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The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina

RNA (Cambridge), 2012-01, Vol.18 (1), p.111-123

2012

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EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones

PloS one, 2016-11, Vol.11 (11), p.e0166397-e0166397

2016

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Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

PLoS genetics, 2020-04, Vol.16 (4), p.e1008721-e1008721

2020

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TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene

PloS one, 2016-02, Vol.11 (2), p.e0148678-e0148678

2016

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Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye

Development (Cambridge), 2011-01, Vol.138 (2), p.261-271

2011

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Expression of PRPF31 and TFPT: regulation in health and retinal disease

Human molecular genetics, 2012-09, Vol.21 (18), p.4126-4137

2012

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Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

International journal of molecular sciences, 2013-07, Vol.14 (7), p.15121-15140

2013

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Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma

Development (Cambridge), 2002-02, Vol.129 (3), p.805-813

2002

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The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

BMC medical genetics, 2012-03, Vol.13 (1), p.20-20, Article 20

2012

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The role of TXNIP in cancer: a fine balance between redox, metabolic, and immunological tumor control

British journal of cancer, 2023-12, Vol.129 (12), p.1877-1892

2023

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Chapter 6.3. Studies on Hepatic Metabolic Disorders Driven by ESPGHAN Members: The Case of Alpha1-Antitrypsin Deficiency, Cystic Fibrosis, and Urea Cycle Defects

Journal of pediatric gastroenterology and nutrition, 2018-04, Vol.66 Suppl 1 (S1), p.S129

2018

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Chapter 6.3. Studies on Hepatic Metabolic Disorders Driven by ESPGHAN Members

Journal of pediatric gastroenterology and nutrition, 2018-04, Vol.66, p.S129-S133

2018

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Chapter 6.3. Studies on Hepatic Metabolic Disorders Driven by ESPGHAN Members: The Case of Alpha1-Antitrypsin Deficiency, Cystic Fibrosis, and Urea Cycle Defects

Journal of pediatric gastroenterology and nutrition, 2018-04, Vol.66 Suppl 1, p.S129-S133

2018

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First insights into the expression of VAX2 in humans and its localization in the adult primate retina

Experimental eye research, 2016-07, Vol.148, p.24-29

2016

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The use of exosome and immune profiling to analyze a phase 2 study on the addition of patritumab or placebo to cetuximab and a platinum agent for recurrent / metastatic head and neck cancer (R/M HNSCC) patients

Journal of clinical oncology, 2018-05, Vol.36 (15_suppl), p.6043-6043

2018

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Chapter 6. ESPGHANʼs Contributions to Paediatric Hepatology

Journal of pediatric gastroenterology and nutrition, 2018-04, Vol.66 Suppl 1, p.S116-S116

2018

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Chapter 6. ESPGHAN's Contributions to Paediatric Hepatology

Journal of pediatric gastroenterology and nutrition, 2018-04, Vol.66 (S1), p.S116-S116

2018

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Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy

Ophthalmic genetics, 2018-08, Vol.39 (4), p.539-543

2018

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Natural antisense transcripts associated with genes involved in eye development

Human molecular genetics, 2005-04, Vol.14 (7), p.913-923

2005

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Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma

BMC medical genomics, 2016-03, Vol.9 (1), p.15-15, Article 15

2016

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TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene: e0148678

PloS one, 2016-02, Vol.11 (2)

2016

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Identification and expression analysis of novel Jakmip1 transcripts

Gene, 2007-11, Vol.402 (1), p.1-8

2007

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Identification and characterisation of the retinitis pigmentosa 1-like1 gene ( ): a novel candidate for retinal degenerations

European journal of human genetics : EJHG, 2003-02, Vol.11 (2), p.155-162

2003

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The long noncoding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina

Predicting progression-free survival after systemic therapy in advanced head and neck cancer: Bayesian regression and model development

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene

Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye

Expression of PRPF31 and TFPT: regulation in health and retinal disease

Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

The role of TXNIP in cancer: a fine balance between redox, metabolic, and immunological tumor control

Chapter 6.3. Studies on Hepatic Metabolic Disorders Driven by ESPGHAN Members: The Case of Alpha1-Antitrypsin Deficiency, Cystic Fibrosis, and Urea Cycle Defects

Chapter 6.3. Studies on Hepatic Metabolic Disorders Driven by ESPGHAN Members

Chapter 6.3. Studies on Hepatic Metabolic Disorders Driven by ESPGHAN Members: The Case of Alpha1-Antitrypsin Deficiency, Cystic Fibrosis, and Urea Cycle Defects

The MondoA-dependent TXNIP/GDF15 axis predicts oxaliplatin response in colorectal adenocarcinomas

First insights into the expression of VAX2 in humans and its localization in the adult primate retina

The use of exosome and immune profiling to analyze a phase 2 study on the addition of patritumab or placebo to cetuximab and a platinum agent for recurrent / metastatic head and neck cancer (R/M HNSCC) patients

Chapter 6. ESPGHANʼs Contributions to Paediatric Hepatology

Chapter 6. ESPGHAN's Contributions to Paediatric Hepatology

Identification and characterization of the VAX2 p.Leu139Arg variant: possible involvement of VAX2 in cone dystrophy

Natural antisense transcripts associated with genes involved in eye development

Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma

TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene: e0148678

Identification and expression analysis of novel Jakmip1 transcripts

Identification and characterisation of the retinitis pigmentosa 1-like1 gene ( ): a novel candidate for retinal degenerations

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