Genomes and Genes
Affiliation: CHRU de Lille
- Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutationPascal Pigny
Laboratoire de Biochimie et Hormonologie, Centre de Biologie et Pathologie, Centre Hospitalier Regional and Universitaire, Lille Cedex, France
J Clin Endocrinol Metab 93:1609-15. 2008..A hypothetic model, involving the loss of the maternal copy of a tumor suppressor gene mapped to 11p15 in the tumoral tissue, has been proposed to explain this mode of inheritance...
- Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?Pascal Pigny
Laboratoire de Biochimie Hormonologie, métabolisme nutrition, Oncologie, Centre de Biologie et Pathologie, CHRU de Lille, France
Eur J Endocrinol 160:227-31. 2009..This high frequency together with the financial support provided to reference laboratories of molecular genetics by the French government led to a nearly systematic screening in each patient with a pheochromocytoma...
- A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinomaP Pigny
Laboratoire de Biochimie Secteur commun de Biologie Moléculaire de l Hôpital Huriez, Centre Hospitalier Regional Universitaire, Lille, France
J Clin Endocrinol Metab 84:1700-4. 1999..Further studies are warranted to confirm whether this new mutation is causing MTC only or could be associated with Hirschsprung's disease...
- Serum anti-Mullerian hormone as a surrogate for antral follicle count for definition of the polycystic ovary syndromeP Pigny
Laboratoire de Biochimie et Hormonologie, Parc Eurasante, Centre Hospitalier Regional Universitaire, 59037 Lille Cedex, France
J Clin Endocrinol Metab 91:941-5. 2006..Unfortunately, its assessment does not offer sufficient reliability worldwide...
- Increased anti-Müllerian hormone and decreased FSH levels in follicular fluid obtained in women with polycystic ovaries at the time of follicle puncture for in vitro fertilizationVirginie Desforges-Bullet
Department of Endocrine Gynaecology and Reproductive Medicine, Hopital Jeanne de Flandre, CHRU and Université de Lille II, Lille, France
Fertil Steril 94:198-204. 2010..To confirm the increased levels of anti-Müllerian hormone (AMH) in preovulatory follicles from patients with polycystic ovary syndrome (PCOS) and to study the role of other hormones involved in folliculogenesis in this increased secretion...
- Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 geneMichel Crepin
Unité Fonctionnelle d Oncologie Laboratoire de Biochimie, Hormonologie, métabolisme nutrition, Oncologie Eurasanté CHRU Lille, Rue du Docteur Yersin, 59037 Lille Cedex, France
J Mol Endocrinol 36:369-76. 2006..In conclusion, genotypic diagnosis of MEN1 can benefit from DHPLC in terms of efficacy, rapidity and cost...
- Serum inhibin B during controlled ovarian hyperstimulation: an additional criterion for deciding whether to proceed with egg retrievalChristine Decanter
Department of Endocrine Gynecology and Reproductive Medicine, Hopital Jeanne de Flandre, Centre Hospitalier Regional Universitaire CHRU, Lille, France
Fertil Steril 91:2419-25. 2009..To determine the predictive value of the inhibin B increment during controlled ovarian hyperstimulation (COH) for differentiating between poor and normal responders and for deciding whether to continue or stop an IVF attempt...
- [Genetic diagnosis of phaeochromocytomas and paragangliomas]Catherine Cardot-Bauters
CHRU de Lille, Hopital Claude Huriez, Service d endocrinologie, 59037 Lille Cedex, France Electronic address
Presse Med 43:460-7. 2014..Genetic testing is prescribed by a specialist, as part of a cancer genetics specialist consultation in endocrine tumors. The psychological support is essential throughout the family survey. ..
- Elevated serum level of anti-mullerian hormone in patients with polycystic ovary syndrome: relationship to the ovarian follicle excess and to the follicular arrestPascal Pigny
Laboratory of Endocrinology, Clinique Marc Linquette, Hopital Jeanne de Flandre, Lille, France
J Clin Endocrinol Metab 88:5957-62. 2003..We hypothesize that an increased AMH tone within the cohort could be involved in the follicular arrest of PCOS, by interacting negatively with FSH at the time of selection...
- Oligoanovulation with polycystic ovaries but not overt hyperandrogenismDidier Dewailly
Department of Endocrine Gynecology and Reproductive Medicine, Hopital Jeanne de Flandre, Centre Hospitalier Regional Universitaire, 59037 Lille, France
J Clin Endocrinol Metab 91:3922-7. 2006..However, the latter phenotype is controversial, and it is not known to what extent it shares similarities with the others...
- VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotypeLucie Coppin
1 Laboratoire de biochimie hormonologie, métabolisme nutrition, Oncologie, Centre de Biologie Pathologie, CHRU de Lille, Lille Cedex, France 2 INSERM, U837, Team 5, Lille Cedex, France
Eur J Hum Genet 22:1149-52. 2014..In conclusion, clinical NGS in an hospital molecular oncogenetics laboratory is an efficient tool to identify VHL mosaic mutation. Its use may improve patient monitoring and genetic counseling. ..
- Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcomeSam Van Slycke
Univ Lille Nord de France, CHULille, Lille, France
Surgery 146:986-92. 2009..Operative excision of abdominal extra-adrenal paragangliomas (EAPs) does not preclude the late development of local-regional recurrence. We describe the incidence, characteristics, and outcome of this rarely reported feature...
- Reconciling the definitions of polycystic ovary syndrome: the ovarian follicle number and serum anti-Müllerian hormone concentrations aggregate with the markers of hyperandrogenismDidier Dewailly
Department of Endocrine Gynaecology and Reproductive Medicine, Hopital Jeanne de Flandre, C H R U, 59037 Lille, France
J Clin Endocrinol Metab 95:4399-405. 2010..We hypothesized that excessive follicle number (FN) assessed by ovarian ultrasonography and/or serum anti-Müllerian hormone (AMH) concentrations may be used as surrogates for the classical markers of HA...
- Anti-Müllerian hormone follow-up in young women treated by chemotherapy for lymphoma: preliminary resultsChristine Decanter
Department of Endocrine Gynaecology and Reproductive Medicine, Hopital Jeanne de Flandre, CHRU, 59037 Lille, France
Reprod Biomed Online 20:280-5. 2010..In conclusion, longitudinal analysis of AMH during chemotherapy highlights differences between protocols that could contribute to an understanding of ovarian toxicity and, ultimately, be useful in fertility preservation counselling...
- An analysis of the biochemical diagnosis of 66 pheochromocytomasMichèle D'herbomez
Department of Nuclear Medicine, CHRU, 59037 Lille, France
Eur J Endocrinol 156:569-75. 2007..The aims of this study were to determine the performance of each variable, to define the optimal diagnostic thresholds and to determine the relative value of assaying chromogranin A (CgA)...
- The excess in 2-5 mm follicles seen at ovarian ultrasonography is tightly associated to the follicular arrest of the polycystic ovary syndromeDidier Dewailly
Department of Endocrine Gynaecology and Reproductive Medicine, Hopital Jeanne de Flandre, C H R U, 59037 Lille, France
Hum Reprod 22:1562-6. 2007....
- Contribution of genetic analysis in screening for MEN1 among patients with sporadic disease and one or more typical manifestationM F Odou
Laboratoire de Biochimie Biologie Moléculaire, Pôle de Pathologie Biologie, Eurasanté, CHRU de Lille, France
Ann Endocrinol (Paris) 67:581-7. 2006..In a sporadic context with at least two established manifestations of MEN1, the overall probability of identifying a mutation was 26%, warranting MEN1 genotypic analysis...
- Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophyM C Vantyghem
Service d Endocrinologie Métabolisme Clinique Linquette, Centre Hospitalier Regional et Universitaire de Lille, 6 Rue du Pr Laguesse, Lille, France
J Clin Endocrinol Metab 93:2223-9. 2008....
- Anorexia nervosa, osteoporosis and circulating leptin: the missing linkI Legroux-Gerot
Department of Rheumatology, University of Lille II, 59037, Lille Cedex, France
Osteoporos Int 21:1715-22. 2010..Results: Spine BMD and Z-score values were found to be significantly lower in the low tertile compared with the highest tertile. Duration of amenorrhea and leptin level accounted for 27% of the variance in lumbar spine BMD...
- Genetics of pheochromocytoma and paraganglioma: new developmentsP Pigny
Laboratoire de Biochimie Hormonologie, métabolisme nutrition, Oncologie, Centre de Biologie Pathologie, CHRU de Lille, Lille Cedex, France
Ann Endocrinol (Paris) 71:76-82. 2010..Finally, practical issues are considered; for us, it would be preferable to apply easy-to-identify clinical predictors to preselect patients eligible for molecular testing in order to improve the efficiency of these high-cost tests...
- Kinetics of diabetes-associated autoantibodies after sequential intraportal islet allograft associated with kidney transplantation in type 1 diabetesM C Vantyghem
Department of Endocrinology and Metabolism, INSERM ERIT 0106, Lille University Hospital, 6 Rue du Pr Laguesse, 59037 Lille Cedex, France
Diabetes Metab 29:595-601. 2003....
