MMG PUBLICATIONS

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Results: 1707  publications found.

Bacquet, J.  et al. 2018

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

- issue: 10 - volume: 8 - pages: e021632.


Piard, J.  et al. 2018

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

PurposeGermline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We...
- issue: - volume: - pages: .


Romanet, P.  et al. 2018

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the...
J. Clin. Endocrinol. Metab. - issue: - volume: - pages: .


Castinetti, F.  et al. 2018

Endocrine side-effects of new anticancer therapies: Overall monitoring and conclusions

The present final consensus statement of the French Society of Endocrinology lays out the assessments that are to be systematically performed before and during anticancer treatment by immunotherapy,...
- issue: 5 - volume: 79 - pages: 591-595.


Romanet, P.  et al. 2018

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the...
- issue: - volume: - pages: .


Allach El Khattabi, L.  et al. 2018

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

The clinical significance of 16p13.11 duplications remains controversial while frequently detected in patients with developmental delay (DD), intellectual deficiency (ID) or autism spectrum disorder...
- issue: - volume: - pages: .


Mignot, C.  et al. 2018

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

This Article was originally published under Nature Research's License to Publish, but has now been made available under a CC BY 4.0 license. The PDF and HTML versions of the Article have been modified...
Genet. Med. - issue: - volume: - pages: .


Zhao, Y.  et al. 2018

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD)...
Am. J. Med. Genet. A - issue: 10 - volume: 176 - pages: 2172-2181.


Pinard, A.  et al. 2018

Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect

Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart diseases found at birth. HOXB1 encodes a...
Mol Biol Rep - issue: 5 - volume: 45 - pages: 1507-1513.


Briet, C.  et al. 2018

Expert opinion on pituitary complications in immunotherapy

Hypophysitis is a frequent toxic endocrine side-effect of immunotherapy. Prevalence is higher with anti-CTLA-4 antibodies (4-20%) or in association with PD-1 inhibitors (8%). Diagnosis is presumptive,...
Ann. Endocrinol. (Paris) - issue: 5 - volume: 79 - pages: 562-568.


Castinetti, F.  et al. 2018

Endocrine side-effects of new anticancer therapies: Overall monitoring and conclusions

The present final consensus statement of the French Society of Endocrinology lays out the assessments that are to be systematically performed before and during anticancer treatment by immunotherapy,...
Ann. Endocrinol. (Paris) - issue: 5 - volume: 79 - pages: 591-595.


Moore-Morris, T.  et al. 2018

Role of Epigenetics in Cardiac Development and Congenital Diseases

The heart is the first organ to be functional in the fetus. Heart formation is a complex morphogenetic process regulated by both genetic and epigenetic mechanisms. Congenital heart diseases (CHD) are...
Physiol Rev - issue: 4 - volume: 98 - pages: 2453-2475.


Jaouadi, H.  et al. 2018

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric...
J. Hum. Genet. - issue: 10 - volume: 63 - pages: 1077-1082.


Boucherie, Q.  et al. 2018

Proton pump inhibitors prescriptions in France: Main trends from 2006 to 2016 on French health insurance database

Because national data on proton pump inbibitors (PPIs) consumption in France are scarce and because there is a growing literature on potential adverse drug reaction induced by this pharmacological...
Therapie - issue: 5 - volume: 73 - pages: 385-388.


Boucherie, Q.  et al. 2018

Proton pump inhibitors prescriptions in France: Main trends from 2006 to 2016 on French health insurance database

Because national data on proton pump inbibitors (PPIs) consumption in France are scarce and because there is a growing literature on potential adverse drug reaction induced by this pharmacological...
- issue: 5 - volume: 73 - pages: 385-388.


Rochais, F.  et al. 2018

Régénération cardiaque : les leçons du développement

- issue: 271 - volume: 2018 - pages: 34-36.


Marzin, P.  et al. 2018

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

- issue: 9 - volume: 40 - pages: 768 - 774.


Marzin, P.  et al. 2018

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset...
Brain Dev. - issue: 9 - volume: 40 - pages: 768-774.


Shabana, NA.  et al. 2018

Genetic risk score (GRS) constructed from polymorphisms in the PON1, IL-6, ITGB3, and ALDH2 genes is associated with the risk of coronary artery disease in Pakistani subjects

BACKGROUND: Coronary artery disease (CAD) is a major killer in today's world. Pakistan is also affected by this non-communicable disease like other countries. It is a multifactorial disease and is...
Lipids Health Dis - issue: 1 - volume: 17 - pages: 224.


Albarel, F.  et al. 2018

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'...
Ann. Endocrinol. (Paris) - issue: - volume: - pages: .