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Structure: Internal structure identifier : 328928
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IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Laurence Desmyter , Michella Ghassibé , Nicole Revencu , Odile Boute , M. Lees , et al.
Mol Syndromol, 2010, 1 (2), pp.67-74. ⟨10.1159/000313786⟩
Journal articles inserm-00538240v1
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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

Marie Le Roux , Magalie Barth , Sophie Gueden , Patrick Desbordes de Cepoy , Alec Aeby , et al.
European Journal of Paediatric Neurology, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
Journal articles hal-03662709v1
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Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates

E. Szenker-Ravi , T. Ott , M. Khatoo , A. M. De Bellaing , W. X. Goh , et al.
Nature Genetics, 2022, 54 (1), pp.62-72. ⟨10.1038/s41588-021-00970-4⟩
Journal articles inserm-03752860v1
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BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

Sébastien Heritier , Jean-François Emile , Mohamed-Aziz Barkaoui , Caroline Thomas , Sylvie Fraitag , et al.
Journal of Clinical Oncology, 2016, 34 (25), pp.3023-3030. ⟨10.1200/JCO.2015.65.9508⟩
Journal articles inserm-02304878v1
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Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype

Pauline Dontaine , Elisa Kottos , Martine Dassonville , Ovidiu Balasel , Véronique Catros , et al.
European Journal of Medical Genetics, 2021, 64 (1), pp.104097. ⟨10.1016/j.ejmg.2020.104097⟩
Journal articles hal-03038235v1

Contribution des mutations du gène GHRHR aux déficits isolés en hormone de croissance non syndromiques dans une large cohorte de 313 patients indépendants

Sabrina Belkacem , Enzo Cohen , Soumeya Fedala , Nathalie Collot , Eliane Khallouf , et al.
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France
Conference poster inserm-03952757v1
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Efavirenz-based simplification after successful early lopinavir-boosted-ritonavir-based therapy in HIV-infected children in Burkina Faso and Côte d’Ivoire: the MONOD ANRS 12206 non-inferiority randomised trial

Désiré Lucien Dahourou , Madeleine Amorissani-Folquet , Karen Malateste , Clarisse Amani-Bosse , Malik Coulibaly , et al.
BMC Medicine, 2016, 15 (1), pp.85. ⟨10.1186/s12916-017-0842-4⟩
Journal articles inserm-01512561v1
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Interpersonal Relatedness and Non-suicidal Self-Injurious Behaviors in Female Adolescents With Borderline Personality Disorder

Fabian Guénolé , Solène Spiers , Ludovic Gicquel , Véronique Delvenne , Marion Robin , et al.
Frontiers in Psychiatry, 2021, 12, ⟨10.3389/fpsyt.2021.731629⟩
Journal articles hal-03487861v1
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Vemurafenib for Refractory Multisystem Langerhans Cell Histiocytosis in Children: An International Observational Study

Jean Donadieu , Islam Amine Larabi , Mathilde Tardieu , Johannes Visser , Caroline Hutter , et al.
Journal of Clinical Oncology, In press, pp.JCO.19.00456. ⟨10.1200/JCO.19.00456⟩
Journal articles inserm-02299433v1
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Borderline personality disorder and adolescent suicide attempt: the mediating role of emotional dysregulation

Bojan Mirkovic , Véronique Delvenne , Marion Robin , Alexandra Pham-Scottez , Maurice Corcos , et al.
BMC Psychiatry, 2021, 21 (1), pp.393. ⟨10.1186/s12888-021-03377-x⟩
Journal articles inserm-03330870v1

Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients

Enzo Cohen , Sabrina Belkacem , Soumeya Fedala , Nathalie Collot , Eliane Khallouf , et al.
57th Annual Meeting of the European Society for Paediatric Endocrinology, Sep 2018, Athenes, Grece, Greece
Conference papers inserm-03934333v1
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Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia

Emilie Lesport , Alina Ferster , Armand Biver , Benoit Roch , Nadia Vasquez , et al.
Oncotarget, 2017, 9 (3), pp.3779-3793. ⟨10.18632/oncotarget.23375⟩
Journal articles pasteur-02867459v1

Early transient hypoglycemia is associated with increased albumin nitration in the preterm infant.

Jean-Louis Wayenberg , Catia Cavedon , Chiraz Ghaddhab , Nicolas Lefèvre , Serge P. Bottari
Neonatology, 2011, 100 (4), pp.387-97. ⟨10.1159/000326936⟩
Journal articles inserm-00696207v1
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Marie Le Roux , Julien van Gils , Sophie Gueden , Patrick Desbordes de Cepoy , Alec Aeby , et al.
European Journal of Paediatric Neurology, 2020, 28, pp.214-220. ⟨10.1016/j.ejpn.2020.06.002⟩
Journal articles hal-03477017v1
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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome.

Olivia Boyer , Geneviève Benoit , Olivier Gribouval , Fabien Nevo , Audrey Pawtowski , et al.
Journal of Medical Genetics, 2010, 47 (7), pp.445-52. ⟨10.1136/jmg.2009.076166⟩
Journal articles inserm-00497773v1

SRY‐negative 46,XX testicular/ovotesticular DSD: Long‐term outcomes and early blockade of gonadotropic axis

Sophie Lambert , Matthieu Peycelon , Dinane Samara-Boustani , Capucine Hyon , Laurence Dumeige , et al.
Clinical Endocrinology, 2021, 94 (4), pp.667-676. ⟨10.1111/cen.14389⟩
Journal articles inserm-03790574v1