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See detailX-fragile et Neurosciences cognitives : entre promesses et réalité.
Majerus, Steve ULiege

Conference (2012, November 16)

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See detailX-LAG : une nouvelle cause de gigantisme
Beckers, Albert ULiege

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, September)

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See detailX-LAG : une nouvelle cause de gigantisme
Beckers, Albert ULiege

Scientific conference (2015, October)

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See detailX-LAG ou comment ils sont devenus si grands ?
BECKERS, Albert ULiege

Scientific conference (2017, June 09)

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See detailX-LAG: How did they grow so tall?
BECKERS, Albert ULiege; Rostomyan, Liliya ULiege; Potorac, Iulia ULiege et al

in Annales d'Endocrinologie (2017)

X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset ... [more ▼]

X-linked acrogigantism (XLAG) is a new, pediatric-onset genetic syndrome, due to Xq26.3 microduplications encompassing the GPR101 gene. XLAG has a remarkably distinct phenotype with disease onset occurring before the age of 5 in all cases described to date, which is significantly younger than in other forms of pituitary gigantism. These patients have mixed GH and prolactin positive adenomas and/or mixed-cell hyperplasia and highly elevated levels of GH/IGF-1 and prolactin. Given their particularly young age of onset, the significant GH hypersecretion can lead to a phenotype of severe gigantism with very advanced age-specific height Z-scores. If not adequately treated in childhood, this condition results in extreme final adult height. XLAG has a clinical course that is highly similar to some of the tallest people with gigantism in history. « X-linked acrogigantism » (XLAG) est un syndrome pédiatrique récemment décrit, lié à des microduplications du chromosome Xq26.3, englobant le gène GPR101, responsable de l’affection. Les patients XLAG présentent un phénotype remarquablement distinct des autres cas de gigantisme hypophysaire. Dans tous les cas décrits, la maladie s’exprime avant 5 ans soit beaucoup plus tôt que dans les autres formes. Les patients ont habituellement un gros adénome ou une hyperplasie mixte pour la GH et la prolactine et des taux très élevés de GH/IGF1 et prolactine. En raison de son début très précoce, l’hypersécrétion importante de GH peut conduire à un gigantisme extrêmement sévère avec un Z-score très important pour l’âge. Si cette condition n’est pas traitée pendant l’enfance, elle peut conduire à une taille finale extrême. XLAG montre une évolution clinique similaire à celle observée chez les géants les plus grands de l’histoire. [less ▲]

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See detailX-linked acro-gigantism (X-LAG) : A new form of infant-onset pituitary gigantism
Trivellin, G; Daly, Adrian ULiege; Faucz, FR et al

in Endocrine Abstracts (2015, May)

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See detailX-Linked acro-gigantism (X-LAG) due to microduplications of chromosome Xq26 : A new disorder and implications for acromegaly
Trivellin, G; Daly, AF; Faucz, FR et al

in Abstract book - ENDO 2015 (2015, March)

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See detailX-Linked acro-gigantism (X-LAG) syndrome : a new form of infant-onset pituitary gigantism
Stratakis, CA; Trivellin, G; Rostomyan, Liliya ULiege et al

in Abstract book - 14th International Pituitary Congress (2015, March)

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See detailX-Linked acro-gigantism (X-LAG) syndrome : two new cases with long-term follow-up
Daly, Adrian ULiege; Cuny, T; Rabl, w et al

in Abstract book - 4th ENEA Workshop topic : acromegaly (2015)

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See detailX-linked acrogigantism syndrome
Beckers, Albert ULiege

Scientific conference (2017, May)

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See detailX-linked acrogigantism syndrome : Clinical Profile and Therapeutic responses
Beckers, Albert ULiege; Lodish, MB; Trivellin, G et al

in Endocrine-Related Cancer (2015), 22

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See detailX-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
Senderek, J.; Bergmann, C.; Quasthoff, S. et al

in Acta neuropathologica (1998), 95(5), 443-9

X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data, CMTX patients often meet the criteria of ... [more ▼]

X-linked Charcot-Marie-Tooth neuropathy (CMTX) is caused by mutations in the connexin32 gene on Xq13. Because of overlapping morphological and clinical data, CMTX patients often meet the criteria of autosomal-dominant CMT2, the neuronal type of CMT. Hence, it might be useful to analyse the connexin32 gene in suspected CMT2 patients when there is no male-to-male transmission. We selected a cohort of 30 patients who were considered having CMT2 on the basis of previous clinical and histopathological evaluation. DNA was extracted from paraffin-embedded sural nerve biopsy samples and screened for connexin32 mutations to verify the possible diagnosis of CMTX. In 2 patients mutations were found corresponding to amino acid substitutions of arginine for tryptophan in codon 15 and arginine for glutamine in codon 22 of connexin32. This study illustrates that archival material allows genetic classification of suspected CMT cases. Furthermore, there is additional proof that connexin32 mutations represent the underlying genetic defect in some cases of predominantly neuronal CMT. [less ▲]

