MMG PUBLICATIONS

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Results: 3220  publications found.

van Eif, VW. W.  et al. 2019

Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic program

- issue: 8 - volume: 146 - pages: .

Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

- issue: 4 - volume: 6 - pages: 642-654.

Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

- issue: 4 - volume: 21 - pages: 837-849.

Vogels, R.  et al. 2019

Prognostic significance of NAB2-STAT6 fusion variants and TERT promotor mutations in solitary fibrous tumors/hemangiopericytomas of the CNS: not (yet) clear

- issue: 4 - volume: 137 - pages: 679-682.

El-Bazzal, L.  et al. 2019

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

- issue: 4 - volume: 62 - pages: 259-264.

Castinetti, F.  et al. 2019

Thyroiditis and immune check point inhibitors: the post-marketing experience using the French National Pharmacovigilance database

- issue: 2 - volume: 33 - pages: 239-240.

Costinetti, F.  et al. 2019

2018 Consensus of the French Society of Endocrinology: endocrine toxicities of cancer immunotherapies

- issue: 2 - volume: 23 - pages: 31-36.

Castinetti, F.  et al. 2019

Thyroiditis and immune check point inhibitors: the post-marketing experience using the French National Pharmacovigilance database.

Fundam Clin Pharmacol - issue: 2 - volume: 33 - pages: 239-240.

Graillon, T.  et al. 2019

Functioning gonadotroph adenoma with severe ovarian hyperstimulation syndrome: A new emergency in pituitary adenoma surgery? Surgical considerations and literature review.

The authors reported 2
Ann Endocrinol (Paris) - issue: 2 - volume: 80 - pages: 122-127.

Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Objective Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann. Clin. Transl. Neurol. - issue: 4 - volume: 6 - pages: 642-654.

Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann Clin Transl Neurol - issue: 4 - volume: 6 - pages: 642-654.

El-Bazzal, L.  et al. 2019

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole...
Eur J Med Genet - issue: 4 - volume: 62 - pages: 259-264.

Albarel, F.  et al. 2019

Daily life, needs and expectations of patients with acromegaly in France: An on-line survey

Acromegaly can impair quality of life, but impact on patients' daily life, needs and expectations have been poorly explored. Objectives. - To better understand the impact of acromegaly on patients'...
- issue: 2 - volume: 80 - pages: 110-116.

Graillon, T.  et al. 2019

Functioning gonadotroph adenoma with severe ovarian hyperstimulation syndrome: A new emergency in pituitary adenoma surgery? Surgical considerations and literature review

The authors reported 2 cases of functioning gonadotroph pituitary adenoma (FGPA) revealed by an ovarian hyperstimulation syndrome (OHSS) in young women. In the first case, OHSS was observed after GnRH...
- issue: 2 - volume: 80 - pages: 122-127.

van Eif, VW. W.  et al. 2019

Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic program

The rate of contraction of the heart relies on proper development and function of the sinoatrial node, which consists of a small heterogeneous cell population, including Tbx3(+) pacemaker cells. Here,...
- issue: 8 - volume: 146 - pages: .

Dominov, JA.  et al. 2019

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann Clin Transl Neurol - issue: 4 - volume: 6 - pages: 642-654.

Mignot, C.  et al. 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Purpose: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. Methods: We...
- issue: 4 - volume: 21 - pages: 837-849.

Vogels, R.  et al. 2019

Prognostic significance of NAB2-STAT6 fusion variants and TERT promotor mutations in solitary fibrous tumors/hemangiopericytomas of the CNS: not (yet) clear

- issue: 4 - volume: 137 - pages: 679-682.

El-Bazzal, L.  et al. 2019

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole...
- issue: 4 - volume: 62 - pages: 259-264.

Castinetti, F.  et al. 2019

Thyroiditis and immune check point inhibitors: the post-marketing experience using the French National Pharmacovigilance database

- issue: 2 - volume: 33 - pages: 239-240.