Nelly Pitteloud

Publications | Mémoires et thèses

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123 publications

Sous presse | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2002 | 2001 | 2000 | 1998 |
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development.
Kolesinska Z., Acierno J., Ahmed S.F., Xu C., Kapczuk K., Skorczyk-Werner A., Mikos H., Rojek A., Massouras A., Krawczyński M. et al. Endocrine connections. Peer-reviewed.
 
Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.
Dwyer A.A., Chavan N.R., Lewkowitz-Shpuntoff H., Plummer L., Hayes F.J., Seminara S.B., Crowley W.F., Pitteloud N., Balasubramanian R., 2019/08/01. The Journal of clinical endocrinology and metabolism, 104 (8) pp. 3403-3414. Peer-reviewed.
 
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
Malone S.A., Papadakis G.E., Messina A., Mimouni NEH, Trova S., Imbernon M., Allet C., Cimino I., Acierno J., Cassatella D. et al., 2019/07/10. eLife, 8. Peer-reviewed.
 
Clomiphene citrate effect on testosterone level and semen parameters in 18 infertile men with low testosterone level and normal/low gonadotropines level.
Surbone A., Vaucher L., Primi M.P., Leyvraz C., Pitteloud N., Ballabeni P., Mathevet P., Vulliemoz N., 2019/07. European journal of obstetrics, gynecology, and reproductive biology, 238 pp. 104-109. Peer-reviewed.
 
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
Young J., Xu C., Papadakis G.E., Acierno J.S., Maione L., Hietamäki J., Raivio T., Pitteloud N., 2019/04/01. Endocrine reviews, 40 (2) pp. 669-710. Peer-reviewed.
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
Antoniou M.C., Bouthors T., Xu C., Phan-Hug F., Elowe-Gruau E., Stoppa-Vaucher S., Sloot A.V., Acierno J., Cassatella D., Richard C. et al., 2019/03. Annals of pediatric endocrinology & metabolism, 24 (1) pp. 49-54. Peer-reviewed.
 
Thyrotropin-secreting pituitary adenomas: a systematic review and meta-analysis of postoperative outcomes and management.
Cossu G., Daniel R.T., Pierzchala K., Berhouma M., Pitteloud N., Lamine F., Colao A., Messerer M., 2019/02. Pituitary, 22 (1) pp. 79-88. Peer-reviewed.
The Reduction of Visceral Adipose Tissue after Roux-en-Y Gastric Bypass Is more Pronounced in Patients with Impaired Glucose Metabolism.
Favre L., Marino L., Roth A., Acierno J., Hans D., Demartines N., Pitteloud N., Suter M., Collet T.H., 2018/12. Obesity surgery, 28 (12) pp. 4006-4013. Peer-reviewed.
 
Accuracy, satisfaction and usability of a flash glucose monitoring system among children and adolescents with type 1 diabetes attending a summer camp.
Hansen E.A., Klee P., Dirlewanger M., Bouthors T., Elowe-Gruau E., Stoppa-Vaucher S., Phan-Hug F., Antoniou M.C., Pasquier J., Dwyer A.A. et al., 2018/11. Pediatric diabetes, 19 (7) pp. 1276-1284. Peer-reviewed.
 
β-Klotho deficiency shifts the gut-liver bile acid axis and induces hepatic alterations in mice.
Somm E., Henry H., Bruce S.J., Bonnet N., Montandon S.A., Niederländer N.J., Messina A., Aeby S., Rosikiewicz M., Fajas L. et al., 2018/11/01. American journal of physiology. Endocrinology and metabolism, 315 (5) pp. E833-E847. Peer-reviewed.
 
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Xu C., Cassatella D., van der Sloot A.M., Quinton R., Hauschild M., De Geyter C., Flück C., Feller K., Bartholdi D., Nemeth A. et al., 2018/08. Genetics in medicine, 20 (8) pp. 872-881. Peer-reviewed.
 
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Cassatella D., Howard S.R., Acierno J.S., Xu C., Papadakis G.E., Santoni F.A., Dwyer A.A., Santini S., Sykiotis G.P., Chambion C. et al., 2018/04. European journal of endocrinology, 178 (4) pp. 377-388. Peer-reviewed.
 
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Bouilly J., Messina A., Papadakis G., Cassatella D., Xu C., Acierno J.S., Tata B., Sykiotis G., Santini S., Sidis Y. et al., 2018/01/15. Human molecular genetics, 27 (2) pp. 359-372. Peer-reviewed.
 
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska J., Känsäkoski J., Skibsbye L., Vaaralahti K., Liu X., Lodge E.J., Tang C., Yuan L., Fagerholm R., Kanters J.K. et al., 2017/11/03. Nature communications, 8 (1) p. 1289. Peer-reviewed.
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C., Messina A., Somm E., Miraoui H., Kinnunen T., Acierno J., Niederländer N.J., Bouilly J., Dwyer A.A., Sidis Y. et al., 2017/10. EMBO molecular medicine, 9 (10) pp. 1379-1397. Peer-reviewed.
Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism.
Dzemaili S., Tiemensma J., Quinton R., Pitteloud N., Morin D., Dwyer A.A., 2017/08. Endocrine connections, 6 (6) pp. 404-412. Peer-reviewed.
 
Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.
Xu C., Lang-Muritano M., Phan-Hug F., Dwyer A.A., Sykiotis G.P., Cassatella D., Acierno J., Mohammadi M., Pitteloud N., 2017/08. Clinical genetics, 92 (2) pp. 213-216. Peer-reviewed.
 
The induction of ovulation by pulsatile administration of GnRH: an appropriate method in hypothalamic amenorrhea.
Christou F., Pitteloud N., Gomez F., 2017/08. Gynecological endocrinology, 33 (8) pp. 598-601. Peer-reviewed.
Glycaemic, blood pressure and lipid goal attainment and chronic kidney disease stage of type 2 diabetic patients treated in primary care practices.
Corcillo A., Pivin E., Lalubin F., Pitteloud N., Burnier M., Zanchi A., 2017/07/11. Swiss medical weekly, 147 pp. w14459. Peer-reviewed.
 
Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice.
Marcos S., Monnier C., Rovira X., Fouveaut C., Pitteloud N., Ango F., Dodé C., Hardelin J.P., 2017/06/01. Human molecular genetics, 26 (11) pp. 2006-2017. Peer-reviewed.
β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue.
Somm E., Henry H., Bruce S.J., Aeby S., Rosikiewicz M., Sykiotis G.P., Asrih M., Jornayvaz F.R., Denechaud P.D., Albrecht U. et al., 2017/04/20. JCI insight, 2 (8). Peer-reviewed.
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
COST Action BM1105, Badiu C., Bonomi M., Borshchevsky I., Cools M., Craen M., Ghervan C., Hauschild M., Hershkovitz E., Hrabovszky E. et al., 2017/03/20. Orphanet journal of rare diseases, 12 (1) p. 57. Peer-reviewed.
 
Adherence to treatment in men with hypogonadotrophic hypogonadism.
Dwyer A.A., Tiemensma J., Quinton R., Pitteloud N., Morin D., 2017/03. Clinical endocrinology, 86 (3) pp. 377-383. Peer-reviewed.
REV-ERBα regulates Fgf21 expression in the liver via hepatic nuclear factor 6.
Chavan R., Preitner N., Okabe T., Strittmatter L.M., Xu C., Ripperger J.A., Pitteloud N., Albrecht U., 2017/01/15. Biology open, 6 (1) pp. 1-7. Peer-reviewed.
 
Patients avec variation du développement sexuel : un exemple de prise en charge interdisciplinaire [Patients with variations of sex development : an example of interdisciplinary care]
Phan-Hug F., Kraus C., Paoloni-Giacobino A., Fellmann F., Typaldou S.A., Ansermet F., Alamo L., Eggert N., Pelet O., Vial Y. et al., 2016/11/09. Revue medicale suisse, 12 (538) pp. 1923-1929. Peer-reviewed.
 
Surgical treatment of acromegaly according to the 2010 remission criteria: systematic review and meta-analysis.
Starnoni D., Daniel R.T., Marino L., Pitteloud N., Levivier M., Messerer M., 2016/11. Acta neurochirurgica, 158 (11) pp. 2109-2121. Peer-reviewed.
 
MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism.
Dwyer A.A., Raivio T., Pitteloud N., 2016/06. European journal of endocrinology, 174 (6) pp. R267-74. Peer-reviewed.
Chronic kidney disease in type 2 diabetic patients followed-up by primary care physicians in Switzerland: prevalence and prescription of antidiabetic drugs.
Lamine F., Lalubin F., Pitteloud N., Burnier M., Zanchi A., 2016. Swiss Medical Weekly, 146 pp. w14282. Peer-reviewed.
 
Gonadotropin-releasing hormone receptor mutations in ageing men.
Tommiska J., Känsäkoski J., Pitteloud N., Wu F., Raivio T., 2016/01. Clinical endocrinology, 84 (1) pp. 150-151. Peer-reviewed.
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Villanueva C., Jacobson-Dickman E., Xu C., Manouvrier S., Dwyer A.A., Sykiotis G.P., Beenken A., Liu Y., Tommiska J., Hu Y. et al., 2015/11. Genetics In Medicine : Official Journal of the American College of Medical Genetics, 17 (8) pp. 651-659. Peer-reviewed.
 
Erreurs innées du métabolisme: transition enfant-adulte [Inborn errors of metabolism: transition from childhood to adulthood].
Tran C., Barbey F., Pitteloud N., Philippe J., Kern I., Bonafé L., 2015. Revue Médicale Suisse, 11 (462) pp. 445-449. Peer-reviewed.
 
