PUBLICATIONS of MMG

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Résultats : 4196  publications trouvées.

Grapperon, A.  et al. 2019

Guillain-Barre syndrome subtypes: A clinical electrophysiological study of 100 patients

- issue: 1-2 - volume: 175 - pages: 73-80.

Romanet, P.  et al. 2019

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 McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase...
J Pediatr - issue: - volume: 205 - pages: 281-285.e4.

Castinetti, F.  et al. 2019

French Endocrine Society Guidance on endocrine side effects of immunotherapy.

The management of cancer patients has changed due to the considerably more frequent use of immune checkpoint inhibitors (ICPIs). However, the use of ICPI has a risk of side effects, particularly...
Endocr Relat Cancer - issue: 2 - volume: 26 - pages: G1-G18.

Jullien, N.  et al. 2019

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.

LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant...
Eur J Hum Genet - issue: 2 - volume: 27 - pages: 216-225.

Grigioni, F.  et al. 2019

Long-Term Implications of Atrial Fibrillation in Patients With Degenerative Mitral Regurgitation

BACKGROUND Scientific guidelines consider atrial fibrillation (AF) complicating degenerative mitral regurgitation (DMR) a debated indication for surgery. OBJECTIVES This study analyzed the...
- issue: 3 - volume: 73 - pages: 264-274.

Grigioni, F.  et al. 2019

Long-Term Implications of Atrial Fibrillation in Patients With Degenerative Mitral Regurgitation

- issue: 3 - volume: 73 - pages: 264-274.

Jalkh, N.  et al. 2019

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of molecular biology...
- issue: - volume: 12 - pages: .

Jalkh, N.  et al. 2019

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

BACKGROUND: The past few decades have witnessed a tremendous development in the field of genetics. The implementation of next generation sequencing (NGS) technologies revolutionized the field of...
BMC Med Genomics - issue: 1 - volume: 12 - pages: 11.

Jalkh, N.  et al. 2019

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

- issue: - volume: 12 - pages: .

Laberthonnière, C.  et al. 2019

Bring It to an End: Does Telomeres Size Matter?

Telomeres are unique nucleoprotein structures. Found at the edge of each chromosome, their main purpose is to mask DNA ends from the DNA-repair machinery by formation of protective loops. Through life...
Cells - issue: 1 - volume: 8 - pages: .

Laberthonniere, C.  et al. 2019

Bring It to an End: Does Telomeres Size Matter?

Telomeres are unique nucleoprotein structures. Found at the edge of each chromosome, their main purpose is to mask DNA ends from the DNA-repair machinery by formation of protective loops. Through life...
- issue: 1 - volume: 8 - pages: .

Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study

PurposeAcromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We...
- issue: 1 - volume: 63 - pages: 120-129.

Laberthonniere, C.  et al. 2019

Bring It to an End: Does Telomeres Size Matter?

- issue: 1 - volume: 8 - pages: .

Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study (vol 63, pg 120, 2019)

- issue: 1 - volume: 63 - pages: 130.

Caron, P.  et al. 2019

Correction to: Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study.

The original version of this article unfortunately contained a mistake in corresponding author name as Philippe Chanson in the affiliation section.
Endocrine - issue: 1 - volume: 63 - pages: 130.

Caron, P.  et al. 2019

Signs and symptoms of acromegaly at diagnosis: the physician's and the patient's perspectives in the ACRO-POLIS study.

PURPOSE: Acromegaly is characterized by a broad range of manifestations. Early diagnosis is key to treatment success, but is often delayed as symptomatology overlaps with common disorders. We...
Endocrine - issue: 1 - volume: 63 - pages: 120-129.

Asseeva, P.  et al. 2019

Value of (123)I/(99m)Tc-sestamibi parathyroid scintigraphy with subtraction SPECT/CT in primary hyperparathyroidism for directing minimally invasive parathyroidectomy.

BACKGROUND: Primary hyperparathyroidism/(PHPT) is one of the most common endocrinological conditions. Surgery remains the only curative option. We have evaluated the performance of double isotope...
Am J Surg - issue: 1 - volume: 217 - pages: 108-113.

Nair, P.  et al. 2019

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

We report on a girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature, facial dysmorphic features including...
Mol Syndromol - issue: 6 - volume: 9 - pages: 319-323.

Ehinger, Y.  et al. 2018

Rett syndrome from bench to bedside: recent advances.

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and...
F1000Res - issue: - volume: 7 - pages: 398.

Mignon-Ravix, C.  et al. 2018

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his...
Hum. Mutat. - issue: 7 - volume: 39 - pages: 934-938.