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A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
Nadem Soufir
,
Cecile Ged
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Agnes Bourillon
,
Frederic Austerlitz
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Cécile Chemin
et al.
Journal articles
hal-00549153v1
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Mathieu Anheim
,
Ben Monga
,
Marie Fleury
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P. Charles
,
Clara Barbot
et al.
Journal articles
inserm-00437772v1
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Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
Cecile Pagan
,
Hany Goubran Botros
,
Karine Poirier
,
Anne Dumaine
,
Stéphane Jamain
et al.
Journal articles
inserm-00610655v1
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Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.
A. Bloch-Zupan
,
J. Stachtou
,
D. Emmanouil
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B. Arveiler
,
D. Griffiths
et al.
Journal articles
hal-00190937v1
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Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Camille Louvrier
,
Eric Pasmant
,
Audrey Briand-Suleau
,
Joëlle Cohen
,
Patrick Nitschké
et al.
Journal articles
hal-03905479v1
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Energy Metabolism Rewiring Precedes UVB-Induced Primary Skin Tumor Formation
Mohsen Hosseini
,
Léa Dousset
,
Walid Mahfouf
,
Martin Serrano-Sanchez
,
Isabelle Redonnet-Vernhet
et al.
Journal articles
hal-02421137v1
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Elodie Bal
,
Hyun-Sook Park
,
Zakia Belaid-Choucair
,
Hulya Kayserili
,
Magali Naville
et al.
Journal articles
hal-02415844v1
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Elaboration of a semi-automated algorithm for brain arteriovenous malformation segmentation: initial results
Fanny Laffargue
,
Sylvie Bourthoumieu
,
Brigitte Llanas
,
Véronique Baudouin
,
Annie Lahoche
et al.
Journal articles
hal-02436954v1
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Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY
Wladimir Mauhin
,
Olivier Lidove
,
Damien Amelin
,
Foudil Lamari
,
Catherine Caillaud
et al.
Journal articles
hal-02086919v1
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Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.
F Giraudeau
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L Taine
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V Biancalana
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B Delobel
,
H Journel
et al.
Journal articles
hal-01158343v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
et al.
Journal articles
hal-02347889v1
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P. Callier
,
B. Aral
,
N. Hanna
,
S. Lambert
,
H. Dindy
et al.
Journal articles
hal-01068032v1
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Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome
Nathalie Boutet
,
Yves-Jean Bignon
,
Valérie Drouin-Garraud
,
Pierre Sarda
,
Michel Longy
et al.
Journal articles
hal-02196228v1
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Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features
S. Moutton
,
A.-L. Bruel
,
M. Assoum
,
E. Sarrazin
,
M. Chevarin
et al.
Journal articles
hal-01882559v1
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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
Julien Cottineau
,
Molly C. Kottemann
,
Francis P. Lach
,
Young-Hoon Kang
,
Frederic Vely
et al.
Journal articles
hal-01765083v1
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Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Frederic Brioude
,
Irène Netchine
,
Françoise Praz
,
Marilyne Le Jule
,
Claire Calmel
et al.
Journal articles
istex
hal-01195734v1
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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Mouna Barat-Houari
,
Bruno Dumont
,
Aurelie J Fabre
,
Frédéric Tm Them
,
Yves Alembik
et al.
Journal articles
hal-01239808v1
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Analysis of lymphocytes subsets in a series of 39 HHT patients.
Patrick Blanco
,
Virginie Chrysostome
,
Gaëlle Lesca
,
Sabrina Giraud
,
Didier Lacombe
et al.
VI HHT-ROW Scientific conference, 2005, Lyon, France
Conference papers
hal-00019582v1
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Description of 2 angiogenic phenotypes in clear cell renal cell carcinoma.
Julien Edeline
,
Stéphanie Mottier
,
Cécile Vigneau
,
Florence Jouan
,
Christophe Perrin
et al.
Journal articles
istex
inserm-00702346v1
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Growth patterns of patients with Noonan syndrome: correlation with age and genotype
Catie Cessans
,
Virginie Ehlinger
,
Catherine Arnaud
,
Armelle Yart
,
Yline Capri
et al.
Journal articles
hal-01662610v1
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C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.
Isabelle Le Ber
,
Agnès Camuzat
,
Lena Guillot-Noel
,
Didier Hannequin
,
Lucette Lacomblez
et al.
Journal articles
hal-00924796v1
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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Aurélien Juven
,
Sophie Nambot
,
Amélie Piton
,
Nolwenn Jean-Marçais
,
Alice Masurel
et al.
Journal articles
hal-02883449v1
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COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
Igor Sibon
,
Isabelle Coupry
,
Patrice Ménégon
,
Jean-Pierre Bouchet
,
Philippe Gorry
et al.
Journal articles
istex
hal-02196226v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
et al.
Journal articles
hal-01738521v1
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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
Lionel van Maldergem
,
Qingming Hou
,
Vera Kalscheuer
,
Marlène Rio
,
Martine Doco-Fenzy
et al.
Journal articles
hal-02124657v1
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Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress.
Chloé Quélin
,
Claude Bendavid
,
Christèle Dubourg
,
Céline de La Rochebrochard
,
Josette Lucas
et al.
Journal articles
istex
inserm-00353241v1
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Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
Béatrice Bocquet
,
Annie Lacroux
,
Marie-Odile Surget
,
Corinne Baudoin
,
Virginie Marquette
et al.
Journal articles
hal-02446185v1
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Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation
Julie Lavie
,
Román Serrat
,
Nadège Bellance
,
Gilles Courtand
,
Jean-William Dupuy
et al.
Journal articles
hal-02353858v1
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Erfan Aref-Eshghi
,
Jennifer Kerkhof
,
Victor Pedro
,
Mouna Barat-Houari
,
Nathalie Ruiz-Pallares
et al.
Journal articles
hal-02538107v1
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Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Xavier Ayrignac
,
Clarisse Carra Dallière
,
Nicolas Menjot de Champfleur
,
Christian Denier
,
Patrick Aubourg
et al.
Journal articles
hal-01138578v1
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