Lista de obras -

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

artículo científico publicado en 2013

Abnormal hepatocellular mitochondria in methylmalonic acidemia

artículo científico publicado en 2014

Allelic phasing of a mouse chromosome 11 deficiency influences p53 tumorigenicity

scientific article published on 01 May 2003

Arterial spin-labeled perfusion of pediatric brain tumors.

artículo científico publicado en 2013

Atypical and rare variants of central neurocytomas

artículo científico

Atypical teratoid/rhabdoid tumor with ganglioglioma-like differentiation: case report and review of the literature

artículo científico publicado en 2013

Brain abscess caused by Phaeoacremonium parasiticum in an immunocompromised patient.

scientific article published on 29 December 2010

Burden of proof in the postmortem diagnosis of mitochondrial disease: Leigh disease

artículo científico publicado en 2004

CHD5 is a tumor suppressor at human 1p36

scientific journal article

CNS T-cell lymphoma: an under-recognized entity?

artículo científico publicado en 2008

COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast

artículo científico publicado en 2003

Cancer predisposition caused by elevated mitotic recombination in Bloom mice

artículo científico publicado en 2000

Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.

artículo científico publicado en 2013

Characterization of the integrin alpha v beta3 in arteriovenous malformations and cavernous malformations.

artículo científico publicado en 2005

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

artículo científico publicado en 2004

Composite pleomorphic xanthoastrocytoma-epithelioid glioneuronal tumor with BRAF V600E mutation - report of three cases

artículo científico publicado en 2014

Congenital glioblastoma multiforme: case report and review of the literature.

artículo científico publicado en 2008

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

artículo científico publicado en 2014

Cooperativity of p19ARF, Mdm2, and p53 in murine tumorigenesis

artículo científico publicado en 2003

Cytogenetic analysis of 120 primary pediatric brain tumors and literature review ⬇️

artículo científico publicado el 1 de agosto de 1997

Deep Learning for Pediatric Posterior Fossa Tumor Detection and Classification: A Multi-Institutional Study

scientific article published on 13 August 2020

Deficiency of the p53/p63 target Perp alters mammary gland homeostasis and promotes cancer.

artículo científico publicado en 2012

Deleting Ku70 is milder than deleting Ku80 in p53-mutant mice and cells.

artículo científico publicado en 2009

Deletion of Brca2 exon 27 causes hypersensitivity to DNA crosslinks, chromosomal instability, and reduced life span in mice.

artículo científico publicado en 2003

Deletion of Ku70, Ku80, or both causes early aging without substantially increased cancer

artículo científico publicado en 2007

Deletion of Ku86 causes early onset of senescence in mice

artículo científico publicado en 1999

Diffusion-weighted MRI derived apparent diffusion coefficient identifies prognostically distinct subgroups of pediatric diffuse intrinsic pontine glioma

artículo científico publicado en 2014

Diffusion-weighted MRI: distinction of skull base chordoma from chondrosarcoma.

artículo científico publicado en 2012

Distinctive MRI features of pediatric medulloblastoma subtypes.

artículo científico publicado en 2013

Distinguishing chordoid meningiomas from their histologic mimics: an immunohistochemical evaluation.

artículo científico publicado en 2009

EGFRvIII gene rearrangement is an early event in glioblastoma tumorigenesis and expression defines a hierarchy modulated by epigenetic mechanisms.

artículo científico publicado en 2012

Effects of genetic background on tumorigenesis in p53-deficient mice

scientific article published on 01 September 1995

Ex vivo Evans blue assessment of the blood brain barrier in three breast cancer brain metastasis models.

artículo científico publicado en 2014

Functional interactions between retinoblastoma and c-MYC in a mouse model of hepatocellular carcinoma.

artículo científico publicado en 2011

G1 arrest and differentiation can occur independently of Rb family function ⬇️

artículo científico publicado el 8 de noviembre de 2010

GD2-CAR T cell therapy for H3K27M-mutated diffuse midline gliomas

artículo científico publicado en 2022

Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.

artículo científico publicado en 2006

Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway

artículo científico publicado en 2005

Hedgehog-responsive candidate cell of origin for diffuse intrinsic pontine glioma

artículo científico publicado en 2011

Hematopoietic cells maintain hematopoietic fates upon entering the brain.

artículo científico publicado en 2005

Highly proliferative sellar chordoma with unusually rapid recurrence.

artículo científico publicado en 2012

Inhibition of vasculogenesis, but not angiogenesis, prevents the recurrence of glioblastoma after irradiation in mice.

artículo científico publicado en 2010

Input-specific immunolocalization of differentially phosphorylated Kv4.2 in the mouse brain

scientific journal article

Intraventricular metaplastic meningioma in a child: case report and review of the literature.

artículo científico publicado en 2009

Ku80 and p53 suppress medulloblastoma that arise independent of Rag-1-induced DSBs.

artículo científico publicado en 2006

Late profound muscle weakness following heart transplantation due to Danon disease.

