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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.
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.
Journal articles
hal-03278573v1
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AnnotSV: An integrated tool for Structural Variations annotation
Véronique Geoffroy
,
Yvan Herenger
,
Arnaud Kress
,
Corinne Stoetzel
,
Amélie Piton
,
et al.
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.
Journal articles
hal-03618033v1
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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 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.
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.
Journal articles
hal-03678712v1
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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.
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
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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.
Journal articles
istex
inserm-00438668v1
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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.
Journal articles
inserm-00436454v1
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Syndrôme de Bardet-Biedl : une famille unique pour un gène majeur ( BBS10 )
Hélène Dollfus
,
Jean Muller
,
Corinne Stoetzel
,
Virginie Laurier
,
Dominique Bonneau
,
et al.
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.
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.
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.
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.
Journal articles
pasteur-00663885v1
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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.
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.
Journal articles
hal-03007093v1
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Non-USH2A mutations in USH2 patients.
Thomas Besnard
,
Christel Vaché
,
David Baux
,
Lise Larrieu
,
Caroline Abadie
,
et al.
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.
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.
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 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.
Journal articles
hal-02268419v1
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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.
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.
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 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.
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.
Journal articles
hal-02304111v1
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