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Article
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart def...
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Article
Open AccessCNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders
Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individua...
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Article
Multiethnic involvement in autosomal-dominant optic atrophy in Singapore
Autosomal-dominant optic atrophy (ADOA), often associated with mutations in the OPA1 gene (chromosome 3q28-q29) is rarely reported in Asia. Our aim was to identify and describe this condition in an Asian populati...
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Chapter
In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History
Niemann–Pick type C (NPC) disease is a recessive disorder that results in unesterified cholesterol accumulating in the lysosomal and late endosomal system. It is caused by mutations in NPC1 or NPC2 genes and lead...
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Article
Reliable femoral frame construction based on MRI dedicated to muscles position follow-up
In vivo follow-up of muscle shape variation represents a challenge when evaluating muscle development due to disease or treatment. Recent developments in muscles reconstruction techniques indicate MRI as a cl...
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Article
Open AccessQubit entanglement between ring-resonator photon-pair sources on a silicon chip
Entanglement—one of the most delicate phenomena in nature—is an essential resource for quantum information applications. Scalable photonic quantum devices must generate and control qubit entanglement on-chip, ...
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Article
On-chip quantum interference between silicon photon-pair sources
Large-scale integrated quantum photonic technologies1,2 will require on-chip integration of identical photon sources with reconfigurable waveguide circuits. Relatively complex quantum circuits have been demonstra...
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Article
Fetal intracerebral hemorrhage and cataract: think COL4A1
The COL4A1 gene encodes the alpha1 chain of type IV collagen, a crucial component of nearly all basement membranes. Mutations in COL4A1 were first associated with cerebral microangiopathy and familial porencephal...
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Chapter
Kinetic Analyses Guide the Therapeutic Decision in a Novel Form of Moderate Aromatic Acid Decarboxylase Deficiency
Background: Aromatic amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive disorder resulting in a combined dopamine and serotonin deficiency. About 50% of the cases set in the n...
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Article
Sphère odontognathique et thérapies manuelles
Les pathologies de la sphère odontognathique, accessibles aux thérapies manuelles, ne se limitent pas aux seuls dysfonctionnements de l’appareil manducateur (DAM). Les contraintes générées par les traitements ...
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Article
Algies pelvipérinéales et thérapies manuelles
Les douleurs pelvipérinéales sont sous-évaluées et invalidantes. Leurs manifestations peuvent limiter de manière significative l’activité des patients qui en sont victimes. Compte tenu de la richesse de l’inne...
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Article
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Bardet–Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and extensive genetic heterogeneity. To date, 14 BBS genes ha...
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Article
3D-patient-specific geometry of the muscles involved in knee motion from selected MRI images
Patient-specific muscle geometry is not only an interesting clinical tool to evaluate different pathologies and treatments, but also provides an essential input data to more realistic musculoskeletal models. T...
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Article
Open AccessPrognostic molecular markers with no impact on decision-making: the paradox of gliomas based on a prospective study
This study assessed the prognostic value of several markers involved in gliomagenesis, and compared it with that of other clinical and imaging markers already used. Four-hundred and sixteen adult patients with...
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Chapter and Conference Paper
VEGA: A Visible Spectrograph and Polarimeter for the VLTI
The ESO/VLTI has now clearly a position of world leader in the domain of ground-based optical interferometry. With four 8.2 m telescopes and two (four) 1.8 m telescopes, the Paranal Observatory is without any ...
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Chapter and Conference Paper
Searching for VLTI Calibrators with the JMMC’s Search Calibrators Tool
A new version of ASPRO “Virtual observatory” companion tool looking for possible calibrators in the vicinity of a science object has been released. This user dedicated software creates an evolutive catalog of ...
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Chapter and Conference Paper
LMC Cepheids with the VLTI
We investigate the feasibility of applying the Interferometric Baade Wesselink method on LMC cepheids with the VLTI
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Chapter and Conference Paper
First AMBER/VLTI Observations of Hot Massive Stars
AMBER is the first near infrared focal instrument of the VLTI. It combines three telescopes and produces spectrally resolved interferometric measures. This paper discusses some preliminary results of the first...
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Chapter and Conference Paper
Optical Investigation of a Connecting-rod Big End Bearing Model Under Dynamic Loads
A new experimental device used for optical investigations of transient elastohydrodynamic behaviour of connecting-rod big end bearing models is presented. Photoelasticity method and digital image...
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Chapter and Conference Paper
A Radiative Wind Model for Active Hot Stars
Radiative wind from active hot stars has been studied for more than two decades. During this period, numerous models which try to fit a small number of observables as closely as possible have been developed, s...
