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Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms

 Arnaud Lagarde , Grégory Mougel , Lucie Coppin , Magalie Haissaguerre , Lauriane Le Collen , et al.
Endocrine Connections, 2022, 11 (11), ⟨10.1530/EC-22-0093⟩
Article dans une revue hal-04013616v1

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

 Amandine Sevy , Mathieu Cerino , Svetlana Gorokhova , Eugénie Dionnet , Yves Mathieu , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2016, 87 (3), pp.340-U116. ⟨10.1136/jnnp-2014-309663⟩
Article dans une revue hal-01469052v1
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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

 Nehla Ghedira , Arnaud Lagarde , Karim Ben Ameur , Sahar Elouej , Rania Sakka , et al.
BMC Pediatrics, 2018, 18 (1), pp.286. ⟨10.1186/s12887-018-1259-8⟩
Article dans une revue pasteur-01882965v1
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

 Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard , et al.
Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩
Article dans une revue hal-02406985v1
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Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

 Imen Nabouli , Asma Chikhaoui , Houcemeddine Othman , Sahar Elouej , Meriem Jones , et al.
Frontiers in Genetics, 2021, 12, pp.650639. ⟨10.3389/fgene.2021.650639⟩
Article dans une revue pasteur-03550460v1
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[OISO, automatic treatment of patients management in oncogenetics].

 Celine Guien , Aurelie J Fabre , Arnaud Lagarde , David Salgado , Catherine Gensollen-Thiriez , et al.
Bulletin du Cancer, 2017, 104 (7-8), pp.602 - 607. ⟨10.1016/j.bulcan.2017.06.003⟩
Article dans une revue hal-01680483v1

3D nuclear topology dynamics of the 4q35 subtelomeric region linked to Facio-Scapulo-Humeral Dystrophy in skeletal muscle cells and hiPSC

 Camille Dion , Marie-Cécile Gaillard , Arnaud Lagarde , Cherif Badja , Armand Tasmadjian , et al.
EMBO Conference - Chromatin and Epigenetics, May 2015, Heidelberg, Germany
Poster de conférence hal-01675614v1
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Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients

 Arnaud Lagarde , Etienne Rouleau , Anthony Ferrari , Tetsuro Noguchi , Jinghua Qiu , et al.
Journal of Medical Genetics, 2010, 47 (10), pp.721. ⟨10.1136/jmg.2010.078964⟩
Article dans une revue hal-00557398v1
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Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

 Asma Chikhaoui , Sahar Elouej , Imen Nabouli , Meriem Jones , Arnaud Lagarde , et al.
Frontiers in Genetics, 2019, 10, pp.111. ⟨10.3389/fgene.2019.00111⟩
Article dans une revue pasteur-02057308v1
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A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy

 Damien Galant , Benedicte Gaborit , Camille Desgrouas , Inès Abdesselam , Monique Bernard , et al.
Cells, 2016, 5 (2), pp.21. ⟨10.3390/cells5020021⟩
Article dans une revue hal-01425516v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

 Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix , et al.
Human Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩
Article dans une revue hal-01614514v1
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Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

 Lucie Coppin , Sophie Giraud , Eric Pasmant , Arnaud Lagarde , Marie-Odile North , et al.
European Journal of Endocrinology, 2023, 187 (1), pp.K1-K6. ⟨10.1530/EJE-22-0171⟩
Article dans une revue hal-04014019v1
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