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment.
Boehm U., Bouloux P.M., Dattani M.T., de Roux N., Dodé C., Dunkel L., Dwyer A.A., Giacobini P., Hardelin J.P., Juul A. et al., 2015. Nature Reviews. Endocrinology, 11 (9) pp. 547-564. Peer-reviewed.
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Correa F.A., Trarbach E.B., Tusset C., Latronico A.C., Montenegro L.R., Carvalho L.R., Franca M.M., Otto A.P., Costalonga E.F., Brito V.N. et al., 2015. Endocrine Connections, 4 (2) pp. 100-107. Peer-reviewed.
 
Gonadotrophin replacement for induction of fertility in hypogonadal men.
Dwyer A.A., Raivio T., Pitteloud N., 2015. Best Practice and Research. Clinical Endocrinology and Metabolism, 29 (1) pp. 91-103. Peer-reviewed.
Mid-gut ACTH-secreting neuroendocrine tumor unmasked with (18)F-dihydroxyphenylalanine-positron emission tomography.
Ducry J., Gomez F., Prior J.O., Boubaker A., Matter M., Monti M., Pu Y., Pitteloud N., Portmann L., 2015. Endocrinology, Diabetes and Metabolism Case Reports, 2015 p. 140104. Peer-reviewed.
 
Natural history of growth hormone deficiency in a pediatric cohort.
Deillon E., Hauschild M., Faouzi M., Stoppa-Vaucher S., Elowe-Gruau E., Dwyer A., Theintz G.E., Dubuis J.M., Mullis P.E., Pitteloud N. et al., 2015. Hormone Research In Pædiatrics, 83 (4) pp. 252-261. Peer-reviewed.
Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: a mixed methods study.
Dwyer A.A., Quinton R., Pitteloud N., Morin D., 2015. Sexual Medicine, 3 (1) pp. 32-41. Peer-reviewed.
 
TRANSITION IN ENDOCRINOLOGY: Hypogonadism in adolescence.
Dwyer A.A., Phan-Hug F., Hauschild M., Elowe-Gruau E., Pitteloud N., 2015. European Journal of Endocrinology, 173 (1) pp. R15-R24. Peer-reviewed.
Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support.
Dwyer A.A., Quinton R., Morin D., Pitteloud N., 2014/06. Orphanet Journal of Rare Diseases, 9 (83) p. 83. Peer-reviewed.
 
Absence of central circadian pacemaker abnormalities in humans with loss of function mutation in prokineticin 2.
Balasubramanian R., Cohen D.A., Klerman E.B., Pignatelli D., Hall J.E., Dwyer A.A., Czeisler C.A., Pitteloud N., Crowley W.F., 2014. Journal of Clinical Endocrinology and Metabolism, 99 (3) pp. E561-E566. Peer-reviewed.
 
Adherence to treatment for chronic hypogonadism: the role of illness perceptions and depressive symptoms.
Dwyer A., Tiemensma J., Quinton R., Morin D., Pitteloud N., 2014. dans 16th European Congress of Endocrinology, Endocrine Abstracts. Peer-reviewed.
 
Comment tes médecins de famille prennent-ils en charge l'hypothyroïdie infraclinique [How do Swiss family physicians treat subclinical hypothyroidism?].
Virgini V., Baumgartner C., Bischoff T., Haller D.M., Frey P., Rosemann T., Collet T.H., Sykiotis G., Pitteloud N., Rodondi N., 2014. Revue Médicale Suisse, 10 (420) pp. 526-529.
 
Hormonal control of spermatogenesis in men: therapeutic aspects in hypogonadotropic hypogonadism.
Pitteloud N., Dwyer A., 2014. Annales d'endocrinologie, 75 (2) pp. 98-100. Peer-reviewed.
 
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
Känsäkoski J., Fagerholm R., Laitinen E.M., Vaaralahti K., Hackman P., Pitteloud N., Raivio T., Tommiska J., 2014. Pediatric Research, 75 (5) pp. 641-644. Peer-reviewed.
 
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
Sidhoum V.F., Chan Y.M., Lippincott M.F., Balasubramanian R., Quinton R., Plummer L., Dwyer A., Pitteloud N., Hayes F.J., Hall J.E. et al., 2014. Journal of Clinical Endocrinology and Metabolism, 99 (3) pp. 861-870. Peer-reviewed.
 
Suivi et prise en charge des enfants nés petits pour l'âge gestationnel: aspects endo- crinologiques et métaboliques [Follow-up and management of children born small for gestational age a endocrine and metabolic aspects].
Elowe-Gruau E., Phan-Hug F., Stoppa-Vaucher S., Pitteloud N., Hauschild M., 2014. Revue Médicale Suisse, 10 (418) pp. 424, 426-424, 429.
 
Hypothyroïdie infraclinique
Blum Manuel R, Collet Tinh-Hai, Krebs Danielle, Stettler Christoph, Christ Emanuel, Virgini Vanessa, Sykiotis Gerasimos, Frey Peter, Reichenbach Stephan, Boulat Olivier et al., 2013/09/23. Forum Medical Suisse, 13 (39) pp. 772-775.
 
