References of "Libioulle, Cécile"
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See detailInsuffisance ovarienne prématurée chez une femme symphalangie : études biologiques et génétiques
VALDES SOCIN, Hernan Gonzalo ULiege; Desir, J; LIBIOULLE, Cécile ULiege et al

in Annales d'Endocrinologie - Abstract book (2017, October)

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See detailLa déficience en hormone lutéinisante: ses conséquences sur la reproduction
VALDES SOCIN, Hernan Gonzalo ULiege; potorac, iulia; LIBIOULLE, Cécile ULiege et al

in Urologic (2017), 13(1), 18-23

En physiologie de la reproduction, il est bien établi que les hormones glycoprotéiques hypophysaires LH (hormone lutéinisante) et FSH régulent de concert la production de stéroïdes sexuels (indispensables ... [more ▼]

En physiologie de la reproduction, il est bien établi que les hormones glycoprotéiques hypophysaires LH (hormone lutéinisante) et FSH régulent de concert la production de stéroïdes sexuels (indispensables à la virilisation et à la féminisation) ainsi que la gamétogenèse (spermatogenèse chez l’homme et folliculogenèse chez la femme). La sécrétion des gonadotrophines hypophysaires est à son tour stimulée par quelque 1.500 neurones hypothalamiques à GnRH (gonadotrophin releasing hormone) et inhibée par la GnIH (gonadotrophin nhibitory hormone), récemment identifiée (1). En amont de la GnRH, un ensemble de neuropeptides hypothalamiques tels que les kisspeptines, la neuroquinine B, la dinorphine, la leptine, etc., modulent sa sécrétion (Figure 1). Ces neuropeptides intègrent les différents signaux internes et de l’environnement, nécessaires à la puberté et, par la suite, à la reproduction. En corollaire de ces données physiologiques, les patients porteurs de mutations invalidant les gènes de la GnRH, des neuropeptides décrits et de leurs récepteurs souffrent d’un hypogonadisme hypogonadotrope. Ces patients présentent un déficit plus ou moins sévère de la sécrétion combinée de LH et de FSH (2, 3). Il a fallu attendre des observations rares, telles que des mutations de la sous-unité beta (β) de l’hormone lutéinisante, pour comprendre la contribution spécifique et isolée de cette hormone à la reproduction. Dans cet article, nous synthétisons les données historiques et récentes sur la déficience en hormone lutéinisante et ses conséquences sur la reproduction. [less ▲]

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See detailTekort aan luteïniserend hormoon : gevolgen voor de voortplanting
VALDES SOCIN, Hernan Gonzalo ULiege; NECHIFOR, Iulia ULiege; LIBIOULLE, Cécile ULiege et al

in Bloedvaten, Hart, Longen (2017), 22(9),

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See detailLa déficience en FSH : actualités cliniques et thérapeutiques
VALDES SOCIN, Hernan Gonzalo ULiege; Pintiaux, Axelle ULiege; Delbaere, Anne et al

in Urologic (2017), 13(3), 16-22

L'hormone lutéinisante (LH) et l'hormone folliculostimulante (FSH) - hormones glycoprotéiques hypophysaires - régulent de concert la production de stéroïdes sexuels et la reproduction. Les stéroïdes ... [more ▼]

L'hormone lutéinisante (LH) et l'hormone folliculostimulante (FSH) - hormones glycoprotéiques hypophysaires - régulent de concert la production de stéroïdes sexuels et la reproduction. Les stéroïdes sexuels sont indispensables à la virilisation et à la féminisation, et participent également à la gamétogenèse (spermatogenèse chez l'homme et folliculogenèse chez la femme). Cet article sur le déficit en FSH fait suite à un article précédent publié dans Urologic décrivant le déficit en LH et ses conséquences sur la reproduction. [less ▲]

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See detailLe syndrome de De Morsier : une cause congénitale méconnue d'hypopituitarisme
VALDES SOCIN, Hernan Gonzalo ULiege; VERLOES, Alain ULiege; Debray, François-Guillaume ULiege et al

in Annales d'Endocrinologie : 33ème congrès de la Société Française d'Endocrinologie (2016, October)

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See detailHypogonadisme hypogonadotrope anosmique associé à une nouvelle mutation hétérozygote c.937C>T, p.His314Tyr de l'isoforme IIIb du gène FGR1.
VALDES SOCIN, Hernan Gonzalo ULiege; CORMAN, Vinciane ULiege; LIBIOULLE, Cécile ULiege et al

in Annales d'Endocrinologie : 33ème congrès de la Société Française d'Endocrinologie (2016, October)

