Hubert, F. et al. 2018 FGF10 Signaling in Heart Development, Homeostasis, Disease and Repair Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and... - issue: - volume: 9 - pages: .
Brue, T. et al. 2018 Diabetes in patients with acromegaly treated with pegvisomant: observations from acrostudy PURPOSE: To explore the effects of pegvisomant (PEGV) on glucose metabolism in patients with acromegaly within ACROSTUDY, an international, observational, prospective safety surveillance study.... Endocrine - issue: - volume: - pages: .
Abbas, S. et al. 2018 Breast cancer risk associated with BRCA1/2 variants in the Pakistani population BACKGROUND: Majority of the BRCA1 and BRCA2 mutations are associated with the risk of sporadic and familial breast cancer. Since these genes are significant in DNA repair mechanisms, we focused... Breast Cancer - 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: .
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.
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.
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.
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: .
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.
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.
Maurice, F. et al. 2018 Cushing Syndrome Is Associated With Subclinical LV Dysfunction and Increased Epicardial Adipose Tissue. J Am Coll Cardiol - issue: 18 - volume: 72 - pages: 2276-2277.
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.