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Structure : Identifiant HAL de la structure : 247401

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⟩
Article dans une revue hal-02415844v1

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Julien Thevenon , Laurence Duplomb Jego , A. Saunier , M. Avila , Virginie Carmignac , et al.
Clinical Genetics, 2016, 90 (6), pp.509 - 517. ⟨10.1111/cge.12785⟩
Article dans une revue hal-01404457v1
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Severity of COVID-19 and survival in patients with rheumatic and inflammatory diseases: data from the French RMD COVID-19 cohort of 694 patients

Florence Aeschlimann , Nassim Ait-Abdallah , Jean-David Albert , Didier Alcais , Yannick Allanore , et al.
Annals of the Rheumatic Diseases, 2020, pp.annrheumdis-2020-218310. ⟨10.1136/annrheumdis-2020-218310⟩
Article dans une revue hal-03105409v1

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency

Hélène Coignard-Biehler , Nizar Mahlaoui , Benoît Pilmis , Vincent Barlogis , Pauline Brosselin , et al.
Journal of Clinical Immunology, 2019, 39 (7), pp.702-712. ⟨10.1007/s10875-019-00658-9⟩
Article dans une revue hal-02377907v1

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Mathilde Lefebvre , Fabienne Dufernez , Ange-Line Bruel , Marie Gonzales , Bernard Aral , et al.
Prenatal Diagnosis, 2015, 35 (7), pp.675-684. ⟨10.1002/pd.4591⟩
Article dans une revue istex hal-01376847v1
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

Raphael Carapito , Ekaterina L. Ivanova , Aurore Morlon , Linyan Meng , Anne Molitor , et al.
American Journal of Human Genetics, 2019, 104, pp.319 - 330. ⟨10.1016/j.ajhg.2018.12.007⟩
Article dans une revue hal-03486684v1

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Ina Schanze , Jens Bunt , Jonathan W.C. Lim , Denny Schanze , Ryan Dean , et al.
American Journal of Human Genetics, 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
Article dans une revue hal-01999378v1

Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

L. Faivre , Clothilde Esteve , L. Francescatto , P. L. Tan , A. Bourchany , et al.
European Journal of Human Genetics, 2019, 27 (1), pp.795-796
Article dans une revue hal-02461437v1
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Monitoring disease activity in systemic lupus erythematosus with single-molecule array digital ELISA quantification of serum interferon-α

Alexis Mathian , Suzanne Mouries-Martin , Karim Dorgham , Herve Devilliers , Laura Barnabei , et al.
Arthritis & rheumatology, 2019, ⟨10.1002/art.40792⟩
Article dans une revue hal-01952505v1

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria Parker , Kim Keppler-Noreuil , Laurence Faivre , Maxime Luu , Neal Oden , et al.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0297-9⟩
Article dans une revue hal-02000984v1

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne , Caroline Nava , Boris Keren , Solveig Heide , Agnès Rastetter , et al.
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Article dans une revue hal-01502135v1
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Subcutaneous Panniculitis-like T-cell Lymphoma: Immunosuppressive Drugs Induce Better Response than Polychemotherapy

David Michonneau , Tony Petrella , Nicolas Ortonne , Saskia Ingen-Housz-Oro , Nathalie Franck , et al.
Acta Dermato-Venereologica, 2017, 97 (3), pp.358-364. ⟨10.2340/00015555-2543⟩
Article dans une revue hal-01516926v1

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

Caroline Alby , Lucile Boutaud , Maryse Bonniere , Sophie Collardeau-Frachon , Laurent Guibaud , et al.
Birth Defects Research Part A: Clinical and Molecular Teratology, 2018, 110 (4), pp.382-389. ⟨10.1002/bdr2.1154⟩
Article dans une revue hal-01662369v1

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⟩
Article dans une revue hal-02883449v1
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BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease

Abderrahim Oussalah , Patrice Hodonou Avogbe , Erwan Guyot , Céline Chery , Rosa-Maria Guéant , et al.
Oncotarget, 2016, 8 (38), pp.62842-62857. ⟨10.18632/oncotarget.11327⟩
Article dans une revue hal-01494359v1

Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti.