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See detailDouble genetic defect in a case of congenital hypogonadotropic hypogonadism
Potorac, Iulia ULiege; Pintiaux, Axelle ULiege; VALDES SOCIN, Hernan Gonzalo ULiege et al

in Abstract book - 17th World Congress of Gynecological Endocrinology (2016, March)

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See detailHypogonadisme hypogonadotrope normosmique familial : identification d'une nouvelle mutation c.1664-2A> T du gène FGFR1
VALDES SOCIN, Hernan Gonzalo ULiege; Pintiaux, Axelle ULiege; LIBIOULLE, Cécile ULiege et al

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

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See detailFemoral-facial syndrome: long term follow-up and associated array CGH abnormalities.
JACQUINET, Adeline ULiege; VALDES SOCIN, Hernan Gonzalo ULiege; LIBIOULLE, Cécile ULiege et al

Poster (2013, October 22)

The femoral-facial syndrome is usually sporadic and its aetiology remains unknown. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise ... [more ▼]

The femoral-facial syndrome is usually sporadic and its aetiology remains unknown. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise suggested autosomal dominant inheritance. We report the 20 years clinical follow-up of a girl with femoral-facial syndrome diagnosed at birth. Recently, array CGH investigation identified a 1400 kb duplication at 9q31.1, including the gene SMC2, and a 343 kb deletion at 12q24.33 including the genes CHFR, ZNF26, ZNF140, ZNF10 and ZNF268. Moreover, the patient presents a Mayer-Rokitansky-Kuster-Hauser syndrome diagnosed at puberty. Femoral-facial syndrome and Mullerian agenesis may reflect different defects in the primary axial mesodermal development, being the consequences of same environmental or/and genetic factors during blastogenesis. Among these genetic factors, we suggest the possible involvement of the two copy number variants reported here [less ▲]

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See detailFemoral Facial Syndrome: Long term follow-up and associated Müllerian aplasia.
JACQUINET, Adeline ULiege; VALDES SOCIN, Hernan Gonzalo ULiege; LIBIOULLE, Cécile ULiege et al

Conference (2013, September)

Daentl femoral-facial syndrome (FFS) includes bilateral femoral hypoplasia and particular facial features: long philtrum with thin upper lip, micrognathia with or without cleft palate, upward-slanted ... [more ▼]

Daentl femoral-facial syndrome (FFS) includes bilateral femoral hypoplasia and particular facial features: long philtrum with thin upper lip, micrognathia with or without cleft palate, upward-slanted palpebral fissures, and hypoplastic alae nasi with a broad tip. The syndrome is clinically heterogeneous, and other malformations have been associated. Psychomotor and cognitive developments are usually normal. Etiology of this syndrome remains currently unknown. Most of the cases are sporadic. Non-genetic factors as maternal diabetes mellitus have been associated. Reports of familial cases have otherwise suggested autosomal dominant inheritance. Our patient was the first child of unrelated parents. Very short femora were detected at fourth month of pregnancy. Birth height was 40 cm at term. FFS was diagnosed at birth, based on severe bilateral femoral hypoplasia and characteristic facial features with Pierre Robin sequence. Early psychomotor development was normal and walking alone was acquired at age two despite the absence of hip joints. At age seventeen, she was investigated for primary amenorrhea and was shown to have uterine aplasia, and thus Mayer-Rokitansky-Kuster-Hauser syndrome. Endocrine workup noted hyperandrogenism due to both ovarian and adrenal androgen overproduction. Recently, array CGH investigation identified a 1485 kb duplication at 9q31.1, including the gene SMC2, and a 853 kb deletion at 12q24.33 including the genes P2RX2, PEGAM5, GOLGA3, POLE1, CHFR, ZNF26, ZNF140, ZNF10 and ZNF268. Unfortunately, samples of parents were not available. Long term follow up of our patient underlined orthopedic problems as the major handicap in the FFS syndrome, cognitive development being normal. Unexpected discover was the association with mullerian agenesis. Both may reflect different defects in the primary axial mesodermal development, being the consequences of same environmental or/and genetic factors during blastogenesis. Among these genetic factors, we suggest the possible involvement of the two copy number variants reported here. Reports of other patients would be required to confirm this. [less ▲]