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See detailX-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).
Senderek, J.; Hermanns, B.; Bergmann, C. et al

in Journal of the neurological sciences (1999), 167(2), 90-101

The sensorimotor neuropathy of the Charcot-Marie-Tooth type (CMT) is the most common hereditary disorder of the peripheral nervous system. The X-linked dominant form of CMT (CMTX) is associated with ... [more ▼]

The sensorimotor neuropathy of the Charcot-Marie-Tooth type (CMT) is the most common hereditary disorder of the peripheral nervous system. The X-linked dominant form of CMT (CMTX) is associated with mutations in the gene for the gap junction protein connexin32. We examined four CMTX pedigrees two of which had potentially novel mutations in the only coding exon of connexin32. One previously unreported missense mutation, Ala39Val, was found in a family displaying a CMT phenotype with additional upper limb postural tremor reminiscent of a Roussy-Levy syndrome. A novel single base insertion, 679insT, is among the first mutations found in the fourth transmembrane domain of connexin32. Frameshift and premature stop of translation are supposed to result in a non-functional carboxy-terminus. Two further families had the known missense mutations Arg15Trp and Arg22Gln. Several female carriers were found normal on clinical presentation, however, the genotype was paralleled by decreased nerve conduction velocities (NCV) and slowed central conduction of brain stem auditory evoked responses (BAER). Median motor NCVs showed mild (in women) to intermediate (in males) reduction, indicating a peripheral neuropathy with a predominating axonal component. Nerve biopsy findings were consistent with the electrophysiological data showing a marked loss of large myelinated fibres and clusters of regenerating axons. Electron microscopy revealed various alterations of the axoglial attachment zone. This suggests defective axon-Schwann cell interactions which may induce the axonopathy in CMTX. [less ▲]

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See detailX-ray AGN in the XMM-LSS galaxy clusters: No evidence of AGN suppression
Koulouridis, E.; Plionis, M.; Melnyk, O. et al

in Astronomy and Astrophysics (2014), 567

We present a study of the overdensity of X-ray-selected active galactic nuclei (AGN) in 33 galaxy clusters in the XMM-LSS field (The XMM-Newton Large Scale Structure Survey), up to redshift z = 1.05 and ... [more ▼]

We present a study of the overdensity of X-ray-selected active galactic nuclei (AGN) in 33 galaxy clusters in the XMM-LSS field (The XMM-Newton Large Scale Structure Survey), up to redshift z = 1.05 and further divided into a lower (0.14 ≤ z ≤ 0.35) and a higher redshift (0.43 ≤ z ≤ 1.05) subsample. Previous studies have shown that the presence of X-ray-selected AGN in rich galaxy clusters is suppressed, since their number is significantly lower than what is expected from the high galaxy overdensities in the area. In the current study we have investigated the occurrence of X-ray-selected AGN in low (<Lx, bol> = 2.7 - 1043 erg/s) and moderate (<Lx, bol> = 2.4 × 1044 erg/s) X-ray luminosity galaxy clusters in an attempt to trace back the relation between high-density environments and nuclear activity. Owing to the wide contiguous XMM-LSS survey area, we were able to extend the study to the cluster outskirts. We therefore determined the projected overdensity of X-ray point-like sources around each cluster out to 6r500 radius, within δr500 = 1 annulus, with respect to the field expectations based on the X-ray source log N - log S of the XMM-LSS field. To provide robust statistical results we also conducted a consistent stacking analysis separately for the two z ranges. We investigated whether the observed X-ray overdensities are to be expected thanks to the obvious enhancement of galaxy numbers in the cluster environment by also estimating the corresponding optical galaxy overdensities, and we assessed the possible enhancement or suppression of AGN activity in clusters. We find a positive X-ray projected overdensity in both redshift ranges at the first radial bins, which however has the same amplitude as that of optical galaxies. Therefore, no suppression (or enhancement) of X-ray AGN activity with respect to the field is found, in sharp contrast to previous results based on rich galaxy clusters, implying that the mechanisms responsible for the suppression are not as effective in lower density environments. After a drop to roughly the background level between 2 and 3r500, the X-ray overdensity exhibits a rise at larger radii, significantly greater than the corresponding optical overdensity. The radial distance of this overdensity "bump", corresponding to ∼1.5-3 Mpc, depends on the richness of the clusters, as well as on the overall X-ray overdensity profile. Finally, using the redshift information, photometric or spectroscopic, of the optical counterparts, we derive the spatial overdensity profile of the clusters.We find that the agreement between X-ray and optical overdensities in the first radial bins is also suggested in the 3-dimensional analysis. However, we argue that the X-ray overdensity "bump" at larger radial distance is at least partially a result of flux boosting by gravitational lensing of background quasi-stellar objects, confirming previous results. For high-redshift clusters, the enhancement of X-ray AGN activity in their outskirts appears to be intrinsic. We argue that a spatial analysis is crucial for disentangling irrelevant phenomena affecting the projected analysis, but we are still not able to report statistically significant results on the spatial overdensity of AGN in clusters or their outskirts because we lack the necessary numbers. © ESO 2014. [less ▲]

