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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.
Article dans une revue
hal-01405124v1
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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.
Article dans une revue
hal-01668025v1
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Severe gynaecological involvement in Proteus Syndrome
Maella Severino-Freire
,
Aude Maza
,
Paul Kuentz
,
Yannis Duffourd
,
Laurence Faivre
et al.
Article dans une revue
hal-01862400v1
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Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia
L. Heinz
,
E. Bourrat
,
P. Vabres
,
J. Thevenon
,
A. Hotz
et al.
Article dans une revue
hal-01859710v1
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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.
Article dans une revue
hal-01915588v1
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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.
Article dans une revue
hal-01670135v1
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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.
Article dans une revue
hal-01444277v1
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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.
Article dans une revue
inserm-00343925v2
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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.
Article dans une revue
hal-02128729v1
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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.
Article dans une revue
hal-01409096v1
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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
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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.
Article dans une revue
istex
hal-01457570v1
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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.
Article dans une revue
inserm-00343946v1
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Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
Mirna Assoum
,
Matthew Lines
,
Orly Elpeleg
,
Véronique Darmency
,
Sharon Whiting
et al.
Article dans une revue
hal-01990608v1
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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.
Article dans une revue
hal-02928068v1
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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.
Article dans une revue
hal-01560951v1
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Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5
Cecilia Marelli
,
Foudil Lamari
,
Dominique Rainteau
,
Alexandre Lafourcade
,
Guillaume Banneau
et al.
Article dans une revue
hal-01737580v1
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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.
Article dans une revue
hal-01527309v1
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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.
Article dans une revue
inserm-04094776v1
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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.
Article dans une revue
hal-03373809v1
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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.
Article dans une revue
hal-02904510v1
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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.
Article dans une revue
hal-01550212v1
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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.
Article dans une revue
hal-01845043v1
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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.
Article dans une revue
istex
hal-00775974v1
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Update on oral-facial-digital syndromes (OFDS)
Brunella Franco
,
Christel Thauvin-Robinet
Article dans une revue
hal-01549073v1
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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.
Article dans une revue
hal-01560200v1
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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
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INTU -related oral-facial-digital syndrome type VI: a confirmatory report
A. Bruel
,
J. Levy
,
N. Elenga
,
A. Defo
,
A. Favre
et al.
Article dans une revue
hal-01731277v1
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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.
Article dans une revue
hal-01943910v1
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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.
Article dans une revue
hal-01661829v1
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