artículo científico publicado en 2012

Lineage-specific splicing of a brain-enriched alternative exon promotes glioblastoma progression

artículo científico publicado en 2014

Liposomal cytarabine for central nervous system embryonal tumors in children and young adults

artículo científico publicado en 2010

Loss of the p53/p63 Regulated Desmosomal Protein Perp Promotes Tumorigenesis ⬇️

artículo científico publicado el 21 de octubre de 2010

MRI surrogates for molecular subgroups of medulloblastoma.

artículo científico publicado en 2014

Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin

artículo científico publicado en 2006

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

artículo científico publicado en 2003

Monosomy of chromosome 10 associated with dysregulation of epidermal growth factor signaling in glioblastomas.

artículo científico publicado en 2009

Muscle lymphocytic infiltrates in thymoma-associated myasthenia gravis are phenotypically different from those in polymyositis.

artículo científico publicado en 2007

NF90 regulates cell cycle exit and terminal myogenic differentiation by direct binding to the 3'-untranslated region of MyoD and p21WAF1/CIP1 mRNAs.

artículo científico publicado en 2005

NFKBIADeletion in Glioblastomas ⬇️

artículo científico publicado el 22 de diciembre de 2010

Neuronal pentraxin, a secreted protein with homology to acute phase proteins of the immune system

scientific article published on 01 March 1995

Notch signaling inhibits hepatocellular carcinoma following inactivation of the RB pathway.

artículo científico publicado en 2011

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis ⬇️

artículo científico publicado el 1 de diciembre de 2003

Occult pigmented ganglioglioma in an adult male with chronic posttraumatic epilepsy.

artículo científico publicado en 2013

Pilocytic astrocytoma with IDH1 mutation in the cerebellum of an elderly patient.

artículo científico publicado en 2015

Pilomyxoid Astrocytoma (PMA) Shows Significant Differences in Gene Expression vs. Pilocytic Astrocytoma (PA) and Variable Tendency Toward Maturation to PA.

artículo científico publicado en 2015

Pituitary stalk Langerhans cell histiocytosis treated with CyberKnife radiosurgery.

artículo científico publicado en 2012

Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.

artículo científico publicado en 2016

Primary pediatric skull tumors.

artículo científico

Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

artículo científico publicado en 2008

Recessive dystrophic epidermolysis bullosa associated with mesangioproliferative glomerulonephritis and multifocal necrotizing leucoencephalopathy of the pons

scientific article published on 01 December 2004

Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation

artículo científico publicado en 1998

Retrosellar intracranial extracerebral glioneuronal heterotopion: case report

artículo científico publicado el 1 de septiembre de 2010

Several E4 region functions influence mammary tumorigenesis by human adenovirus type 9

artículo científico publicado en 2001

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

artículo científico publicado en 2008

Smad5 is essential for left-right asymmetry in mice.

artículo científico publicado en 2000

Spinal pilocytic astrocytoma in an elderly patient.

artículo científico publicado en 2011

Subventricular spread of diffuse intrinsic pontine glioma

artículo científico publicado en 2014

Targeting a glioblastoma cancer stem-cell population defined by EGF receptor variant III.

artículo científico publicado en 2013

Tectal pineal cyst in a 1-year-old girl.

artículo científico publicado en 2013

The pro-longevity gene FoxO3 is a direct target of the p53 tumor suppressor.

artículo científico publicado en 2011

Unimpaired skin carcinogenesis in Desmoglein 3 knockout mice.

artículo científico publicado en 2012

Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature.

artículo científico publicado en 2005

Visual genotyping of a coat color tagged p53 mutant mouse line

artículo científico publicado en 2002

Wnt-mediated self-renewal of neural stem/progenitor cells.

artículo científico publicado en 2008

alpha(v)beta(3) Integrin in central nervous system tumors.

artículo científico publicado en 2005

p63 heterozygous mutant mice are not prone to spontaneous or chemically induced tumors.

artículo científico publicado en 2006

Lista de obras de

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

Abnormal hepatocellular mitochondria in methylmalonic acidemia

Allelic phasing of a mouse chromosome 11 deficiency influences p53 tumorigenicity

Arterial spin-labeled perfusion of pediatric brain tumors.

Atypical and rare variants of central neurocytomas

Atypical teratoid/rhabdoid tumor with ganglioglioma-like differentiation: case report and review of the literature

Brain abscess caused by Phaeoacremonium parasiticum in an immunocompromised patient.

Burden of proof in the postmortem diagnosis of mitochondrial disease: Leigh disease

CHD5 is a tumor suppressor at human 1p36

CNS T-cell lymphoma: an under-recognized entity?

COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast

Cancer predisposition caused by elevated mitotic recombination in Bloom mice

Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis.

Characterization of the integrin alpha v beta3 in arteriovenous malformations and cavernous malformations.

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

Composite pleomorphic xanthoastrocytoma-epithelioid glioneuronal tumor with BRAF V600E mutation - report of three cases

Congenital glioblastoma multiforme: case report and review of the literature.