Elodie Bal , Emmanuel Laplantine , Yamina Hamel , Virginie Dubosclard , Bertrand Boisson , et al.
Journal of Allergy and Clinical Immunology, 2017, 17 (4), ⟨10.1016/j.jaci.2016.11.056⟩
Article dans une revue hal-01560363v1

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

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
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VLITL is a major cross-beta-sheet signal for fibrinogen A alpha-chain frameshift variants

Cyrille Garnier , Fatma Briki , Brigitte Nedelec , Patrick Le Pogamp , Ahmet Dogan , et al.
Blood, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
Article dans une revue hal-01688181v1

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

Anna C. Thomas , Zhiqiang Zeng , Jean-Baptiste Rivière , Ryan O’shaughnessy , Lara Al-Olabi , et al.
Journal of Investigative Dermatology, 2016, 136 (4), pp.770 - 778. ⟨10.1016/j.jid.2015.11.027⟩
Article dans une revue hal-01408707v1

Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution.

X Cabagnols , J P Defour , V Ugo , J C Ianotto , P Mossuz , et al.
Leukemia, 2014, 29 (1), pp.249-252. ⟨10.1038/leu.2014.270⟩
Article dans une revue hal-01258918v1

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

S. Baer , A. Afenjar , T. Smol , A. Piton , B. Gérard , et al.
Clinical Genetics, 2018, 94 (1), pp.141-152. ⟨10.1111/cge.13254⟩
Article dans une revue hal-02393652v1

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Holly a.F. Stessman , Marjolein h. Willemsen , Michael Fenckova , Osnat Penn , Alexander Hoischen , et al.
American Journal of Human Genetics, 2016, 98 (3), pp.541 - 552. ⟨10.1016/j.ajhg.2016.02.004⟩
Article dans une revue hal-01405534v1
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Delineating FOXG1 syndrome

Nancy Vegas , Mara Cavallin , Camille Maillard , Nathalie Boddaert , Joseph Toulouse , et al.
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
Article dans une revue hal-01920261v1
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot , Aoife Mcmahon , Claire Bar , Philippe Campeau , David Davidson , et al.
Genetics in Medicine, 2019, 21 (8), pp.1897-1898. ⟨10.1038/s41436-018⟩
Article dans une revue hal-01919142v1

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

E. Ranza , C. Huber , N. Levin , G. Baujat , C. Bole-Feysot , et al.
Clinical Genetics, 2017, 91 (6), pp.868 - 880. ⟨10.1111/cge.12885⟩
Article dans une revue hal-01541071v1

Une forme pagétoïde de pseudomélanome d’Ackerman secondaire à un naevus congénital dans l’enfance : à propos d’un cas

Lisa Bompy , Julie Levasseur , Anna Hallier , Sylvie Fraitag , Marie-Hélène Aubriot-Lorton , et al.
Annales de Chirurgie Plastique Esthétique, 2018, 63 (4), pp.349-352. ⟨10.1016/j.anplas.2018.03.003⟩
Article dans une revue hal-01780677v1

205 ARP-T1 is a protein associated with a novel ciliopathy in inherited basal cell cancer of Bazex-Dupré-Christol Syndrome

H. Park , E. Chiticariu , D. Bachmann , A. Smahi , P. Vabres , et al.
International Investigative Dermatology (IID) Meeting, May 2018, Orlando, United States. pp.S35, ⟨10.1016/j.jid.2018.03.210⟩
Communication dans un congrès hal-01950897v1
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Diagnostic criteria in Pai syndrome: results of a case series and a literature review

Anne Morice , Eva Galliani , Jeanne Amiel , Martin Rachwalski , Cecilia Neiva , et al.
International Journal of Oral and Maxillofacial Surgery, 2019, 48 (3), pp.Pages 283-290
Article dans une revue hal-01948492v1

XPO1 regulates erythroid differentiation and is a new target for the treatment of β-thalassemia

Flavia Guillem , Michael Dussiot , Elia Colin , Thunwarat Suriyun , Jean Benoit Arlet , et al.
Haematologica, 2019, pp.haematol.2018.210054. ⟨10.3324/haematol.2018.210054⟩
Article dans une revue hal-02378417v1