PUBLICATIONS of MMG

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Résultats : 3220  publications trouvées.

Gorokhova, S.  et al. 2019

Significant contribution of intragenic deletions to ARID1B mutation spectrum

- issue: 11 - volume: 21 - pages: 2654-2655.

Megarbane, A.  et al. 2019

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

- issue: 11 - volume: 62 - pages: .

Saunders, G.  et al. 2019

Leveraging European infrastructures to access 1 million human genomes by 2022

- issue: 11 - volume: 20 - pages: 692+.

Vergier, J.  et al. 2019

Fertility preservation in Turner syndrome: Karyotype does not predict ovarian response to stimulation

- issue: 5 - volume: 91 - pages: 646-651.

Pucéat, M.  et al. 2019

[The primary cilia at the heart of mitral valve prolapse pathogeny]

Med Sci (Paris) - issue: 11 - volume: 35 - pages: 836-838.

Piché, J.  et al. 2019

The expanding phenotypes of cohesinopathies: one ring to rule them all!

Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this...
Cell Cycle - issue: 21 - volume: 18 - pages: 2828-2848.

Valassi, E.  et al. 2019

High mortality within 90 days of diagnosis in patients with Cushing's syndrome: results from the ERCUSYN registry.

OBJECTIVE: Patients with Cushing's syndrome (CS) have increased mortality. The aim of this study was to evaluate the causes and time of death in a large cohort of patients with CS and to establish...
Eur J Endocrinol - issue: 5 - volume: 181 - pages: 461-472.

Vergier, J.  et al. 2019

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations.

Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It...
Eur J Endocrinol - issue: 5 - volume: 181 - pages: R199-R209.

Valassi, E.  et al. 2019

High mortality within 90 days of diagnosis in patients with Cushing's syndrome: results from the ERCUSYN registry

Objective: Patients with Cushing's syndrome (CS) have increased mortality. The aim of this study was to evaluate the causes and time of death in a large cohort of patients with CS and to establish...
- issue: 5 - volume: 181 - pages: 461-472.

Vergier, J.  et al. 2019

Pituitary stalk interruption syndrome: etiology and clinical manifestations

Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It...
- issue: 5 - volume: 181 - pages: R199-R209.

Gorokhova, S.  et al. 2019

Significant contribution of intragenic deletions to ARID1B mutation spectrum

- issue: 11 - volume: 21 - pages: 2654-2655.

Megarbane, A.  et al. 2019

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a “molar tooth...
- issue: 11 - volume: 62 - pages: .

Saunders, G.  et al. 2019

Leveraging European European infrastructures to access 1 million human genomes by 2022

Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine...
- issue: 11 - volume: 20 - pages: 692-701.

Vergier, J.  et al. 2019

Fertility preservation in Turner syndrome: Karyotype does not predict ovarian response to stimulation

Objective Turner syndrome (TS) is responsible for gonadal dysgenesis with high risk of premature ovarian insufficiency. Little is known about fertility preservation (FP) strategies is this population....
- issue: 5 - volume: 91 - pages: 646-651.

Mégarbané, A.  et al. 2019

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth...
Eur J Med Genet - issue: 11 - volume: 62 - pages: 103576.

Magdinier, F.  et al. 2019

[Marseille welcomes the FSHD Society International Research Conference].

Neuromuscul Disord . - issue: 29 - volume: 10 - pages: 811-817.

Mezouar, S.  et al. 2019

Full-Term Human Placental Macrophages Eliminate Coxiella burnetii Through an IFN-gamma Autocrine Loop

- issue: - volume: 10 - pages: .

Mezouar, S.  et al. 2019

Full-Term Human Placental Macrophages Eliminate Coxiella burnetii Through an IFN-gamma Autocrine Loop

The intracellular bacterium Coxiella burnetii is responsible for Q fever, an infectious disease that increases the risk of abortion, preterm labor, and stillbirth in pregnant women. It has been shown...
- issue: - volume: 10 - pages: .

Nicolle, R.  et al. 2019

Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

- issue: - volume: 10 - pages: .

Nicolle, R.  et al. 2019

Integrated molecular characterization of chondrosarcoma reveals critical determinants of disease progression

Chondrosarcomas are primary cancers of cartilaginous tissue with highly contrasting prognoses. These tumors are defined by recurrent mutations in the IDH genes and other genetic alterations including...
- issue: - volume: 10 - pages: .