamartoma of infancy with complex translocations

Detection of Transplacental Melanoma Metastasis Using Quantitative PCR

Diagnostic and prognostic value of 18F-DOPA PET and 1H-MR spectroscopy in pediatric supratentorial infiltrative gliomas: a comparative study.

Differential diagnosis of lipoma-like lipoblastoma

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

Eosinophilic chromophobe renal cell carcinoma in a child with hypospadias

Epilepsy associated with supratentorial brain tumors under 3 years of life.

Evaluation status and prognostic significance of O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation in pediatric high grade gliomas.

Expression and functional analysis of human leukocyte antigen class I antigen-processing machinery in medulloblastoma.

Focal nodular hyperplasia-like areas in cirrhosis

Grading and outcome prediction of pediatric diffuse astrocytic tumors with diffusion and arterial spin labeling perfusion MRI in comparison with 18F-DOPA PET.

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

High-throughput microRNA profiling of pediatric high-grade gliomas.

Human herpesviruses in bullous pemphigoid lesions

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

Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.

Infant ependymoma in a 10-year AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica) experience with omitted or deferred radiotherapy.

Intracerebral schwannoma in a child.

Intradural Extramedullary Ependymoma with Leptomeningeal Dissemination: The First Case Report in a Child and Literature Review

Juvenile eosinophilic fasciitis: report of three cases with a review of the literature.

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation

Laryngeal schwannoma in an 8-year-old boy with inspiratory dyspnea.

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.

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

Megacystis, megacolon, and malrotation: A new syndromic association?

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

Multimodal magnetic resonance imaging and 18F-L-dihydroxyphenylalanine positron emission tomography in early characterization of pseudoresponse and nonenhancing tumor progression in a pediatric patient with malignant transformation of ganglioglioma

Natural history of cavernous malformations in children with brain tumors treated with radiotherapy and chemotherapy

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

Pediatric Orbital Osteoradionecrosis

Pharmacokinetics, pharmacodynamics and efficacy on pediatric tumors of the glioma radiosensitizer KU60019.

Pharyngeal enterogenous cyst associated with canalis basilaris medianus in a newborn

Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review

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

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

Post-chemotherapy maturation of a pineoblastoma

Primary diffuse leptomeningeal gliomatosis in children: a clinical pathologic correlation.

Respiratory Distress in a 3-Month-Old Infant with a Mass Obstructing the Right Main-Stem Bronchus: An Unusual Localization of Infantile Hemangioma

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

SMARCB1/INI1 Involvement in Pediatric Chordoma: A Mutational and Immunohistochemical Analysis

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

Solitary infantile myofibromatosis of the cranial vault: case report

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

Spontaneous regression of transplacental metastases from maternal melanoma in a newborn: case report and review of the literature.

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

TP53 codon 72 polymorphism may predict early tumour progression in paediatric pilocytic astrocytoma.

Troubleshooting fine-tuning procedures for qPCR system design.

Value of 18F-3,4-dihydroxyphenylalanine PET/MR image fusion in pediatric supratentorial infiltrative astrocytomas: a prospective pilot study.

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction