MMG PUBLICATIONS

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Results: 3200  publications found.

Sahakian, N.  et al. 2023

Letter to the Editor: The Somatic RET M918T Variant May Modify the Natural History of Germline RET L790F MEN2-Related Medullary Thyroid Carcinoma

Thyroid - issue: - volume: - pages: .

Legrand, M.  et al. 2023

SSTR2A is a diagnostic marker of trichogerminoma

J Eur Acad Dermatol Venereol - issue: - volume: - pages: .

Lutaud, R.  et al. 2023

Motivational interviewing for the management of child and adolescent obesity: a systematic literature review

BACKGROUND: Among children or adolescents suffering from obesity, 40-70,5% will remain obese as adults according to their paediatric BMI. The recommended management involves changes in their...
BJGP Open - issue: - volume: - pages: BJGPO.2022.0145.

Brun, L.  et al. 2023

Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE.

PURPOSE: KCNQ2 neonatal developmental and epileptic encephalopathy (NEO-DEE) is characterized by intractable seizures accompanied by an abnormal neurodevelopment. In a mouse model of NEO-DEE carrying...
Epilepsy Res - issue: - volume: 193 - pages: 107160.

Le Collen, L.  et al. 2023

Heterozygous pathogenic variants in POMC are not responsible for monogenic obesity: Implication for MC4R agonist use

PURPOSE: Recessive deficiency of proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the melanocortin 4 receptor agonist setmelanotide. Furthermore, a phase 3...
Genet Med - issue: 7 - volume: 25 - pages: 100857.

Delteil, C.  et al. 2023

[Peripancreatic proliferation in children, postmortem case]

Ann Pathol - issue: 4 - volume: 43 - pages: 348-351.

Gauche, L.  et al. 2023

Assessment of a new home-based care pathway for children newly diagnosed with type 1 diabetes

AIM: To compare the outcomes of home-based and conventional hospital-based care for children newly diagnosed with type 1 diabetes mellitus. METHODS: A descriptive study was conducted of all children...
Prim Care Diabetes - issue: - volume: - pages: S1751-9918(23)00110-9.

Bataille, S.  et al. 2023

Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation

BACKGROUND: Chronic kidney disease is associated with a significant decrease in muscle strength and mass, possibly related to muscle cell damage by uremic toxins. Here, we studied in vitro and in vivo...
Nephrol Dial Transplant - issue: - volume: - pages: gfad123.

Engel, C.  et al. 2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures...
Eur J Hum Genet - issue: - volume: - pages: .

Mignon-Ravix, C.  et al. 2023

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Developmental and epileptic encephalopathies (DEE) are a group of neurodevelopmental disorders characterized by epileptic seizures associated with developmental delay or regression. DEE are...
Epilepsia - issue: 6 - volume: 64 - pages: e127-e134.

Mac, TT.  et al. 2023

Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports

Deficient anterior pituitary with common variable immune deficiency (DAVID) syndrome is a rare condition characterized by adrenocorticotropic hormone (ACTH) deficiency and primary...
J Neuroendocrinol - issue: 6 - volume: 35 - pages: e13287.

Trecourt, A.  et al. 2023

CREB fusion-associated epithelioid mesenchymal neoplasms of the female adnexa: three cases documenting a novel location of an emerging entity and further highlighting an ambiguous misleading immunophenotype

EWSR1/FUS-CREB-rearranged mesenchymal neoplasms are an emerging heterogeneous group of soft tissue tumors that encompasses low-grade lesions (angiomatoid fibrous histiocytoma/AFH) and a group of...
Virchows Arch - issue: 6 - volume: 482 - pages: 967-974.

Paladino, NC.  et al. 2023

The pre-thyroidectomy surgeon's checklist. Recommendations of the AFC>E (Association francophone de chirurgie endocrinienne), with the SFE (Société française d'endocrinologie) and the SFMN (Société française de médecine nucléaire)

During the patient interview, signs of compression or invasion are sought out: dyspnea, dysphagia, dysphonia. The circumstances of discovery of the thyroid pathology are indicated. The surgeon must be...
J Visc Surg - issue: 3S - volume: 160 - pages: S65-S68.

Legrand, M.  et al. 2023

Superficial spindle cell tumour with TNC::PDGFD fusion is a distinct entity from dermatofibrosarcoma protuberans

Pathology - issue: 4 - volume: 55 - pages: 562-564.

Dormoy, A.  et al. 2023

Efficacy and Safety of Osilodrostat in Paraneoplastic Cushing Syndrome: A Real-World Multicenter Study in France

CONTEXT: Prospective studies have demonstrated the efficacy of osilodrostat in Cushing disease. No study has evaluated osilodrostat in a series of patients with paraneoplastic Cushing syndrome/ectopic...
J Clin Endocrinol Metab - issue: 6 - volume: 108 - pages: 1475-1487.

Wanert, C.  et al. 2023

Genetic profile and genotype-phenotype correlations in childhood cardiomyopathy

Background: Genetic cardiomyopathy is a rare disease in childhood. Aims: To analyse clinical and genetic aspects of a paediatric cardiomyopathy population, and to establish genotype-phenotype...
Arch Cardiovasc Dis. - issue: 6-7 - volume: 116 - pages: 309-315.

Ballouhey, O.  et al. 2023

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of...
Biomedicines - issue: 5 - volume: 11 - pages: 1438.

Cuny, T.  et al. 2023

Imaging of multiple endocrine neoplasia type 1 patients in the era of somatostatin receptor positron emission tomography-computed tomography: "no place to hide for neuroendocrine tumours"

Eur J Endocrinol - issue: 5 - volume: 188 - pages: C9-C10.

Mohammedi, K.  et al. 2023

Evidence of persistent mild hypercortisolism in patients medically treated for Cushing's disease: the Haircush study

CONTEXT: Cortisol-lowering drugs may not restore a normal cortisol secretion in Cushing's disease (CD). OBJECTIVE: Assess the long-term cortisol exposure in medically treated CD patients using...
J Clin Endocrinol Metab - issue: - volume: - pages: dgad251.

El-Bazzal, L.  et al. 2023

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory neurons or Schwann cells of the peripheral nervous...
Brain - issue: 5 - volume: 146 - pages: 1844-1858.