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See detailX-ray analysis of the NMC-A beta-lactamase at 1.64-A resolution, a class A carbapenemase with broad substrate specificity
Swaren, Peter; Maveyraud, Laurent; Raquet, Xavier et al

in Journal of Biological Chemistry (1998), 273(41), 26714-26721

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See detailX-ray and optical spectroscopy of the massive young open cluster IC 1805
Rauw, Grégor ULiege; Nazé, Yaël ULiege

in Astronomy and Astrophysics (2016), 594(A82), 19

Context. Very young open clusters are ideal places to study the X-ray properties of a homogeneous population of early-type stars. In this respect, the IC 1805 open cluster is very interesting as it hosts ... [more ▼]

Context. Very young open clusters are ideal places to study the X-ray properties of a homogeneous population of early-type stars. In this respect, the IC 1805 open cluster is very interesting as it hosts the O4 If+ star HD 15570 thought to be in an evolutionary stage intermediate between a normal O-star and a Wolf-Rayet star. Aims: Such a star could provide a test for theoretical models aiming at explaining the empirical scaling relation between the X-ray and bolometric luminosities of O-type stars. Methods: We have observed IC 1805 with XMM-Newton and further collected optical spectroscopy of some of the O-star members of the cluster. Results: The optical spectra allow us to revisit the orbital solutions of BD+60° 497 and HD 15558, and provide the first evidence of binarity for BD+60° 498. X-ray emission from colliding winds does not appear to play an important role among the O-stars of IC 1805. Notably, the X-ray fluxes do not vary significantly between archival X-ray observations and our XMM-Newton pointing. The very fast rotator BD+60° 513, and to a lesser extent the O4 If+ star HD 15570 appear somewhat underluminous. Whilst the underluminosity of HD 15570 is only marginally significant, its amplitude is found to be compatible with theoretical expectations based on its stellar and wind properties. A number of other X-ray sources are detected in the field, and the brightest objects, many of which are likely low-mass pre-main sequence stars, are analyzed in detail. [less ▲]

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See detailThe X-ray bright massive stars in Cyg OB2
Nazé, Yaël ULiege; Cazorla, Constantin ULiege; Rauw, Grégor ULiege

Poster (2014, July 01)

As a complement to the results from the Cyg OB2 Chandra Legacy program, we present in this contribution the detailed analysis of the four X-ray bright massive stars dominating the cluster. Cyg OB2 #5, #8A ... [more ▼]

As a complement to the results from the Cyg OB2 Chandra Legacy program, we present in this contribution the detailed analysis of the four X-ray bright massive stars dominating the cluster. Cyg OB2 #5, #8A, and #9 are binary or multiple massive stars in the Cyg OB2 association displaying several peculiarities, such as bright X-ray emission and non-thermal radio emission. Our X-ray monitoring of these stars reveals the details of their behavior at high energies, which can be directly linked to wind-wind collisions (WWCs). In addition, the X-ray emission of Cyg OB2 #12, an evolved massive star, shows a long-term decrease, which could hint at the presence of a companion (with associated colliding winds) or indicate the return to quiescence of the system following a recent eruption. [less ▲]

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See detailX-ray Computed Tomography for Non-Destructive Testing
Wevers, Martine; Kerckhofs, Greet ULiege; Pyka, Gregory et al

in Proceedings iCT 2012 (2012)

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See detailX-ray Computed Tomography in the Presence of Arbitrary Focal Spot Intensity Distributions
Verly, Jacques ULiege

in Medical Physics (1980), 7(1), 27-34

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