Recherche - Université de Bourgogne Accéder directement au contenu

Filtrer vos résultats

172 Résultats
Structure : Identifiant HAL de la structure : 157792

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Julien Thevenon , Yannis Duffourd , Alice Masurel-Paulet , M. . Lefebvre , François Feillet et al.
Clinical Genetics, 2016, 89 (6), pp.700 - 707. ⟨10.1111/cge.12732⟩
Article dans une revue hal-01405124v1
Image document

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon , Mathieu Milh , François Feillet , Judith St-Onge , Yannis Duffourd et al.
American Journal of Human Genetics, 2014, 95 (1), pp.113 - 120. ⟨10.1016/j.ajhg.2014.06.006⟩
Article dans une revue hal-01668025v1
Image document

Severe gynaecological involvement in Proteus Syndrome

Maella Severino-Freire , Aude Maza , Paul Kuentz , Yannis Duffourd , Laurence Faivre et al.
European Journal of Medical Genetics, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
Article dans une revue hal-01862400v1

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia

L. Heinz , E. Bourrat , P. Vabres , J. Thevenon , A. Hotz et al.
British Journal of Dermatology, 2019, 180 (3), pp.657-661. ⟨10.1111/bjd.17024⟩
Article dans une revue hal-01859710v1

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

C. Lemattre , J. Thevenon , Y. Duffourd , S. Nambot , E. Haquet et al.
American Journal of Medical Genetics Part A, 2018, 176 (12), pp.2813-2818. ⟨10.1002/ajmg.a.40510⟩
Article dans une revue hal-01915588v1
Image document

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Article dans une revue hal-01670135v1

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

Julien Thevenon , Gabriel Laurent , Flavie Ader , Pascal Laforêt , Didier Klug et al.
EP-Europace, 2017, 19 (4), pp.651-659. ⟨10.1093/europace/euw067⟩
Article dans une revue hal-01444277v1
Image document

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Laurence Faivre , Gwenaëlle Collod-Beroud , Bert L. Callewaert , Anne H. Child , Christine Binquet et al.
European Journal of Human Genetics, 2009, 17 (4), pp.491-501. ⟨10.1038/ejhg.2008.207⟩
Article dans une revue inserm-00343925v2

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

F. Bonnet , A Andrieux , D Béri-Dexheimer , L Leheup , B Boute et al.
Journal of Medical Genetics, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩
Article dans une revue hal-02128729v1

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Michinori Toriyama , Chanjae Lee , S Paige Taylor , Ivan Duran , Daniel H Cohn et al.
Nature Genetics, 2016, 48 (6), pp.648 - 656. ⟨10.1038/ng.3558⟩
Article dans une revue hal-01409096v1

Postzygotic KITLG mutation in a congenital non-progressive linear nevoid hyperpigmentation

Sorlin Arthur , Annabel Maruani , Jean-Baptiste Rivière , Yannis Duffourd , Paul Kuentz et al.
Annual Meeting of the European-Society-for-Dermatological-Research (ESDR), European Soc Dermatol Res, Sep 2016, Munich, Germany. pp.S186-S186
Communication dans un congrès hal-01409212v1

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

Salima El Chehadeh , Julien Thevenon , Jean-Baptiste Rivière , Yannis Duffourd , Laurence Faivre et al.
Prenatal Diagnosis, 2016, ⟨10.1002/pd.4965⟩
Article dans une revue istex hal-01457570v1
Image document

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Laurence Faivre , Gwenaëlle Collod-Beroud , Anne H. Child , Bert L. Callewaert , Bart L. Loeys et al.
Journal of Medical Genetics, 2008, 45 (6), pp.384-90. ⟨10.1136/jmg.2007.056382⟩
Article dans une revue inserm-00343946v1

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

Mirna Assoum , Matthew Lines , Orly Elpeleg , Véronique Darmency , Sharon Whiting et al.
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
Article dans une revue hal-01990608v1

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

Gerarda Cappuccio , Camille Sayou , Pauline Le Tanno , Emilie Tisserant , Ange-Line Bruel et al.
Genetics in Medicine, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Article dans une revue hal-02928068v1

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese , Mitali Patel , Amelia Shoemark , Santeri Kiviluoto , Marie Legendre et al.
Nature Communications, 2017, 8 (1), pp.14279. ⟨10.1038/ncomms14279⟩
Article dans une revue hal-01560951v1

