C. Obringer

发表

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

A. Epanchintsev, J. Egly, A. Sarasin, 2020, Scientific Reports.

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

M. Seeliger, H. Dollfus, W. Lamers, 2012, The Journal of Biological Chemistry.

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

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

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

K. Clément, N. Petrovsky, H. Dollfus, 2020, Diabetes.

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

M. Kubota, A. Lehmann, D. Orioli, 2018, Journal of Medical Genetics.

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

N. Calmels, C. Obringer, V. Laugel, 2022, Frontiers in Genetics.

Diagnostic and severity scores for Cockayne syndrome

N. Calmels, C. Obringer, V. Laugel, 2021, Orphanet Journal of Rare Diseases.

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

B. Gener, C. Depienne, S. Julia, 2016, Orphanet Journal of Rare Diseases.

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

Benjamin Montagne, M. Ricchetti, S. Abdelhak, 2022, Orphanet Journal of Rare Diseases.

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

H. Dollfus, M. Scerbo, C. Obringer, 2015, Cilia.

Growth charts in Cockayne syndrome type 1 and type 2.

M. Kubota, P. Kang, S. Mohammed, 2020, European journal of medical genetics.

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

M. Ricchetti, N. Calmels, C. Obringer, 2021, Genes.

Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings

Benjamin Montagne, M. Ricchetti, S. Abdelhak, 2021 .

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.

N. Petrovsky, H. Dollfus, N. Messaddeq, 2012, Cell metabolism.

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

R. Favre, J. Chelly, N. Calmels, 2020, American journal of medical genetics. Part A.

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

A. Epanchintsev, J. Egly, A. Sarasin, 2020, Scientific Reports.

Renal disease in Cockayne syndrome.

K. Fieggen, K. Pillay, N. Calmels, 2019, European journal of medical genetics.

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

S. Julia, T. Félix, J. Chelly, 2020, Clinical genetics.

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Véronique Geoffroy, Corinne Stoetzel, Uwe Strähle, 2015, American journal of human genetics.

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

A. Urtti, H. Dollfus, O. Zelphati, 2021, Pharmaceutics.

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

H. Dollfus, N. Messaddeq, C. Obringer, 2019, Experimental eye research.

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

C. Redin, C. Mathis, C. Obringer, 2014, Clinical genetics.

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

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

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

C. Redin, C. Mathis, C. Obringer, 2014, Clinical Genetics.