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authFullName_s : Hélène Dollfus

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

David Parry , Alan J. Mighell , Walid El-Sayed , Roger C. Shore , Ismail K. Jalili , et al.
American Journal of Human Genetics, 2009, 84 (2), pp.266-73. ⟨10.1016/j.ajhg.2009.01.009⟩
Journal articles inserm-00384526v1
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Kidney involvement in Bardet-Biedl syndrome: urinary concentrating defects highlight the major role of primary cilium in water reabsorption

Charlie de Melo , Anais Mockel , Corinne Stoetzel , Vincent Marion , Hélène Dollfus
First International Cilia in Development and Disease Scientific Conference, pp.O5
Conference papers inserm-00752962v1
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Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

Vasily Smirnov , Olivier Grunewald , Jean Muller , Christina Zeitz , Carolin D Obermaier , et al.
International Journal of Molecular Sciences, 2021, 22 (12), pp.6410. ⟨10.3390/ijms22126410⟩
Journal articles hal-03278573v1

AnnotSV: An integrated tool for Structural Variations annotation

Véronique Geoffroy , Yvan Herenger , Arnaud Kress , Corinne Stoetzel , Amélie Piton , et al.
Bioinformatics, 2018, 34 (20), pp.3572-3574. ⟨10.1093/bioinformatics/bty304⟩
Journal articles hal-03663159v1
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Insights into ciliary genes and evolution from multi-level phylogenetic profiling

Yannis Nevers , Megana Prasad , Laetitia Poidevin , Kirsley Chennen , Alexis Allot , et al.
Molecular Biology and Evolution, 2017, 34 (8), pp.2016-2034. ⟨10.1093/molbev/msx146⟩
Journal articles hal-03618033v1

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Sylvain Blanchon , Marie Legendre , Bruno Copin , Philippe Duquesnoy , Guy Montantin , et al.
Journal of Medical Genetics, 2012, 49 (6), pp.410-416. ⟨10.1136/jmedgenet-2012-100867⟩
Journal articles istex inserm-03888840v1
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One NF1 Mutation may Conceal Another

Laurence Pacot , Cyril Burin Des Roziers , Ingrid Laurendeau , Audrey Briand-Suleau , Audrey Coustier , et al.
Genes, 2019, 10 (9), pp.633. ⟨10.3390/genes10090633⟩
Journal articles hal-02436873v1
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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol

Catherine Lejeune , Charley Robert-Viard , Nicolas Meunier-Beillard , Myriam Alice Borel , Léna Gourvès , et al.
Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩
Journal articles hal-03678712v1

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Jean Muller , Corinne Stoetzel , Marie-Claire Vincent , Carmen C Leitch , Virginie Laurier , et al.
Human Genetics, 2010, 127 (5), pp.583-93. ⟨10.1007/s00439-010-0804-9⟩
Journal articles inserm-00462147v1
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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

Vincent Marion , Corinne Stoetzel , Dominique Schlicht , Nadia Messaddeq , Michael Koch , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (6), pp.1820-5. ⟨10.1073/pnas.0812518106⟩
Journal articles inserm-00370150v1

Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

Corinne Stoetzel , Sophie Riehm , Valérie Bennouna Greene , V. Pelletier , Jacqueline Vigneron , et al.
American Journal of Medical Genetics Part A, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩
Journal articles istex inserm-00438668v1

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Vincent Laugel , Cécile Dalloz , M. Durand , Florence Sauvanaud , Hans-Ulrik Kristensen , et al.
Human Mutation, 2010, 31 (2), pp.113-26. ⟨10.1002/humu.21154⟩
Journal articles inserm-00436454v1

Syndrôme de Bardet-Biedl : une famille unique pour un gène majeur ( BBS10 )

Hélène Dollfus , Jean Muller , Corinne Stoetzel , Virginie Laurier , Dominique Bonneau , et al.
Médecine/Sciences, 2006, 22 (11), pp.901-904. ⟨10.1051/medsci/20062211901⟩
Journal articles hal-04092606v1
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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

Pierre-Henry Gabrielle , Laurence Faivre , Isabelle Audo , Xavier Zanlonghi , Hélène Dollfus , et al.
Scientific Reports, 2021, 11 (1), pp.16412. ⟨10.1038/s41598-021-95743-8⟩
Journal articles hal-03321137v1
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A possible cranio-oro-facial phenotype in Cockayne syndrome.

