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See detailX ray in RDS with HFOV and surfactant: what has changed ?
Rausin, L; Khamis, J; Bertand, JM et al

Conference (1997, October 24)

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See detailAn X Ray of Money Market Fund Risks
Bodson, Laurent ULiege; Debatty, Philippe; Masquelier, F.

in Treasury Management International Magazine (2008)

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See detailX(5568) as a $su \bar d \bar b$ tetraquark in a simple quark model
Stancu, Floarea ULiege

in Journal of Physics. G, Nuclear and Particle Physics (2016), 43

The $S$-wave eigenstates of tetraquarks of type $s u \bar d \bar b$ with J$^{P}$ = 0$^{+}$, 1$^{+}$ and 2$^{+}$ are studied within a simple quark model with chromomagnetic interaction and effective quark ... [more ▼]

The $S$-wave eigenstates of tetraquarks of type $s u \bar d \bar b$ with J$^{P}$ = 0$^{+}$, 1$^{+}$ and 2$^{+}$ are studied within a simple quark model with chromomagnetic interaction and effective quark masses extracted from meson and baryon spectra. It is tempting to see if this spectrum can accommodate the new narrow structure X(5568), observed by the D\O~~Collaboration, but not confirmed by the LHCb Collaboration. If it exists, such a tetraquark is a system with four different flavors and its study can improve our understanding of multiquark systems. The presently calculated mass of X(5568) agrees quite well with the experimental value of he D\O~~Collaboration. Predictions are also made for the spectrum of the charmed partner $s u \bar d \bar c$. However we are aware of the difficulty of extracting effective quark masses, from mesons and baryons, to be used in multiquark systems. [less ▲]

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See detailX-FEM : Aux frontières du réel
Duboeuf, Frédéric ULiege

Speech/Talk (2016)

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See detailX-FEM explicit dynamics for constant strain elements to alleviate mesh constraints on internal or external boundaries
Rozycki, P.; Moes, N.; Béchet, Eric ULiege et al

in Computer Methods in Applied Mechanics and Engineering (2008), 197(5), 349-363

This paper deals with the use of the extended Finite Element Method (X-FEM) for rapid dynamic problems. To solve the equations of motion, a common technique is the explicit direct integration with a ... [more ▼]

This paper deals with the use of the extended Finite Element Method (X-FEM) for rapid dynamic problems. To solve the equations of motion, a common technique is the explicit direct integration with a Newmark scheme. Since this temporal scheme is only conditionally stable, the critical time step must be determined. It is generally induced by mesh constraints. The idea of the paper is to weaken constraints on mesh generation algorithms so that the critical time step is as large as possible. Using the X-FEM one allows a non-conformity between mesh and discontinuities such as cracks, holes or interfaces. In a first part, we present a summary about direct integration schemes and about the eXtended Finite Element Method. Then, we focus on the theoretical description of a ID X-FEM finite element and its generalization to 2D and 3D finite elements. Then, dynamic numerical simulations are shown. They concern structures under impact with holes or external boundaries not exactly matched by the mesh. Comparisons are made with numerical results coming from the ABAQUS software. It shows that developments are satisfactory. We conclude with some outlooks concerning this work. (c) 2007 Elsevier B.V. All rights reserved. [less ▲]

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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 adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.
Lumaka Zola, Aimé ULiege; Mubungu, Gerrye; Nsibu, Celestin et al

in European Journal of Pediatrics (2012), 171(2), 267-70

Adrenal hypoplasia congenita (AHC) is a rare disease. The X-linked form of AHC is caused by deletions or mutations in DAX1 gene and has a variable clinical presentation. To date, no data on X-linked AHC ... [more ▼]

Adrenal hypoplasia congenita (AHC) is a rare disease. The X-linked form of AHC is caused by deletions or mutations in DAX1 gene and has a variable clinical presentation. To date, no data on X-linked AHC in central Africa are available. Here, we report a Congolese pedigree with several cases of unexplained deaths of male infants. A careful analysis of the pedigree of this family lead to the recognition of an X-linked inheritance pattern, with subsequent confirmation in a female heterozygous carrier of a DAX1 missense mutation c.1274G>T, (p.Arg425Ile).The diagnosis of this condition remains challenging in a developing country, since the manifestations of AHC overlap with those of the much more frequently occurring infections; darkening of the skin is difficult to evaluate and there is a lack of access to routine endocrinological testing. The diagnosis was eventually made based on the family pedigree, evoking an X-linked inheritance pattern. This illustrates the necessity for medical and clinical genetics to be part of the curriculum of medical school in developing countries. [less ▲]

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See detailX-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige, Judith; Storey, Helen; Il Cheong, Hae et al

in PLoS ONE (2016), 11(9), 0161802

Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for ... [more ▼]

Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic laboratories worldwide, in addition to all published COL4A5, COL4A3 and COL4A4 variants in the LOVD databases. It also determined genotype-phenotype correlations for variants where clinical data were available. Individuals were referred for genetic testing where Alport syndrome was suspected clinically or on biopsy (renal failure, hearing loss, retinopathy, lamellated glomerular basement membrane), variant pathogenicity was assessed using currently-accepted criteria, and variants were examined for gene location, and age at renal failure onset. Results were compared using Fisher's exact test (DNA Stata). Altogether 754 new DNA variants were identified, an increase of 25%, predominantly in people of European background. Of the 1168 COL4A5 variants, 504 (43%) were missense mutations, 273 (23%) splicing variants, 73 (6%) nonsense mutations, 169 (14%) short deletions and 76 (7%) complex or large deletions. Only 135 of the 432 Gly residues in the collagenous sequence were substituted (31%), which means that fewer than 10% of all possible variants have been identified. Both missense and nonsense mutations in COL4A5 were not randomly distributed but more common at the 70 CpG sequences (p<10-41 and p<0.001 respectively). Gly>Ala substitutions were underrepresented in all three genes (p< 0.0001) probably because of an association with a milder phenotype. The average age at end-stage renal failure was the same for all mutations in COL4A5 (24.4 +/-7.8 years), COL4A3 (23.3 +/- 9.3) and COL4A4 (25.4 +/- 10.3) (COL4A5 and COL4A3, p = 0.45; COL4A5 and COL4A4, p = 0.55; COL4A3 and COL4A4, p = 0.41). For COL4A5, renal failure occurred sooner with non-missense than missense variants (p<0.01). For the COL4A3 and COL4A4 genes, age at renal failure occurred sooner with two non-missense variants (p = 0.08, and p = 0.01 respectively). Thus DNA variant characteristics that predict age at renal failure appeared to be the same for all three Alport genes. Founder mutations (with the pathogenic variant in at least 5 apparently- unrelated individuals) were not necessarily associated with a milder phenotype. This study illustrates the benefits when routine diagnostic laboratories share and analyse their data. [less ▲]

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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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