- [Multiple endocrine neoplasias. Recent advances in clinical and genetic diagnosis]C Bauters
Clinique Endocrinologique Marc Linquette, CHRU de Lille, 6, rue du Professeur Laguesse, 59037 Lille, France
Rev Med Interne 24:721-9. 2003....
- Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalitiesM C Vantyghem
Department of Endocrinology and Metabolism, Lille University Hospital, 6 rue du Prof Laguesse, 59037 Lille Cedex, France
J Clin Endocrinol Metab 89:5337-46. 2004..Cardiac hypertrophy and advanced atherosclerosis were frequent. FPLD patients should receive careful neuromuscular and cardiac examination whatever the underlying LMNA mutation...
- Factors influencing bone loss in rheumatoid arthritis: a longitudinal studyB Cortet
Department of Rheumatology, CHRU Lille, Hopital R Salengro, France
Clin Exp Rheumatol 18:683-90. 2000..To assess the occurrence of bone loss in rheumatoid arthritis (RA) and to determine the factors influencing bone loss (particularly the usefulness of bone turnover markers) over an 18-month period...
- Thyroid carcinomas involving follicular and parafollicular C cells: seventeen cases with characterization of RET oncogenic activationM C Vantyghem
Department of Endocrinology and Metabolism, University Hospital, Lille, France
Thyroid 14:842-7. 2004..This suggests the possible involvement of another gene or uncommon abnormality of RET gene...
- [Usefulness and indications of AMH assay in women]Adrienne Fouquet
Pôle femme mère nouveau né, Clinique d obstétrique, Hopital Jeanne de Flandre, CHRU, Université Nord de France, Lille, France
Ann Biol Clin (Paris) 72:681-8. 2014..Furthermore, we have to know that the AMH assay doesn't belong to the official definition of PCOS or premature ovarian failure for the moment, although it is useful in daily practice. ..
- Toward a better follow-up of ovarian recovery in young women after chemotherapy with a hypersensitive antimüllerian hormone assayChristine Decanter
Service de gynécologie endocrinienne et médecine de la reproduction, Hopital Jeanne de Flandre, Centre Hospitalier Regional Universitaire, Lille, France
Fertil Steril 102:483-7. 2014..To evaluate the utility of a hypersensitive assay for measuring low antimüllerian hormone (AMH) levels in young cancer patients during the ovarian recovery phase of their chemotherapy...
- Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma?C Cardot-Bauters
Service d Endocrinologie et Maladies Métaboliques, Clinique Marc Linquette, Lille, France
Clin Endocrinol (Oxf) 69:506-10. 2008..The aim of our study was to assess the influence of this variant on the age of onset, clinical, biological and pathological features of sMTC...
- Falsely elevated serum antimüllerian hormone level in a context of heterophilic interferenceHélène Cappy
Department of Endocrine Gynecology and Reproductive Medicine, Hopital Jeanne de Flandre, Centre Hospitalier Regional Universitaire, and Faculty of Medicine of Lille, University of Lille II, Lille, France
Fertil Steril 99:1729-32. 2013..To describe a case of falsely elevated serum antimüllerian hormone (AMH) level in an infertile 37-year-old woman with rheumatoid arthritis...
- MUC1 expression in papillary thyroid carcinoma is associated with BRAF mutation and lymph node metastasis; the latter is the most important risk factor of relapseFlorence Renaud
1 Institute of Pathology, Lille University Hospital, Lille, France
Thyroid 24:1375-84. 2014..Here, we correlated MUC1 expression in PTC with clinical and pathological features and with the presence of the BRAF(V600E) mutation...
- The human mucin MUC4 is transcriptionally regulated by caudal-related homeobox, hepatocyte nuclear factors, forkhead box A, and GATA endodermal transcription factors in epithelial cancer cellsNicolas Jonckheere
INSERM, U560, Place de Verdun, Lille, F 59045, France
J Biol Chem 282:22638-50. 2007..Altogether, these results demonstrate that MUC4 is a target gene of endodermal TFs and thus point out an important role for these TFs in regulating MUC4 expression during epithelial differentiation during development, cancer, and repair...
- Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysisMichel Crepin
Secteur Oncologie Moléculaire Huriez USN, Laboratoire de Biochimie et Biologie Moleculaire, CHRU, Lille, France
Electrophoresis 24:26-33. 2003..Together, these methods provide an efficient screen for MEN1 mutations...
- Aldosterone, mortality, and acute ischaemic events in coronary artery disease patients outside the setting of acute myocardial infarction or heart failureFabrice Ivanes
Department of Cardiology, University Hospital, Lille, France
Eur Heart J 33:191-202. 2012..The present study was designed to evaluate the relationship between the level of aldosterone and the risk of death and acute ischaemic events in CAD patients with a preserved left ventricular (LV) function and no acute MI...