Subklinische Hypothyreose: Risiken, aktuelle Empfehlungen und randomisierte Studie in der Swchweiz
Blum Manuel R., Collet Tinh-Hai, Krebs Danielle, Stettler Christoph, Christ Emanuel, Virgini Vanessa, Sykiotis Gerasimos, Frey Peter, Reichenbach Stephan, Boulat Olivier et al., 2013/09/23. Forum Medical Suisse, 13 (39) pp. 772-775.
Abrupt decrease in serum testosterone levels after an oral glucose load in men: implications for screening for hypogonadism.
Caronia L.M., Dwyer A.A., Hayden D., Amati F., Pitteloud N., Hayes F.J., 2013. Clinical Endocrinology, 78 (2) pp. 291-296.
 
Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).
Koika V., Varnavas P., Valavani H., Sidis Y., Plummer L., Dwyer A., Quinton R., Kanaka-Gantenbein C., Pitteloud N., Sertedaki A. et al., 2013. Gene, 516 (1) pp. 146-151.
 
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism.
Miraoui H., Dwyer A.A., Sykiotis G.P., Plummer L., Chung W., Feng B., Beenken A., Clarke J., Pers T.H., Dworzynski P. et al., 2013. American Journal of Human Genetics, 92 (5) pp. 725-743.
 
Prioritizing genetic testing in patients with kallmann syndrome using clinical phenotypes.
Costa-Barbosa F.A., Balasubramanian R., Keefe K.W., Shaw N.D., Al-Tassan N., Plummer L., Dwyer A.A., Buck C.L., Choi J.H., Seminara S.B. et al., 2013. Journal of Clinical Endocrinology and Metabolism, 98 (5) pp. E943-E953.
 
Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.
Abel B.S., Shaw N.D., Brown J.M., Adams J.M., Alati T., Martin K.A., Pitteloud N., Seminara S.B., Plummer L., Pignatelli D. et al., 2013. Journal of Clinical Endocrinology and Metabolism, 98 (2) pp. E206-E216.
Testosterone Restoration by Enclomiphene Citrate in Men with Secondary Hypogonadism: a pharmacodynamic and Pharmacokinetic study.
Wiehle R., Cunningham G.R., Pitteloud N., Wike J., Hsu K., Fontenot G.K., Rosner M., Dwyer A., Podolski J., 2013. Bju International, 112 (8) pp. 1188-1200. Peer-reviewed.
 
Trial of recombinant follicle-stimulating hormone pretreatment for gnrh-induced fertility in patients with congenital hypogonadotropic hypogonadism.
Dwyer A.A., Sykiotis G.P., Hayes F.J., Boepple P.A., Lee H., Loughlin K.R., Dym M., Sluss P.M., Crowley W.F., Pitteloud N., 2013. Journal of Clinical Endocrinology and Metabolism, 98 (11) pp. E1790-E1795.
 
Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia.
McCabe M.J., Gaston-Massuet C., Gregory L.C., Alatzoglou K.S., Tziaferi V., Sbai O., Rondard P., Masumoto K.H., Nagano M., Shigeyoshi Y. et al., 2013. Journal of Clinical Endocrinology and Metabolism, 98 (3) pp. E547-57. Peer-reviewed.
 
An ancient founder mutation in PROKR2 impairs human reproduction.
Avbelj Stefanija M., Jeanpierre M., Sykiotis G.P., Young J., Quinton R., Abreu A.P., Plummer L., Au M.G., Balasubramanian R., Dwyer A.A. et al., 2012. Human Molecular Genetics, 21 (19) pp. 4314-4324.
 
Basal insulin and cardiovascular and other outcomes in dysglycemia.
ORIGIN Trial Investigators, Gerstein H.C., Gerstein H.C., Bosch J., Dagenais G.R., Díaz R., Jung H., Maggioni A.P., Pogue J., Probstfield J. et al., 2012. New England Journal of Medicine, 367 (4) pp. 319-328.
 
Concomitant blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and congenital adrenal hyperplasia (CAH) in a young girl
Decarli Diserens M, Addor MC, Stoppa S, Phan-Hug F, Pitteloud N, Hauschild M, 2012. dans Congrès de la Société Suisse de Pédiatrie, Lucerne 2012.
 
Genetic overlap in kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Raivio T., Avbelj M., McCabe M.J., Romero C.J., Dwyer A.A., Tommiska J., Sykiotis G.P., Gregory L.C., Diaczok D., Tziaferi V. et al., 2012. Journal of Clinical Endocrinology and Metabolism, 97 (4) pp. E694-E699.
 
Klotho coreceptors inhibit signaling by paracrine fibroblast growth factor 8 subfamily ligands.
Goetz R., Ohnishi M., Ding X., Kurosu H., Wang L., Akiyoshi J., Ma J., Gai W., Sidis Y., Pitteloud N. et al., 2012. Molecular and Cellular Biology, 32 (10) pp. 1944-1954.
 