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

Cecilia Marelli , Foudil Lamari , Dominique Rainteau , Alexandre Lafourcade , Guillaume Banneau et al.
Brain - A Journal of Neurology , 2018, 141 (1), pp.72 - 84. ⟨10.1093/brain/awx297⟩
Article dans une revue hal-01737580v1

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Marie Eliade , Jeremy Skrzypski , Amandine Baurand , Caroline Jacquot , Geoffrey Bertolone et al.
Oncotarget, 2017, 8 (2), pp.1957-1971. ⟨10.18632/oncotarget.12699⟩
Article dans une revue hal-01527309v1
Image document

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Anne-Sophie Denommé-Pichon , Stephan C Collins , Ange-Line Bruel , Anna Mikhaleva , Christel Wagner et al.
Genetics in Medicine, 2023, pp.100835. ⟨10.1016/j.gim.2023.100835⟩
Article dans une revue inserm-04094776v1
Image document

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Laure Asselin , José Rivera Alvarez , Solveig Heide , Camille Bonnet , Peggy Tilly et al.
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-16294-6⟩
Article dans une revue hal-03373809v1

Murine MPDZ ‐linked hydrocephalus is caused by hyperpermeability of the choroid plexus

Daphne Lehalle , Umut Altunoglu , Ange‐line Bruel , Mirna Assoum , Yannis Duffourd et al.
EMBO Molecular Medicine, 2018, 11 (1), ⟨10.15252/emmm.201809540⟩
Article dans une revue hal-02904510v1
Image document

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Alma Kuechler , Johanna Czeschik, , Elisabeth Graf , Ute Grasshoff , Ulrike Hueffmeier, et al.
European Journal of Human Genetics, 2017, 25 (2), pp.183-191. ⟨10.1038/ejhg.2016.165⟩
Article dans une revue hal-01550212v1
Image document

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

Marion Imbert-Bouteille , Frédéric Tran Mau Them , Julien Thevenon , Thomas Guignard , Vincent Gatinois et al.
European Journal of Medical Genetics, 2019, 62 (3), pp.161-166. ⟨10.1016/j.ejmg.2018.07.003⟩
Article dans une revue hal-01845043v1

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.

C. Thauvin-Robinet , E. Roze , G. Couvreur , M.-H. Horellou , F. Sedel et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2008, 79 (6), pp.725-8. ⟨10.1136/jnnp.2007.133025⟩
Article dans une revue istex hal-00775974v1

Update on oral-facial-digital syndromes (OFDS)

Brunella Franco , Christel Thauvin-Robinet
Cilia, 2016, 5 (12), ⟨10.1186/s13630-016-0034-4⟩
Article dans une revue hal-01549073v1

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Solveig Heide , Boris Keren , Thierry Billette de Villemeur , Sandra Chantot-Bastaraud , Christel Depienne et al.
The Journal of Pediatrics, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
Article dans une revue hal-01560200v1

Linguistic characteristics of genetic primary progressive aphasias: a retrospective study of 27 cases carrying GRN and c9orf72 mutations

D. Saracino , S. Ferrieux , M. Nogues , D. Rinaldi , A. Guignebert et al.
the 4th Congress of the European Academy of Neurology, Jun 2018, Lisbonne, Portugal. pp.451 : EPR2129
Communication dans un congrès hal-02049007v1

INTU -related oral-facial-digital syndrome type VI: a confirmatory report

A. Bruel , J. Levy , N. Elenga , A. Defo , A. Favre et al.
Clinical Genetics, 2018, 93 (6), pp.1205-1209. ⟨10.1111/cge.13238⟩
Article dans une revue hal-01731277v1

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

Mathilde Lefebvre , Marie Beaufrere , Christine Francannet , Helene Laurichesse , Charlotte Poe et al.
American Journal of Medical Genetics Part A, 2018, ⟨10.1002/ajmg.a.40515⟩
Article dans une revue hal-01943910v1

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

Daphné Lehalle , Umut Altunoglu , Ange-Line Bruel , Eric Arnaud , Patricia Blanchet et al.
American Journal of Medical Genetics Part A, 2017, 173 (12), pp.3136 - 3142. ⟨10.1002/ajmg.a.38490⟩
Article dans une revue hal-01661829v1