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Résultats : 3195  publications trouvées.

Laville, D.  et al. 2022

A subset of lung adenofibromas are morphological variants of solitary fibrous tumour.

Histopathology - issue: 1 - volume: 81 - pages: 133-137.

Kraoua, L.  et al. 2022

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.

Background: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to...
Mol Genet Genomic Med - issue: 7 - volume: 10 - pages: e1954.

Baptista, A.  et al. 2022

Universal multilayer network exploration by random walk with restart

The amount and variety of data have been increasing drastically for several years. These data are often represented as networks and explored with approaches arising from network theory. Recent years...
Communications Physics - issue: 1 - volume: 5 - pages: 170.

Brahmi, M.  et al. 2022

CIC-DUX4 sarcomas.

PURPOSE OF REVIEW: CIC-DUX4 sarcoma (CDS) is a high-grade undifferentiated round cells sarcoma that belongs to the undifferentiated round cell sarcomas family. It represents less than one percent of...
Curr Opin Oncol - issue: 4 - volume: 34 - pages: 342-347.

Bataille, S.  et al. 2022

Mechanisms of myostatin and activin A accumulation in chronic kidney disease

BACKGROUND: Myostatin and activin A induce muscle wasting by activating the ubiquitin proteasome system and inhibiting the Akt/mammalian target of rapamycin pathway. In chronic kidney disease (CKD),...
Nephrol Dial Transplant - issue: 7 - volume: 37 - pages: 1249-1260.

Cerino, M.  et al. 2022

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We...
Genes (Basel) - issue: 6 - volume: 13 - pages: 1076.

Castinetti, F.  et al. 2022

Impact of Cushing's syndrome on fertility and pregnancy.

Cushing's syndrome is defined by an endogenous or exogenous hypercortisolism. Increased cortisol, as well as increased androgens will have a negative impact on the pulsatile secretion of GnRH, thus...
Ann Endocrinol (Paris) - issue: 3 - volume: 83 - pages: 188-190.

Macagno, N.  et al. 2022

Wholistic approach: Transcriptomic analysis and beyond using archival material for molecular diagnosis.

Many neoplasms remain unclassified after histopathological examination, which requires further molecular analysis. To this regard, mesenchymal neoplasms are particularly challenging due to the...
Genes Chromosomes Cancer - issue: 6 - volume: 61 - pages: 382-393.

Salvatori, R.  et al. 2022

Patient-reported outcomes in patients with acromegaly treated with pegvisomant in the ACROSTUDY extension: A real-world experience.

PURPOSE: To report the effects of pegvisomant (PEGV) treatment on patient-reported outcomes in acromegaly patients. METHODS: We conducted an extension study of an open-label, multinational,...
Pituitary - issue: 3 - volume: 25 - pages: 420-432.

Fleseriu, M.  et al. 2022

Osilodrostat for the treatment of Cushing's disease: efficacy, stability, and persistence - Authors' reply.

Lancet Diabetes Endocrinol - issue: 6 - volume: 10 - pages: 385-387.

Coppin, L.  et al. 2022

Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of...
Eur J Endocrinol - issue: 1 - volume: 187 - pages: K1-K6.

Cuny, T.  et al. 2022

Letter to the Editor From Cuny et al: "Correlation of Preoperative Imaging Findings and Parathyroidectomy Outcomes Support NICE 2019 Guidance".

J Clin Endocrinol Metab - issue: 6 - volume: 107 - pages: e2642-e2643.

Chanez, B.  et al. 2022

Genomic analysis of paired IDHwt glioblastomas reveals recurrent alterations of MPDZ at relapse after radiotherapy and chemotherapy.

PURPOSE: We aimed to identify genomic drivers of glioblastoma inevitable recurrence. METHODS: Ten pairs of initial and recurrent frozen IDHwt glioblastoma samples were screened by CGH Array. Next...
J Neurol Sci - issue: - volume: 436 - pages: 120207.

Jaouadi, H.  et al. 2022

Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease

Bicuspid aortic valve (BAV) is the most common congenital heart defect with a high index of heritability. Patients with BAV have different clinical courses and disease progression. Herein, we report...
J Hum Genet - issue: 67 - volume: 9 - pages: 515-518.

Jaouadi, H.  et al. 2022

Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.

Left Ventricular Non-Compaction (LVNC) is defined by the triad prominent myocardial trabecular meshwork, thin compacted layer, and deep intertrabecular recesses. LVNC associated with dilation is...
Int J Mol Sci - issue: 9 - volume: 23 - pages: 5205.

Aubert Mucca, M.  et al. 2022

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.

De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical...
J Med Genet - issue: 5 - volume: 59 - pages: 505-510.

Biba-Maazou, N.  et al. 2022

Time-limited alterations in cortical activity of a knock-in mouse model of KCNQ2-related developmental and epileptic encephalopathy.

De novo missense variants in the KCNQ2 gene encoding the Kv7.2 subunit of voltage-gated potassium Kv7/M channels are the main cause of developmental and epileptic encephalopathy with neonatal onset....
J Physiol - issue: 10 - volume: 600 - pages: 2429-2460.

Mennetrey, C.  et al. 2022

Value of Somatostatin Receptor PET/CT in Patients With MEN1 at Various Stages of Their Disease.

CONTEXT: Despite the growing evidence of the clinical value of somatostatin receptor (SSTR) positron emission tomography (PET) in the evaluation of neuroendocrine tumors (NETs), its role remains to...
J Clin Endocrinol Metab - issue: 5 - volume: 107 - pages: e2056-e2064.

Cointe, S.  et al. 2022

Granulocyte microvesicles with a high plasmin generation capacity promote clot lysis and improve outcome in septic shock.

Microvesicles (MVs) have previously been shown to exert profibrinolytic capacity, which is increased in patients with septic shock (SS) with a favorable outcome. We, therefore, hypothesized that the...
Blood - issue: 15 - volume: 139 - pages: 2377-2391.

Lescroart, F.  et al. 2022

Single Cell Approaches to Understand the Earliest Steps in Heart Development

Purpose of review: Cardiac progenitors are the building blocks of the heart. Our knowledge, on how these progenitors build the heart, has considerably increased over the last two decades with the...
Curr Cardiol Rep - issue: - volume: - pages: .