- Seminal plasma levels of anti-Müllerian hormone and inhibin B are not predictive of testicular sperm retrieval in nonobstructive azoospermia: a study of 139 menValerie Mitchell
Laboratoire de Spermiologie, hôpital A Calmette, Groupe de recherche EA 4308 Spermatogenesis and Male Gamete Quality, CHRU, Lille Cedex, France
Fertil Steril 94:2147-50. 2010..To evaluate the seminal levels of the Sertoli anti-Müllerian hormone (AMH) and inhibin B in the testicular sperm extraction (TESE) in nonobstructive azoospermia...
- Primary graft function, metabolic control, and graft survival after islet transplantationMarie Christine Vantyghem
University Lille Nord de France, Lille, France
Diabetes Care 32:1473-8. 2009..CONCLUSIONS Optimal PGF was associated with prolonged graft survival and better metabolic control after islet transplantation. This early outcome may represent a valuable end point in future clinical trials...
- Sex hormone-binding globulin, estradiol, and bone turnover markers in male osteoporosisC Lormeau
Department of Rheumatology, Lille University Hospital, 59037 Lille Cedex, France
Bone 34:933-9. 2004..Finally, our findings are in agreement with previous studies which suggest that serum SHBG is a new biological marker of fracture risk in men...
- [Paragangliomas: clinical and secretory profile. Result of 39 cases]A Lamblin
Service de Chirurgie Generale et Endocrinienne, Hopital Claude Huriez, 1, rue Michel Polonowski, 59037 Lille Cedex, France
Ann Chir 130:157-61. 2005..To define a clinical and secretory profile of paragangliomas extra-adrenal chromaffin tumors...
- Metabolic syndrome and collateral vessel formation in patients with documented occluded coronary arteries: association with hyperglycaemia, insulin-resistance, adiponectin and plasminogen activator inhibitor-1Frederic Mouquet
Departments of Cardiology, Centre Hospitalier Regional Universitaire, Lille, France
Eur Heart J 30:840-9. 2009..We hypothesized that such patients, in the event of a coronary occlusion, might exhibit a less developed collateral circulation...
- Characterization of the human mucin gene MUC5AC: a consensus cysteine-rich domain for 11p15 mucin genes?V Guyonnet Duperat
Unité INSERM N 377, Lille, France
Biochem J 305:211-9. 1995..The functional significance for secreted mucins of these cysteine-rich subdomains and the modular organization of mucin peptides are discussed...
- Obesity and serum luteinizing hormone level have an independent and opposite effect on the serum inhibin B level in patients with polycystic ovary syndromeChristine Cortet-Rudelli
Department of Diabetology and Endocrinology, Clinique Marc Linquette, C H R U, 59037 Lille, France
Fertil Steril 77:281-7. 2002....
- Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC geneFrancesca Schiavi
Department of Endocrinology, University of Padova, Padova, Italy
JAMA 294:2057-63. 2005..In contrast with those with germline mutations of the SDHB and SDHD genes, clinical and genetic data on patients with mutations of SDHC are scarce...
- Changes in serum anti-mullerian hormone level during low-dose recombinant follicular-stimulating hormone therapy for anovulation in polycystic ovary syndromeSophie Catteau-Jonard
Department of Endocrine Gynaecology and Reproductive Medicine, Hopital Jeanne de Flandre, avenue Eugene Avinee, Centre Hospitalier Regional Universitaire de Lille, 59037 Lille, France
J Clin Endocrinol Metab 92:4138-43. 2007....
- A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumorsI Tien Yeh
Cancer Therapy and Research Center, University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX 78229 3900, USA
Hum Genet 124:279-85. 2008..This may imply the existence of a tissue-specific gene dosage requirement for its tumorigenesis...
- [von Hippel-Lindau syndrome: molecular diagnosis of two Lebanese families and analysis of the genotype-phenotype correlation]Myrna Medlej-Hashim
Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beyrouth, Liban
J Med Liban 52:51-4. 2004....
- The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressorSusanne Schlisio
Department of Medical Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
Genes Dev 22:884-93. 2008....
- Viral protein VP4 is a target of human antibodies enhancing coxsackievirus B4- and B3-induced synthesis of alpha interferonWassim Chehadeh
Service de Virologie UPRES EA3610, Faculte de Medecine, Universite Lille 2, Bâtiment Paul Boulanger, CHRU Lille, 59037 Lille, France
J Virol 79:13882-91. 2005..These results show that VP4 is the target of antibodies involved in the plasma-dependent enhancement of CVB4E2- and CVB3-induced IFN-alpha synthesis by PBMC...