MMG PUBLICATIONS

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Results: 2253  publications found.

Danielsson, A.  et al. 2019

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

Pallidal deep brain stimulation is an established treatment in dystonia. Available data on the effect in DYT-THAP1 dystonia (also known as DYT6 dystonia) are scarce and long-term follow-up studies are...
- issue: 12 - volume: 8 - pages: .

Nair, P.  et al. 2019

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
- issue: 4 - volume: 8 - pages: 252-255.

Denis, JA.  et al. 2019

Development of molecular analyzes by digital PCR for clinical practice: positioning, current applications and perspectives

This review is the second part of the workshop on digital PCR (dPCR) proposed by the working group of the French society of clinical biology. The first part of the paper discusses the advantages and...
- issue: 6 - volume: 77 - pages: 619-637.

Nair, P.  et al. 2019

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
J Pediatr Genet - issue: 4 - volume: 8 - pages: 252-256.

Nair, P.  et al. 2019

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review

Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old...
J Pediatr Genet - issue: 4 - volume: 8 - pages: 252-256.

Piche, 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.

Piche, 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...
- issue: 21 - volume: 18 - pages: 2828-2848.

Katsogiannou, M.  et al. 2019

Integrative proteomic and phosphoproteomic profiling of prostate cell lines

Background Prostate cancer is a major public health issue, mainly because patients relapse after androgen deprivation therapy. Proteomic strategies, aiming to reflect the functional activity of cells,...
PLoS ONE - issue: 11 - volume: 14 - pages: 25.

Magdinier, F.  et al. 2019

Marseille welcomes the FSHD Society International Research Conference

- issue: 2 - volume: 35 - pages: 55-59.

Valassi, E.  et al. 2019

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

- issue: 5 - volume: 181 - pages: 461-472.

Vergier, J.  et al. 2019

Pituitary stalk interruption syndrome: etiology and clinical manifestations

- 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)

- 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.

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.