Lista de obras -

1,2,3-Triazoles as inhibitors of indoleamine 2,3-dioxygenase 2 (IDO2)

artículo científico publicado en 2016

A computationally designed chimeric antigen receptor provides a small-molecule safety switch for T-cell therapy

artículo científico publicado en 2020

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

artículo científico publicado en 2014

All systems go: converging synthetic biology and combinatorial treatment for CAR-T cell therapy

scientific article published on 25 February 2020

Author Correction: A computationally designed chimeric antigen receptor provides a small-molecule safety switch for T-cell therapy

scientific article published on 01 April 2020

Best practices in peri-operative management of patients with skeletal dysplasias

artículo científico publicado en 2017

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

artículo científico publicado en 2018

Breast cancer genetics: unsolved questions and open perspectives in an expanding clinical practice

artículo científico publicado en 2004

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply

artículo científico publicado en 2019

CART cells are prone to Fas- and DR5-mediated cell death

artículo científico publicado en 2018

Cell-autonomous inflammation of BRCA1-deficient ovarian cancers drives both tumor-intrinsic immunoreactivity and immune resistance via STING

artículo científico publicado en 2021

Chondrodysplasia punctata: a clinical diagnostic and radiological review

scientific article published on October 2008

Clinical and genetic aspects of KBG syndrome.

artículo científico publicado en 2016

Clinical utility gene card for: 3-M syndrome - update 2013.

artículo científico publicado en 2013

Clinical utility gene card for: 3M syndrome

artículo científico

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

artículo científico publicado en 2008

Consensus guidelines for the use and interpretation of angiogenesis assays

article

Cooperation between Constitutive and Inducible Chemokines Enables T Cell Engraftment and Immune Attack in Solid Tumors

scientific article published on 01 June 2019

Correction to: CART cells are prone to Fas- and DR5-mediated cell death

artículo científico publicado en 2018

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

scientific journal article

De novo mutations in MLL cause Wiedemann-Steiner syndrome

artículo científico publicado en 2012

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases ⬇️

artículo científico publicado el 1 de diciembre de 2003

End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome

artículo científico publicado en 2016

Engineering Chimeric Antigen Receptor T-Cells for Racing in Solid Tumors: Don't Forget the Fuel

artículo científico publicado en 2017

Evidence for a TCR affinity threshold delimiting maximal CD8 T cell function.

artículo científico publicado en 2010

Exploring peptide mimics for the production of antibodies against discontinuous protein epitopes

artículo científico publicado en 2009

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

artículo científico publicado en 2007

In-Vivo Detection and Tracking of T Cells in Various Organs in a Melanoma Tumor Model by 19F-Fluorine MRS/MRI.

artículo científico publicado en 2016

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

artículo científico publicado en 2010

Interplay between T Cell Receptor Binding Kinetics and the Level of Cognate Peptide Presented by Major Histocompatibility Complexes Governs CD8+ T Cell Responsiveness ⬇️

artículo científico publicado el 29 de junio de 2012

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

artículo científico publicado en 2016

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

artículo científico publicado en 2011

Neonatal teeth in X-linked Opitz (G/BBB) syndrome

artículo científico publicado en 2006

Optimized gene engineering of murine CAR-T cells reveals the beneficial effects of IL-15 coexpression

artículo científico publicado en 2021

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

artículo científico publicado en 2019

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome ⬇️

artículo científico publicado el 7 de febrero de 2013

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

artículo científico publicado en 2016

Reversible major histocompatibility complex I-peptide multimers containing Ni(2+)-nitrilotriacetic acid peptides and histidine tags improve analysis and sorting of CD8(+) T cells

artículo científico publicado en 2011

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

artículo científico publicado en 2016

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

Sensitive identification of neoantigens and cognate TCRs in human solid tumors

artículo científico publicado en 2021

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

artículo científico publicado en 2011

Structure of a high-affinity "mimotope" peptide bound to HIV-1-neutralizing antibody b12 explains its inability to elicit gp120 cross-reactive antibodies

artículo científico publicado en 2007

Structure-Based, Rational Design of T Cell Receptors ⬇️

artículo científico publicado el 12 de septiembre de 2013

T cells bearing a chimeric antigen receptor against prostate-specific membrane antigen mediate vascular disruption and result in tumor regression.