Agnès Bloch-Zupan , Morgan Rousseaux , Virginie Laugel , Matthieu Schmittbuhl , Rémy Mathis , et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.9. ⟨10.1186/1750-1172-8-9⟩
Journal articles inserm-00799545v1
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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Ariane Kröll-Hermi , Frédéric Ebstein , Corinne Stoetzel , Véronique Geoffroy , Elise Schaefer , et al.
EMBO Molecular Medicine, 2020, 12 (7), ⟨10.15252/emmm.201911861⟩
Journal articles hal-02903912v1
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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Crystel Bonnet , M'Hamed Grati , Sandrine Marlin , Jacqueline Levilliers , Jean-Pierre Hardelin , et al.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩
Journal articles pasteur-00663885v1

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Marc Ferré , Dominique Bonneau , Dan Milea , Arnaud Chevrollier , Christophe Verny , et al.
Human Mutation, 2009, 30 (7), pp.E692-705. ⟨10.1002/humu.21025⟩
Journal articles inserm-00372261v1
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

Clarisse Delvallée , Samuel Nicaise , Manuela Antin , Anne-Sophie Leuvrey , Elsa Nourisson , et al.
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Journal articles hal-03007093v1

Non-USH2A mutations in USH2 patients.

Thomas Besnard , Christel Vaché , David Baux , Lise Larrieu , Caroline Abadie , et al.
Human Mutation, 2012, 33 (3), pp.504-10. ⟨10.1002/humu.22004⟩
Journal articles inserm-00650795v1
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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.

Sandy Léger , Xavier Balguerie , Alice Goldenberg , Valérie Drouin-Garraud , Annick Cabot , et al.
European Journal of Human Genetics, 2012, 20 (5), pp.584-7. ⟨10.1038/ejhg.2011.234⟩
Journal articles inserm-00696260v1
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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Chris Balak , Marianne Bénard , Elise Schaefer , Sumaiya Iqbal , Keri Ramsey , et al.
American Journal of Human Genetics, 2019, 105 (3), pp.509-525. ⟨10.1016/j.ajhg.2019.07.010⟩
Journal articles hal-02271087v1
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Reproduction Function in Male Patients With Bardet Biedl Syndrome

Isabelle Koscinski , Manuel Mark , Nadia Messaddeq , Jean Jacques Braun , Catherine Celebi , et al.
Journal of Clinical Endocrinology and Metabolism, 2020, 105 (12), pp.e4417-e4429. ⟨10.1210/clinem/dgaa551⟩
Journal articles hal-03663322v1
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

Henri Margot , Guilaine Boursier , Claire Duflos , Elodie Sanchez , Jeanne Amiel , et al.
Genetics in Medicine, 2020, 22 (1), pp.181-188. ⟨10.1038/s41436-019-0623-x⟩
Journal articles hal-02268419v1

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Sébastien Albert , Hélène Blons , Laurence Jonard , Delphine Feldmann , Pierre Chauvin , et al.
European Journal of Human Genetics, 2006, 14 (6), pp.773-9. ⟨10.1038/sj.ejhg.5201611⟩
Journal articles inserm-00102388v1
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Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance.

Tarekegn Geberhiwot , Shanat Baig , Cathy Obringer , Dorothée Girard , Charlotte Dawson , et al.
Diabetes, 2021, 70 (2), pp.364-376. ⟨10.2337/db20-0647⟩
Journal articles hal-03708072v1
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Novel FH mutations in families with hereditary leiomyomatosis renal cell cancer (HLRCC) and in patients with isolated type 2 papillary renal cell carcinoma

Betty Gardie , Audrey Remenieras , Darouna Kattygnarath , Johny Bombled , Sandrine Lefèvre , et al.
Journal of Medical Genetics, 2011, 48 (4), pp.226. ⟨10.1136/jmg.2010.085068⟩
Journal articles hal-00614499v1
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Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Hélène Mayeur , Olivier Roche , Christelle Vêtu , Carolina Jaliffa , Dominique Marchant , et al.
BMC Medical Genetics, 2006, 7, pp.41. ⟨10.1186/1471-2350-7-41⟩
Journal articles inserm-00080394v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre , Véronique Abadie , Tania Attié-Bitach , Nicole Philip , Tiffany Busa , et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
Journal articles hal-01691932v1
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Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

Alejandro Estrada-Cuzcano , Christelle Etard , Clarisse Delvallée , Corinne Stoetzel , Elise Schaefer , et al.
Human Mutation, 2019, ⟨10.1002/humu.23924⟩
Journal articles hal-02304111v1