Chikhaoui, A. et al. 2019 Identification of a ERCC5 c.2333T > C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype - issue: - volume: 10 - pages: .
Karolak, JA. et al. 2019 Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a... - issue: 2 - volume: 104 - pages: 213-228.
Karolak, JA. et al. 2019 Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway - issue: 2 - volume: 104 - pages: 213-228.
Macagno, N. et al. 2019 Grading of Meningeal Solitary Fibrous Tumors/Hemangiopericytomas: Prognostic Value of the Marseille Grading System in a Cohort of 132 Patients in correlation with molecular data - issue: 1, SI - volume: 29 - pages: 35-36.
Valdeolivas, A. et al. 2019 Random walk with restart on multiplex and heterogeneous biological networks Motivation: Recent years have witnessed an exponential growth in the number of identified interactions between biological molecules. These interactions are usually represented as large and complex... - issue: 3 - volume: 35 - pages: 497-505.
Giovannini-Chami, L. et al. 2019 STAT3 gain of function: a new aetiology of severe rheumatic disease - issue: 2 - volume: 58 - pages: 365-367.
Fultang, L. et al. 2019 Macrophage-Derived IL1 beta and TNF alpha Regulate Arginine Metabolism in Neuroblastoma Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via... - issue: 3 - volume: 79 - pages: 611-624.
Romanet, P. et al. 2019 Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase... - issue: - volume: 205 - pages: 281+.
Castinetti, F. et al. 2019 French Endocrine Society Guidance on endocrine side effects of immunotherapy The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPIs). However, the use of ICPI has a risk of side effects, particularly... - issue: 2 - volume: 26 - pages: G1-G18.
Jullien, N. et al. 2019 Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant... Eur. J. Hum. Genet. - issue: 2 - volume: 27 - pages: 216-225.
Grapperon, A. et al. 2019 Guillain-Barre syndrome subtypes: A clinical electrophysiological study of 100 patients Introduction. - A retrospective analysis was performed to document the clinical and electrophysiological features of Guillain-Barre syndrome (GBS) subtypes using different diagnostic criteria.... - issue: 1-2 - volume: 175 - pages: 73-80.
Romanet, P. et al. 2019 Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase... J. Pediatr. - issue: - volume: 205 - pages: 281-285.e4.
Macagno, N. et al. 2019 Grading of Meningeal Solitary Fibrous Tumors/Hemangiopericytomas: Prognostic Value of the Marseille Grading System in a Cohort of 132 Patients in correlation with molecular data - issue: 1, SI - volume: 29 - pages: 35-36.
Valdeolivas, A. et al. 2019 Random walk with restart on multiplex and heterogeneous biological networks - issue: 3 - volume: 35 - pages: 497-505.
Giovannini-Chami, L. et al. 2019 STAT3 gain of function: a new aetiology of severe rheumatic disease - issue: 2 - volume: 58 - pages: 365-367.
Fultang, L. et al. 2019 Macrophage-Derived IL1 beta and TNF alpha Regulate Arginine Metabolism in Neuroblastoma - issue: 3 - volume: 79 - pages: 611-624.
Romanet, P. et al. 2019 Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome - issue: - volume: 205 - pages: 281+.
Castinetti, F. et al. 2019 French Endocrine Society Guidance on endocrine side effects of immunotherapy - issue: 2 - volume: 26 - pages: G1-G18.
Vergier, J. et al. 2019 Evaluation of flash glucose monitoring after long-term use: A pediatric survey - issue: 1 - volume: 13 - pages: 63-70.
Jullien, N. et al. 2019 Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency - issue: 2 - volume: 27 - pages: 216-225.