MMG PUBLICATIONS

Use the tool below to browse our publications by keywords or/and by team or/and by year.

Follow then the link to consult a publication on PUBMED website.



Search publications





Results: 1693  publications found.

Mégarbané, A.  et al. 2018

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: - volume: - pages: .


Mégarbané, A.  et al. 2018

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: - volume: - pages: .


Perrin, A.  et al. 2018

[Towards an harmonization of diagnosis by NGS of neuromuscular diseases - Actions of the Molecular Genetics sub-group of FILNEMUS]

Med Sci (Paris) - issue: - volume: 34 Hors série n°2 - pages: 20-22.


Cuny, T.  et al. 2018

Role of the tumor microenvironment in digestive neuroendocrine tumors

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent a group of heterogeneous tumors whose incidence increased over the past few years. Around half of patients already present with...
Endocr. Relat. Cancer - issue: 11 - volume: 25 - pages: R519-R544.


Nair, P.  et al. 2018

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

- issue: 6 - volume: 6 - pages: 1041-1052.


De Bono, C.  et al. 2018

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field

The arterial and venous poles of the mammalian heart are hotspots of congenital heart defects (CHD) such as those observed in 22q11.2 deletion (or DiGeorge) and Holt-Oram syndromes. These regions of...
- issue: 21 - volume: 27 - pages: 3747-3760.


Romanet, P.  et al. 2018

Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome

The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and Mc Cune Albright syndrome (FD/MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet PCR™...
- issue: - volume: - pages: .


Bacquet, J.  et al. 2018

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

PURPOSE: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted...
BMJ Open - issue: 10 - volume: 8 - pages: e021632.


Bacquet, J.  et al. 2018

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

PURPOSE: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted...
BMJ Open - issue: 10 - volume: 8 - pages: e021632.


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

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


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.