artículo científico publicado en 2014

TCRep 3D: an automated in silico approach to study the structural properties of TCR repertoires

artículo científico publicado en 2011

Targeting the tumor vasculature to enhance T cell activity

artículo científico publicado en 2015

The T-Cell Receptor Can Bind to the Peptide-Bound Major Histocompatibility Complex and Uncomplexed β2-Microglobulin through Distinct Binding Sites.

artículo científico publicado en 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation

artículo científico publicado en 2011

miR-155 Overexpression in OT-1 CD8+ T Cells Improves Anti-Tumor Activity against Low-Affinity Tumor Antigen

artículo científico publicado en 2019

Lista de obras de

1,2,3-Triazoles as inhibitors of indoleamine 2,3-dioxygenase 2 (IDO2)

A computationally designed chimeric antigen receptor provides a small-molecule safety switch for T-cell therapy

A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings

All systems go: converging synthetic biology and combinatorial treatment for CAR-T cell therapy

Author Correction: A computationally designed chimeric antigen receptor provides a small-molecule safety switch for T-cell therapy

Best practices in peri-operative management of patients with skeletal dysplasias

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

Breast cancer genetics: unsolved questions and open perspectives in an expanding clinical practice

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply

CART cells are prone to Fas- and DR5-mediated cell death

Cell-autonomous inflammation of BRCA1-deficient ovarian cancers drives both tumor-intrinsic immunoreactivity and immune resistance via STING

Chondrodysplasia punctata: a clinical diagnostic and radiological review

Clinical and genetic aspects of KBG syndrome.

Clinical utility gene card for: 3-M syndrome - update 2013.

Clinical utility gene card for: 3M syndrome

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

Consensus guidelines for the use and interpretation of angiogenesis assays

Cooperation between Constitutive and Inducible Chemokines Enables T Cell Engraftment and Immune Attack in Solid Tumors

Correction to: CART cells are prone to Fas- and DR5-mediated cell death

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

De novo mutations in MLL cause Wiedemann-Steiner syndrome

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases ⬇️

End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome

Engineering Chimeric Antigen Receptor T-Cells for Racing in Solid Tumors: Don't Forget the Fuel

Evidence for a TCR affinity threshold delimiting maximal CD8 T cell function.

Exploring peptide mimics for the production of antibodies against discontinuous protein epitopes

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

In-Vivo Detection and Tracking of T Cells in Various Organs in a Melanoma Tumor Model by 19F-Fluorine MRS/MRI.

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

Interplay between T Cell Receptor Binding Kinetics and the Level of Cognate Peptide Presented by Major Histocompatibility Complexes Governs CD8+ T Cell Responsiveness ⬇️

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Neonatal teeth in X-linked Opitz (G/BBB) syndrome

Optimized gene engineering of murine CAR-T cells reveals the beneficial effects of IL-15 coexpression

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome ⬇️

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

Reversible major histocompatibility complex I-peptide multimers containing Ni(2+)-nitrilotriacetic acid peptides and histidine tags improve analysis and sorting of CD8(+) T cells

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14

Sensitive identification of neoantigens and cognate TCRs in human solid tumors

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome

Structure of a high-affinity "mimotope" peptide bound to HIV-1-neutralizing antibody b12 explains its inability to elicit gp120 cross-reactive antibodies

Structure-Based, Rational Design of T Cell Receptors ⬇️

T cells bearing a chimeric antigen receptor against prostate-specific membrane antigen mediate vascular disruption and result in tumor regression.

TCRep 3D: an automated in silico approach to study the structural properties of TCR repertoires

Targeting the tumor vasculature to enhance T cell activity

The T-Cell Receptor Can Bind to the Peptide-Bound Major Histocompatibility Complex and Uncomplexed β2-Microglobulin through Distinct Binding Sites.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation

miR-155 Overexpression in OT-1 CD8+ T Cells Improves Anti-Tumor Activity against Low-Affinity Tumor Antigen