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Structure: Internal structure identifier : 84013

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

Nadem Soufir , Cecile Ged , Agnes Bourillon , Frederic Austerlitz , Cécile Chemin et al.
Journal of Investigative Dermatology, 2010, 130 (6), pp.1537-42. ⟨10.1038/jid.2009.409⟩
Journal articles hal-00549153v1

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 , P. Charles , Clara Barbot et al.
Brain - A Journal of Neurology , 2009, 132 (Pt 10), pp.2688-98. ⟨10.1093/brain/awp211⟩
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.
BMC Medical Genetics, 2011, 12 (1), pp.17. ⟨10.1186/1471-2350-12-17⟩
Journal articles inserm-00610655v1

Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.

A. Bloch-Zupan , J. Stachtou , D. Emmanouil , B. Arveiler , D. Griffiths et al.
American Journal of Medical Genetics Part A, 2007, 143 (6), pp.570-3. ⟨10.1002/ajmg.a.31622⟩
Journal articles hal-00190937v1

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.
Neuro-Oncology, 2018, 20 (7), pp.917-929. ⟨10.1093/neuonc/noy009⟩
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.
Cell Reports, 2018, 23 (12), pp.3621-3634. ⟨10.1016/j.celrep.2018.05.060⟩
Journal articles hal-02421137v1

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.
Nature Medicine, 2017, 23 (10), pp.1226-1233. ⟨10.1038/nm.4368⟩
Journal articles hal-02415844v1

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.
European Radiology, 2015, 25 (2), pp.436-443. ⟨10.1007/s00330-014-3421-5⟩
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.
Orphanet Journal of Rare Diseases, 2018, 13 (1), pp.127. ⟨10.1186/s13023-018-0877-4⟩
Journal articles hal-02086919v1

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 , L Taine , V Biancalana , B Delobel , H Journel et al.
Journal of Medical Genetics, 2001, 38 (2), pp.121-5. ⟨10.1136/jmg.38.2.121⟩
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.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
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.
Clinical Genetics, 2013, 84 (6), pp.507--521. ⟨10.1111/cge.12094⟩
Journal articles hal-01068032v1

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 of Investigative Dermatology, 2003, 121 (3), pp.478-481. ⟨10.1046/j.1523-1747.2003.12423.x⟩
Journal articles hal-02196228v1

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.
Clinical Genetics, 2018, 93 (6), pp.1172 - 1178. ⟨10.1111/cge.13243⟩
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 of Clinical Investigation, 2017, 127 (5), pp.1991-2006. ⟨10.1172/JCI90727⟩
Journal articles hal-01765083v1

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.
Human Mutation, 2015, 36 (9), pp.894--902. ⟨10.1002/humu.22824⟩
Journal articles istex hal-01195734v1

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.
European Journal of Human Genetics, 2016, 24 (7), pp.992-1000. ⟨10.1038/ejhg.2015.250⟩
Journal articles hal-01239808v1

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

Description of 2 angiogenic phenotypes in clear cell renal cell carcinoma.

Julien Edeline , Stéphanie Mottier , Cécile Vigneau , Florence Jouan , Christophe Perrin et al.
Human Pathology, 2012, 43 (11), pp.1982-1990. ⟨10.1016/j.humpath.2012.01.023⟩
Journal articles istex inserm-00702346v1

Growth patterns of patients with Noonan syndrome: correlation with age and genotype

Catie Cessans , Virginie Ehlinger , Catherine Arnaud , Armelle Yart , Yline Capri et al.
European Journal of Endocrinology, 2016, 174 (5), pp.641 - 650. ⟨10.1530/EJE-15-0922⟩
Journal articles hal-01662610v1

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 of Alzheimer's Disease, 2013, 34 (2), pp.485-99. ⟨10.3233/JAD-121456⟩
Journal articles hal-00924796v1

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.
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
Journal articles hal-02883449v1

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke

Igor Sibon , Isabelle Coupry , Patrice Ménégon , Jean-Pierre Bouchet , Philippe Gorry et al.
Annals of Neurology, 2007, 62 (2), pp.177-184. ⟨10.1002/ana.21191⟩
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.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1

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.
Human Molecular Genetics, 2013, 22 (16), pp.3306-3314. ⟨10.1093/hmg/ddt187⟩
Journal articles hal-02124657v1

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.
European Journal of Medical Genetics, 2009, 52 (1), pp.41-6. ⟨10.1016/j.ejmg.2008.10.002⟩
Journal articles istex inserm-00353241v1

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.
Ophthalmic Epidemiology, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩
Journal articles hal-02446185v1

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.
Human Molecular Genetics, 2017, pp.ddw425. ⟨10.1093/hmg/ddw425⟩
Journal articles hal-02353858v1

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.
American Journal of Human Genetics, 2020, 106 (3), pp.356-370. ⟨10.1016/j.ajhg.2020.01.019⟩
Journal articles hal-02538107v1

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.
Brain - A Journal of Neurology , 2015, 138 (Pt 2), pp.284-92. ⟨10.1093/brain/awu353⟩
Journal articles hal-01138578v1