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See detailLes maladies complexes: l'importance de la genetique.
LIBIOULLE, Cécile ULiege; BOURS, Vincent ULiege

in Revue Médicale de Liège (2012), 67(5-6), 220-5

Complex diseases usually harbour hereditary factors linked with multiple susceptibility genes. The additive effects of genetic and environmental factors are responsible for the pathology. The impact of ... [more ▼]

Complex diseases usually harbour hereditary factors linked with multiple susceptibility genes. The additive effects of genetic and environmental factors are responsible for the pathology. The impact of heredity has been demonstrated through family studies, but also, and mostly, through the study of adopted people and twins. Recently, genome wide association studies (GWAS) allowed the identification of many susceptibility genes for most complex diseases. However, a large part of the heritability is still missing, probably because of insufficient exploration of rare genetic variants and/or epigenetic factors. The ultimate goal of these genetic studies is the definition of an individual risk leading to specific preventive measures (model "predict and prevent"), but this purpose remains very remote for the majority of complex diseases. [less ▲]

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See detailA multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
Sharma, Manu; Ioannidis, John P. A.; Aasly, Jan O. et al

in Journal of Medical Genetics (2012), 49(11), 721-6

BACKGROUND: Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense ... [more ▼]

BACKGROUND: Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive. METHODS AND RESULTS: We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any significant increased risk for p.Leu774Met and p.Gly51Ser in our cohort. CONCLUSIONS: Our study apart from identifying the p.Asp620Asn variant in familial cases also identified it in idiopathic Parkinson disease cases, and thus provides genetic evidence for a role of p.Asp620Asn in Parkinson disease in different populations worldwide. [less ▲]

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See detailMeta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Anderson, Carl A; Boucher, Gabrielle; Lees, Charlie W et al

in Nature Genetics (2011), 43(3), 246-52

Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association ... [more ▼]

Genome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P < 5 x 10(-8)), increasing the number of ulcerative colitis-associated loci to 47. After annotating associated regions using GRAIL, expression quantitative trait loci data and correlations with non-synonymous SNPs, we identified many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1. The total number of confirmed inflammatory bowel disease risk loci is now 99, including a minimum of 28 shared association signals between Crohn's disease and ulcerative colitis. [less ▲]

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See detail3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry.
BOEMER, François ULiege; Cornet, Yves ULiege; LIBIOULLE, Cécile ULiege et al

in Clinica Chimica Acta (2011), 412(15-16), 1476-9

BACKGROUND: Neonatal screening programs for sickle cell disease are common in North America and in some European countries. Isoelectric Focusing or High Performance Liquid Chromatography is the main ... [more ▼]

BACKGROUND: Neonatal screening programs for sickle cell disease are common in North America and in some European countries. Isoelectric Focusing or High Performance Liquid Chromatography is the main technique used for hemoglobin variant detection. METHODS: Since tandem mass spectrometry is being used for screening of inherited metabolic disorders and allows protein identification, we had developed an application to identify the most relevant hemoglobin mutations with this technology. RESULTS: This approach had been previously validated and has been routinely applied in our laboratory for the last three years. We report here our experience with this new method in the field, applied to our East-Belgian population. CONCLUSIONS: To conclude, mass spectrometry provides an efficient alternative approach for laboratories performing neonatal screening of hemoglobin disorders. [less ▲]

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See detailResequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.
Momozawa, Yukihide ULiege; Mni, Myriam ULiege; Nakamura, Kayo ULiege et al

in Nature Genetics (2011), 43(1), 43-7

Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease. However, common disease-associated SNPs explain at most approximately 20 ... [more ▼]

Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease. However, common disease-associated SNPs explain at most approximately 20% of the genetic variance for Crohn's disease. Several factors may account for this unexplained heritability, including rare risk variants not adequately tagged thus far in GWAS. That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer, plasma high-density lipoprotein cholesterol levels, blood pressure, type 1 diabetes, hypertriglyceridemia and, in the case of Crohn's disease, for NOD2 (refs. 14,15). Here we describe the use of high-throughput resequencing of DNA pools to search for rare coding variants influencing susceptibility to Crohn's disease in 63 GWAS-identified positional candidate genes. We identify low frequency coding variants conferring protection against inflammatory bowel disease in IL23R, but we conclude that rare coding variants in positional candidates do not make a large contribution to inherited predisposition to Crohn's disease. [less ▲]

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See detailGenome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Franke, Andre; McGovern, Dermot P B; Barrett, Jeffrey C et al

in Nature Genetics (2010), 42(12), 1118-25

We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in ... [more ▼]

We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with genome-wide significant evidence for association with Crohn's disease. [less ▲]

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