Managing delayed or altered puberty in boys.
Pitteloud N., 2012. Bmj (clinical Research Ed.), 345 pp. e7913.
 
n-3 fatty acids and cardiovascular outcomes in patients with dysglycemia.
ORIGIN Trial Investigators, Bosch J., Bosch J., Gerstein H.C., Dagenais G.R., Díaz R., Dyal L., Jung H., Maggiono A.P., Probstfield J. et al., 2012. New England Journal of Medicine, 367 (4) pp. 309-318.
 
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.
Lewkowitz-Shpuntoff H.M., Hughes V.A., Plummer L., Au M.G., Doty R.L., Seminara S.B., Chan Y.M., Pitteloud N., Crowley W.F., Balasubramanian R., 2012. Journal of Clinical Endocrinology and Metabolism, 97 (1) pp. E136-E144.
 
Prise en charge des jeunes patients avec endocrinopathies pediatriques chroniques: les défis d'une transition souvent difficile [Caring for patients with pediatric endocrinopathies and diabetes into adulthood: challenges of an often difficult transition].
Phan-Hug F., Hauschild M., Dwyer A., Pitteloud N., 2012. Revue Médicale Suisse, 8 (362) pp. 2170-2, 2174.
 
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
Gianetti E., Hall J.E., Au M.G., Kaiser U.B., Quinton R., Stewart J.A., Metzger D.L., Pitteloud N., Mericq V., Merino P.M. et al., 2012. Journal of Clinical Endocrinology and Metabolism, 97 (9) pp. E1798-E1807. Peer-reviewed.
 
An interdisciplinary education program training health professionals to encourage physical activity in patients with type 2 diabetes
Giet Olivier, Sofra Daniela, Cancelli Timmy, Allet Lara, Marques-Vidal Pedro Manuel, Ruiz Juan, Pitteloud Nelly, Delgado-Velez Humberto, Castellsague Perolini Montserrat, Nègre Chantal et al., 2011/12. p. 17 dans Annual Meeting Swiss Society of Endocrinology and Diabetology and of the Association of the Study of Obesity and Metabolism, Bern, Switzerland, 1-2 December 2011.
 
An interdisciplinary education program training health professionals to encourage physical activity in patients with type 2 diabetes
Giet O, Sofra D, Cancelli T, Allet L, Marques-Vidal P, Ruiz J, Pitteloud N, Delgado H, Castellsague M, Negre Ch et al., 2011/06. dans Endocrine Society's 93rd Annual Meeting, Boston, USA, 4-7 June 2011.
 
An interdisciplinary education program training health professionals to encourage physical activity in patients with type 2 diabetes (DIAfit)
Giet Olivier, Cancelli Timmy, Beer Sandra, Allet Lara, Marques-Vidal Pedro Manuel, Ruiz Juan, Pitteloud Nelly, Delgado-Velez Humberto, Castellsague Perolini Montserrat, Nègre Chantal et al., 2011/05. pp. 8S dans 79th Annual Meeting of the Swiss Society for Internal Medicine, Lausanne, Switzerland, 11-13 May 2011, Swiss Medical Forum.
A genetic basis for functional hypothalamic amenorrhea.
Caronia L.M., Martin C., Welt C.K., Sykiotis G.P., Quinton R., Thambundit A., Avbelj M., Dhruvakumar S., Plummer L., Hughes V.A. et al., 2011. New England Journal of Medicine, 364 (3) pp. 215-225. Peer-reviewed.
 
An interdisciplinary education program training health professionals to encourage physical activity in patients with type 2 diabetes
Giet O., Sofra D., Cancelli T., Allet L., Marques-Vidal P., Ruiz J., Pitteloud N., Delgado H., Castellsague M., Negre Ch. et al., 2011. dans Swiss Public Health Conference 2011, Basel, Switzerland, 25.-26. August 2011.
An interdisciplinary education program training health professionals to encourage physical activity in patients with type 2 diabetes.
Giet O., Sofra D., Cancelli T., Allet L., Marques-Vidal P., Ruiz J., Pitteloud N., Delgado H., Castellsague M., Nègre Ch. et al., 2011. p. 17 dans Jahresversammlung SGED 2011 = Assemblée annuelle SSED, 1-2 December 2011, Inselspital Bern, Switzerland, Baden: Schweizerische Gesellschaft für Endokrinologie und Diabetologie.
 
An interdisciplinary education programme training health professionals to encourage physical activity in patients with type 2 diabetes (DIAfit).
Giet Olivier, Cancelli Timmy, Beer Sandra, Allet Lara, Marques-Vidal Pedro Manuel, Ruiz Juan, Pitteloud Nelly, Delgado-Velez Humberto, Castellsague Perolini Montserrat, Nègre Chantal et al., 2011. pp. 8S dans 79e Assemblée annuelle de la Société suisse de médecine interne générale, Lausanne, Suisse, 11-13 mai 2011, Swiss Medical Forum.
 
Estradiol levels in men with congenital hypogonadotropic hypogonadism and the effects of different modalities of hormonal treatment.
Trabado S., Maione L., Salenave S., Baron S., Galland F., Bry-Gauillard H., Guiochon-Mantel A., Chanson P., Pitteloud N., Sinisi A.A. et al., 2011. Fertility and Sterility, 95 (7) pp. 2324-2329.
 
Expanding the phenotype and genotype of female GnRH deficiency.
Shaw N.D., Seminara S.B., Welt C.K., Au M.G., Plummer L., Hughes V.A., Dwyer A.A., Martin K.A., Quinton R., Mericq V. et al., 2011. Journal of Clinical Endocrinology and Metabolism, 96 (3) pp. E566-E576.
 
Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.
Mitchell A.L., Dwyer A., Pitteloud N., Quinton R., 2011. Trends In Endocrinology and Metabolism, 22 (7) pp. 249-258.
 
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
Chan Y.M., Broder-Fingert S., Paraschos S., Lapatto R., Au M., Hughes V., Bianco S.D., Min L., Plummer L., Cerrato F. et al., 2011. Journal of Clinical Endocrinology and Metabolism, 96 (11) pp. E1771-E1781.
 
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Tornberg J., Sykiotis G.P., Keefe K., Plummer L., Hoang X., Hall J.E., Quinton R., Seminara S.B., Hughes V., Van Vliet G. et al., 2011. Proceedings of the National Academy of Sciences of the United States of America, 108 (28) pp. 11524-11529.
 
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
McCabe M.J., Gaston-Massuet C., Tziaferi V., Gregory L.C., Alatzoglou K.S., Signore M., Puelles E., Gerrelli D., Farooqi I.S., Raza J. et al., 2011. Journal of Clinical Endocrinology and Metabolism, 96 (10) pp. E1709-E1718.
Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.
Miraoui H., Dwyer A., Pitteloud N., 2011. Molecular and Cellular Endocrinology, 346 (1-2) pp. 37-43.
 
The puzzles of the prokineticin 2 pathway in human reproduction.
Balasubramanian R., Plummer L., Sidis Y., Pitteloud N., Martin C., Zhou Q.Y., Crowley W.F., 2011. Molecular and Cellular Endocrinology, 346 (1-2) pp. 44-50.
 
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.
Martin C., Balasubramanian R., Dwyer A.A., Au M.G., Sidis Y., Kaiser U.B., Seminara S.B., Pitteloud N., Zhou Q.Y., Crowley W.F., 2011. Endocrine Reviews, 32 (2) pp. 225-246.
Transformation of a microprolactinoma into a mixed growth hormone and prolactin-secreting pituitary adenoma.
Dessimoz C., Browaeys P., Maeder P., Lhermitte B., Pitteloud N., Momjian S., Pralong F.P., 2011. Frontiers in Endocrinology, 2 (116) pp. 1-5.
 
Complex genetics in idiopathic hypogonadotropic hypogonadism.
Pitteloud N., Durrani S., Raivio T., Sykiotis G.P., 2010. Frontiers of Hormone Research, 39 pp. 142-153. Peer-reviewed.
 
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
Sykiotis G.P., Hoang X.H., Avbelj M., Hayes F.J., Thambundit A., Dwyer A., Au M., Plummer L., Crowley W.F., Pitteloud N., 2010. Journal of Clinical Endocrinology and Metabolism, 95 (6) pp. 3019-3027. Peer-reviewed.
 
Deciphering genetic disease in the genomic era: the model of GnRH deficiency.
Sykiotis G.P., Pitteloud N., Seminara S.B., Kaiser U.B., Crowley W.F., 2010. Science Translational Medicine, 2 (32) pp. 32rv2. Peer-reviewed.
 
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R., Dwyer A., Seminara S.B., Pitteloud N., Kaiser U.B., Crowley W.F., 2010. Neuroendocrinology, 92 (2) pp. 81-99.
 
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
Trarbach E.B., Abreu A.P., Silveira L.F., Garmes H.M., Baptista M.T., Teles M.G., Costa E.M., Mohammadi M., Pitteloud N., Mendonca B.B. et al., 2010. Journal of Clinical Endocrinology and Metabolism, 95 (7) pp. 3491-3496.
 
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.
Sykiotis G.P., Plummer L., Hughes V.A., Au M., Durrani S., Nayak-Young S., Dwyer A.A., Quinton R., Hall J.E., Gusella J.F. et al., 2010. Proceedings of the National Academy of Sciences of the United States of America, 107 (34) pp. 15140-15144. Peer-reviewed.
 
The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism.
Dwyer A.A., Hayes F.J., Plummer L., Pitteloud N., Crowley W.F., 2010. Journal of Clinical Endocrinology and Metabolism, 95 (9) pp. 4235-4243.
 
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
Jongmans M.C., van Ravenswaaij-Arts C.M., Pitteloud N., Ogata T., Sato N., Claahsen-van der Grinten H.L., van der Donk K., Seminara S., Bergman J.E., Brunner H.G. et al., 2009. Clinical Genetics, 75 (1) pp. 65-71. Peer-reviewed.
 
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.
Chan Y.M., de Guillebon A., Lang-Muritano M., Plummer L., Cerrato F., Tsiaras S., Gaspert A., Lavoie H.B., Wu C.H., Crowley W.F. et al., 2009. Proceedings of the National Academy of Sciences of the United States of America, 106 (28) pp. 11703-11708. Peer-reviewed.
 
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T., Sidis Y., Plummer L., Chen H., Ma J., Mukherjee A., Jacobson-Dickman E., Quinton R., Van Vliet G., Lavoie H. et al., 2009. Journal of Clinical Endocrinology and Metabolism, 94 (11) pp. 4380-4390. Peer-reviewed.
 
Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation.
Pitteloud N., Thambundit A., Dwyer A.A., Falardeau J.L., Plummer L., Caronia L.M., Hayes F.J., Lee H., Boepple P.A., Crowley W.F., 2009. Neuroendocrinology, 90 (3) pp. 260-268. Peer-reviewed.
 
A crystallographic snapshot of tyrosine trans-phosphorylation in action.
Chen H., Xu C.F., Ma J., Eliseenkova A.V., Li W., Pollock P.M., Pitteloud N., Miller W.T., Neubert T.A., Mohammadi M., 2008. Proceedings of the National Academy of Sciences of the United States of America, 105 (50) pp. 19660-19665. Peer-reviewed.
 
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J., Chung W.C., Beenken A., Raivio T., Plummer L., Sidis Y., Jacobson-Dickman E.E., Eliseenkova A.V., Ma J., Dwyer A. et al., 2008. Journal of Clinical Investigation, 118 (8) pp. 2822-2831.
 
Inhibition of luteinizing hormone secretion by testosterone in men requires aromatization for its pituitary but not its hypothalamic effects: evidence from the tandem study of normal and gonadotropin-releasing hormone-deficient men.
Pitteloud N., Dwyer A.A., DeCruz S., Lee H., Boepple P.A., Crowley W.F., Hayes F.J., 2008. Journal of Clinical Endocrinology and Metabolism, 93 (3) pp. 784-791. Peer-reviewed.
 
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
Cole L.W., Sidis Y., Zhang C., Quinton R., Plummer L., Pignatelli D., Hughes V.A., Dwyer A.A., Raivio T., Hayes F.J. et al., 2008. Journal of Clinical Endocrinology and Metabolism, 93 (9) pp. 3551-3559. Peer-reviewed.
 
New genes controlling human reproduction and how you find them.
Crowley W.F., Pitteloud N., Seminara S., 2008. Transactions of the American Clinical and Climatological Association, 119 pp. 29-37; discussion 37-8. Peer-reviewed.
 
Relative roles of inhibin B and sex steroids in the negative feedback regulation of follicle-stimulating hormone in men across the full spectrum of seminiferous epithelium function.
Boepple P.A., Hayes F.J., Dwyer A.A., Raivio T., Lee H., Crowley W.F., Pitteloud N., 2008. Journal of Clinical Endocrinology and Metabolism, 93 (5) pp. 1809-1814. Peer-reviewed.
 
The relative role of gonadal sex steroids and gonadotropin-releasing hormone pulse frequency in the regulation of follicle-stimulating hormone secretion in men.
Pitteloud N., Dwyer A.A., DeCruz S., Lee H., Boepple P.A., Crowley W.F., Hayes F.J., 2008. Journal of Clinical Endocrinology and Metabolism, 93 (7) pp. 2686-2692. Peer-reviewed.
 
Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadism.
Yialamas M.A., Dwyer A.A., Hanley E., Lee H., Pitteloud N., Hayes F.J., 2007. Journal of Clinical Endocrinology and Metabolism, 92 (11) pp. 4254-4259. Peer-reviewed.
 
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
Pitteloud N., Quinton R., Pearce S., Raivio T., Acierno J., Dwyer A., Plummer L., Hughes V., Seminara S., Cheng Y.Z. et al., 2007. Journal of Clinical Investigation, 117 (2) pp. 457-463. Peer-reviewed.
 
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N., Zhang C., Pignatelli D., Li J.D., Raivio T., Cole L.W., Plummer L., Jacobson-Dickman E.E., Mellon P.L., Zhou Q.Y. et al., 2007. Proceedings of the National Academy of Sciences of the United States of America, 104 (44) pp. 17447-17452. Peer-reviewed.
 
Reversal of idiopathic hypogonadotropic hypogonadism.
Raivio T., Falardeau J., Dwyer A., Quinton R., Hayes F.J., Hughes V.A., Cole L.W., Pearce S.H., Lee H., Boepple P. et al., 2007. New England Journal of Medicine, 357 (9) pp. 863-873. Peer-reviewed.
 
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
Cerrato F., Shagoury J., Kralickova M., Dwyer A., Falardeau J., Ozata M., Van Vliet G., Bouloux P., Hall J.E., Hayes F.J. et al., 2006. European Journal of Endocrinology, 155 (Suppl 1) pp. S3-S10. Peer-reviewed.
 
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Pitteloud N., Acierno J.S., Meysing A., Eliseenkova A.V., Ma J., Ibrahimi O.A., Metzger D.L., Hayes F.J., Dwyer A.A., Hughes V.A. et al., 2006. Proceedings of the National Academy of Sciences of the United States of America, 103 (16) pp. 6281-6286. Peer-reviewed.
 
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Pitteloud N., Meysing A., Quinton R., Acierno J.S., Dwyer A.A., Plummer L., Fliers E., Boepple P., Hayes F., Seminara S. et al., 2006. Molecular and Cellular Endocrinology, 254-255 pp. 60-69. Peer-reviewed.
 
Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.
Pallais J.C., Bo-Abbas Y., Pitteloud N., Crowley W.F., Seminara S.B., 2006. Molecular and Cellular Endocrinology, 254-255 pp. 70-77. Peer-reviewed.
 
Testis morphology in patients with idiopathic hypogonadotropic hypogonadism.
Kumar P.A., Pitteloud N., Andrews P.A., Dwyer A., Hayes F., Crowley W.F., Dym M., 2006. Human Reproduction, 21 (4) pp. 1033-1040. Peer-reviewed.
 
Increasing insulin resistance is associated with a decrease in Leydig cell testosterone secretion in men.
Pitteloud N., Hardin M., Dwyer A.A., Valassi E., Yialamas M., Elahi D., Hayes F.J., 2005. Journal of Clinical Endocrinology and Metabolism, 90 (5) pp. 2636-2641. Peer-reviewed.
 
Kallmann syndrome in a 47,XXX patient.
Corssmit E.P., Seminara S.B., Pitteloud N., Fliers E., 2005. American Journal of Medical Genetics. Part A, 139 (1) pp. 52-53. Peer-reviewed.
 
Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men.
Pitteloud N., Mootha V.K., Dwyer A.A., Hardin M., Lee H., Eriksson K.F., Tripathy D., Yialamas M., Groop L., Elahi D. et al., 2005. Diabetes Care, 28 (7) pp. 1636-1642. Peer-reviewed.
 
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
Pitteloud N., Acierno J.S., Meysing A.U., Dwyer A.A., Hayes F.J., Crowley W.F., 2005. Journal of Clinical Endocrinology and Metabolism, 90 (3) pp. 1317-1322. Peer-reviewed.
 
Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.
Pitteloud N., Villegas J., Dwyer A.A., Crowley W.F., McPhaul M.J., Hayes F.J., 2004. Journal of Clinical Endocrinology and Metabolism, 89 (3) pp. 1053-1058. Peer-reviewed.
 
Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.
Pitteloud N., Hayes F.J., Dwyer A., Boepple P.A., Lee H., Crowley W.F., 2002. Journal of Clinical Endocrinology and Metabolism, 87 (9) pp. 4128-4136. Peer-reviewed.
 
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.
Pitteloud N., Hayes F.J., Boepple P.A., DeCruz S., Seminara S.B., MacLaughlin D.T., Crowley W.F., 2002. Journal of Clinical Endocrinology and Metabolism, 87 (1) pp. 152-160.
 
Importance of inhibin B in the regulation of FSH secretion in the human male.
Hayes F.J., Pitteloud N., DeCruz S., Crowley W.F., Boepple P.A., 2001. Journal of Clinical Endocrinology and Metabolism, 86 (11) pp. 5541-5546. Peer-reviewed.
 
Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism.
Beranova M., Oliveira L.M., Bédécarrats G.Y., Schipani E., Vallejo M., Ammini A.C., Quintos J.B., Hall J.E., Martin K.A., Hayes F.J. et al., 2001. Journal of Clinical Endocrinology and Metabolism, 86 (4) pp. 1580-1588. Peer-reviewed.
 
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor.
Pitteloud N., Boepple P.A., DeCruz S., Valkenburgh S.B., Crowley W.F., Hayes F.J., 2001. Journal of Clinical Endocrinology and Metabolism, 86 (6) pp. 2470-2475. Peer-reviewed.
 
Characteristics of Caucasian type 2 diabetic patients during ketoacidosis and at follow-up.
Pitteloud N., Philippe J., 2000. Schweizerische Medizinische Wochenschrift, 130 (16) pp. 576-582. Peer-reviewed.
 
Hypogonadotropic Hypogonadism (Hh) and Gonadotropin Therapy
Hayes F., Dwyer A., Pitteloud N., 2000. Endotext pp. 1-25. Peer-reviewed.
 
Ketoacidosis during gestational diabetes. Case report.
Pitteloud N., Binz K., Caulfield A., Philippe J., 1998. Diabetes Care, 21 (6) pp. 1031-1032. Peer-reviewed.
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