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Non‐invasive, needle‐free drug delivery for treatment of retinal degeneration on Bardet‐Biedl syndrome

Acta ophthalmologica (Oxford, England), 2019-12, Vol.97 (S263), p.n/a

2019

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Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.121-121, Article 121

2022

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Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

Scientific reports, 2020-01, Vol.10 (1), p.1105-1105, Article 1105

2020

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BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

Cell metabolism, 2012-09, Vol.16 (3), p.363-377

2012

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Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B

Frontiers in genetics, 2022-02, Vol.13, p.762047-762047

2022

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Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice

Pharmaceutics, 2021-10, Vol.13 (10), p.1650

2021

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Growth charts in Cockayne syndrome type 1 and type 2

European journal of medical genetics, 2021-01, Vol.64 (1), p.104105-104105, Article 104105

2021

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Orphanet journal of rare diseases, 2016-03, Vol.11 (1), p.26-26, Article 26

2016

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PATAS, a First-in-Class Therapeutic Peptide Biologic, Improves Whole-Body Insulin Resistance and Associated Comorbidities In Vivo

Diabetes (New York, N.Y.), 2022-09, Vol.71 (9), p.2034-2047

2022

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Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Journal of medical genetics, 2018-05, Vol.55 (5), p.329-343

2018

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Diagnostic and severity scores for Cockayne syndrome

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.63-63, Article 63

2021

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Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance

Diabetes (New York, N.Y.), 2021-02, Vol.70 (2), p.364-376

2021

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In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies

Experimental eye research, 2019-09, Vol.186, p.107721, Article 107721

2019

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Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

American journal of human genetics, 2015-04, Vol.96 (4), p.666-674

2015

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Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

European journal of human genetics : EJHG, 2018-04, Vol.26 (4), p.527-536

2018

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Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

Clinical genetics, 2020-09, Vol.98 (3), p.251-260

2020

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Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability

The Journal of biological chemistry, 2012-10, Vol.287 (44), p.37483-37494

2012

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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B

Genes, 2021-11, Vol.12 (12), p.1922

2021

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Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations

Clinical genetics, 2014-05, Vol.85 (5), p.476-481

2014

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Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.1236-1242

2020

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Clinical and Mutation Spectra of Cockayne Syndrome in India

Neurology India, 2021-03, Vol.69 (2), p.362-366

2021

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Renal disease in Cockayne syndrome

European journal of medical genetics, 2020-01, Vol.63 (1), p.103612-103612, Article 103612

2020

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Mutations in TUBGCP4 Alter Microtubule Organization via the ?-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

American journal of human genetics, 2015-04, Vol.96 (4), p.666

2015

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Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

Cilia (London), 2015-08, Vol.4 (1), p.10-10, Article 10

2015

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ALMS1 acts as a critical molecular switch that controls Insulin-stimulated glucose transport in adipocytes

Endocrine Abstracts, 2016-10

2016

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Non‐invasive, needle‐free drug delivery for treatment of retinal degeneration on Bardet‐Biedl syndrome

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome

BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B

Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice

Growth charts in Cockayne syndrome type 1 and type 2

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

PATAS, a First-in-Class Therapeutic Peptide Biologic, Improves Whole-Body Insulin Resistance and Associated Comorbidities In Vivo

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Diagnostic and severity scores for Cockayne syndrome

Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance

In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

Early‐onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling

Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

Clinical and Mutation Spectra of Cockayne Syndrome in India

Renal disease in Cockayne syndrome

Mutations in TUBGCP4 Alter Microtubule Organization via the ?-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

ALMS1 acts as a critical molecular switch that controls Insulin-stimulated glucose transport in adipocytes

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