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

Cooperativity of p19ARF, Mdm2, and p53 in murine tumorigenesis

Cytogenetic analysis of 120 primary pediatric brain tumors and literature review ⬇️

Deep Learning for Pediatric Posterior Fossa Tumor Detection and Classification: A Multi-Institutional Study

Deficiency of the p53/p63 target Perp alters mammary gland homeostasis and promotes cancer.

Deleting Ku70 is milder than deleting Ku80 in p53-mutant mice and cells.

Deletion of Brca2 exon 27 causes hypersensitivity to DNA crosslinks, chromosomal instability, and reduced life span in mice.

Deletion of Ku70, Ku80, or both causes early aging without substantially increased cancer

Deletion of Ku86 causes early onset of senescence in mice

Diffusion-weighted MRI derived apparent diffusion coefficient identifies prognostically distinct subgroups of pediatric diffuse intrinsic pontine glioma

Diffusion-weighted MRI: distinction of skull base chordoma from chondrosarcoma.

Distinctive MRI features of pediatric medulloblastoma subtypes.

Distinguishing chordoid meningiomas from their histologic mimics: an immunohistochemical evaluation.

EGFRvIII gene rearrangement is an early event in glioblastoma tumorigenesis and expression defines a hierarchy modulated by epigenetic mechanisms.

Effects of genetic background on tumorigenesis in p53-deficient mice

Ex vivo Evans blue assessment of the blood brain barrier in three breast cancer brain metastasis models.

Functional interactions between retinoblastoma and c-MYC in a mouse model of hepatocellular carcinoma.

G1 arrest and differentiation can occur independently of Rb family function ⬇️

GD2-CAR T cell therapy for H3K27M-mutated diffuse midline gliomas

Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.

Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway

Hedgehog-responsive candidate cell of origin for diffuse intrinsic pontine glioma

Hematopoietic cells maintain hematopoietic fates upon entering the brain.

Highly proliferative sellar chordoma with unusually rapid recurrence.

Inhibition of vasculogenesis, but not angiogenesis, prevents the recurrence of glioblastoma after irradiation in mice.

Input-specific immunolocalization of differentially phosphorylated Kv4.2 in the mouse brain

Intraventricular metaplastic meningioma in a child: case report and review of the literature.

Ku80 and p53 suppress medulloblastoma that arise independent of Rag-1-induced DSBs.

Late profound muscle weakness following heart transplantation due to Danon disease.

Lineage-specific splicing of a brain-enriched alternative exon promotes glioblastoma progression

Liposomal cytarabine for central nervous system embryonal tumors in children and young adults

Loss of the p53/p63 Regulated Desmosomal Protein Perp Promotes Tumorigenesis ⬇️

MRI surrogates for molecular subgroups of medulloblastoma.

Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila Pink1 is rescued by Parkin

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

Monosomy of chromosome 10 associated with dysregulation of epidermal growth factor signaling in glioblastomas.

Muscle lymphocytic infiltrates in thymoma-associated myasthenia gravis are phenotypically different from those in polymyositis.

NF90 regulates cell cycle exit and terminal myogenic differentiation by direct binding to the 3'-untranslated region of MyoD and p21WAF1/CIP1 mRNAs.

NFKBIADeletion in Glioblastomas ⬇️

Neuronal pentraxin, a secreted protein with homology to acute phase proteins of the immune system

Notch signaling inhibits hepatocellular carcinoma following inactivation of the RB pathway.

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis ⬇️

Occult pigmented ganglioglioma in an adult male with chronic posttraumatic epilepsy.

Pilocytic astrocytoma with IDH1 mutation in the cerebellum of an elderly patient.

Pilomyxoid Astrocytoma (PMA) Shows Significant Differences in Gene Expression vs. Pilocytic Astrocytoma (PA) and Variable Tendency Toward Maturation to PA.

Pituitary stalk Langerhans cell histiocytosis treated with CyberKnife radiosurgery.

Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis.

Primary pediatric skull tumors.

Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

Recessive dystrophic epidermolysis bullosa associated with mesangioproliferative glomerulonephritis and multifocal necrotizing leucoencephalopathy of the pons

Retention of wild-type p53 in tumors from p53 heterozygous mice: reduction of p53 dosage can promote cancer formation

Retrosellar intracranial extracerebral glioneuronal heterotopion: case report

Several E4 region functions influence mammary tumorigenesis by human adenovirus type 9

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Smad5 is essential for left-right asymmetry in mice.

Spinal pilocytic astrocytoma in an elderly patient.

Subventricular spread of diffuse intrinsic pontine glioma

Targeting a glioblastoma cancer stem-cell population defined by EGF receptor variant III.

Tectal pineal cyst in a 1-year-old girl.

The pro-longevity gene FoxO3 is a direct target of the p53 tumor suppressor.

Unimpaired skin carcinogenesis in Desmoglein 3 knockout mice.

Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature.