TY - JOUR AU - Young, J. AU - Shaison, G. PY - 1998 DA - 1998// TI - Hypogonadisme hypogonadotrophique: données récentes JO - Rev Fr Endocrinol Clin Nutr Metab VL - 39 ID - Young1998 ER - TY - JOUR AU - Sedlemeyer, I. L. AU - Palmer, M. R. PY - 2002 DA - 2002// TI - Delayed puberty: analysis of a large case series from an academic center JO - J Clin Endocrinol Metab VL - 87 UR - https://doi.org/10.1210/jcem.87.4.8395 DO - 10.1210/jcem.87.4.8395 ID - Sedlemeyer2002 ER - TY - JOUR AU - Salenave, S. AU - Chanson, P. AU - Bry, H. PY - 2008 DA - 2008// TI - Kallmann’s syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations JO - J Clin Endocrinol Metab VL - 93 UR - https://doi.org/10.1210/jc.2007-1168 DO - 10.1210/jc.2007-1168 ID - Salenave2008 ER - TY - JOUR AU - Crowley, W. F. AU - Filicori, M. AU - Spratt, D. I. PY - 1985 DA - 1985// TI - The physiology of gonadotropin-releasing hormone secretion in men and women JO - Recent Prog Horm Res VL - 41 ID - Crowley1985 ER - TY - JOUR AU - Chabbert Buffet, N. AU - Bouchard, P. PY - 1999 DA - 1999// TI - Physiologie de l’axe gonadotrope JO - Rev Pract VL - 49 ID - Chabbert Buffet1999 ER - TY - JOUR AU - Main, K. M. AU - Schmidt, I. M. AU - Skakkebaek, N. E. PY - 2000 DA - 2000// TI - A possible role for reproductive hormones in newborn boys: progressive hypogonadism without the postnatal testosterone peak JO - J Clin Endocrinol Metab VL - 85 UR - https://doi.org/10.1210/jcem.85.12.7058 DO - 10.1210/jcem.85.12.7058 ID - Main2000 ER - TY - JOUR AU - Delamarre van de Wall, H. A. PY - 2004 DA - 2004// TI - Application of gonadotropin releasing hormone in hypogonadotropic hypogonadism diagnostic and therapeutic aspects JO - Eur J Endocrinol VL - 151 UR - https://doi.org/10.1530/eje.0.151U089 DO - 10.1530/eje.0.151U089 ID - Delamarre van de Wall2004 ER - TY - JOUR AU - Kallmann, F. J. AU - Schoenfeld, W. A. AU - Barrera, S. E. PY - 1944 DA - 1944// TI - The genetic aspects of primary eunuchoidism JO - Am J Mental Deficiency VL - XLVIII ID - Kallmann1944 ER - TY - JOUR AU - Dodé, C. AU - Hardelin, J. P. PY - 2010 DA - 2010// TI - Syndrome de Kallmann-De Morsier: génétique clinique JO - Ann Endocrinol VL - 71 UR - https://doi.org/10.1016/j.ando.2010.02.005 DO - 10.1016/j.ando.2010.02.005 ID - Dodé2010 ER - TY - JOUR AU - Sato, N. AU - Katsumata, N. AU - Kagami, M. PY - 2004 DA - 2004// TI - Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast gowth factor receptor 1 (FGFR1 or KAL 2) in five families and 18 sporadic patients JO - J Clin Endocrinol Metab VL - 89 UR - https://doi.org/10.1210/jc.2003-030476 DO - 10.1210/jc.2003-030476 ID - Sato2004 ER - TY - JOUR AU - Klingmuller, D. AU - Dewes, W. AU - Krahe, T. PY - 1987 DA - 1987// TI - Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann syndrome) JO - J Clin Endocrinol Metab VL - 65 UR - https://doi.org/10.1210/jcem-65-3-581 DO - 10.1210/jcem-65-3-581 ID - Klingmuller1987 ER - TY - JOUR AU - Aiba, T. AU - Inoue, Y. AU - Matsumoto, K. PY - 2004 DA - 2004// TI - Magnetic resonance imaging for diagnosis of congenital anosmia JO - Acta Otolaryngol Suppl VL - 554 UR - https://doi.org/10.1080/03655230410018363 DO - 10.1080/03655230410018363 ID - Aiba2004 ER - TY - JOUR AU - Quinton, R. AU - Duke, V. M. AU - Zoysa, P. A. PY - 1996 DA - 1996// TI - The neuroradiology of Kallmann’s syndrome: a genotypic and phenotypic analysis JO - J Clin Endocrinol Metab VL - 81 ID - Quinton1996 ER - TY - JOUR AU - Mayston, M. J. AU - Harrison, L. M. AU - Stephens, J. A. PY - 2001 DA - 2001// TI - Physiological tremor in human subjects with X-linked Kallmann’s syndrome and mirror movements JO - J Physiol VL - 530 UR - https://doi.org/10.1111/j.1469-7793.2001.0551k.x DO - 10.1111/j.1469-7793.2001.0551k.x ID - Mayston2001 ER - TY - JOUR AU - Sukthar, S. AU - Watson, A. R. PY - 2000 DA - 2000// TI - Unilateral multicystic dysplasic kidney disease, defining the natural history JO - Acta Pediatr VL - 89 UR - https://doi.org/10.1080/080352500750043701 DO - 10.1080/080352500750043701 ID - Sukthar2000 ER - TY - JOUR AU - Ansari, N. PY - 2008 DA - 2008// TI - Le syndrome de Kallmann-De Morsier, aspect génétique JO - Andrologie VL - 18 UR - https://doi.org/10.1007/BF03040390 DO - 10.1007/BF03040390 ID - Ansari2008 ER - TY - JOUR AU - Hardelin, J. P. AU - Levilliers, J. AU - Blanchard, S. PY - 1993 DA - 1993// TI - Heterogeneity in the mutations resposible for X chromosome-linked Kallmann syndrome JO - Hum Mol Genet VL - 2 UR - https://doi.org/10.1093/hmg/2.4.373 DO - 10.1093/hmg/2.4.373 ID - Hardelin1993 ER - TY - JOUR AU - Dodé, C. AU - Hardelin, J. P. PY - 2004 DA - 2004// TI - Syndrome de Kallmann-De Morsier, insuffisance de signalisation par les FGF JO - Med Sci VL - 20 ID - Dodé2004 ER - TY - JOUR AU - Hébert, J. M. AU - Lin, M. AU - Partanen, J. PY - 2003 DA - 2003// TI - FGF signaling through FGFR1 is required for olfactory bulb morphogenesis JO - Development VL - 130 UR - https://doi.org/10.1242/dev.00334 DO - 10.1242/dev.00334 ID - Hébert2003 ER - TY - JOUR AU - Pitteloud, N. AU - James, S. AU - Astrid, U. PY - 2005 DA - 2005// TI - Reversible Kallmann Syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene JO - J Clin Endocrinol Metab VL - 90 UR - https://doi.org/10.1210/jc.2004-1361 DO - 10.1210/jc.2004-1361 ID - Pitteloud2005 ER - TY - JOUR AU - Dodé, C. AU - Teixeira, L. AU - Levilliers, J. PY - 2006 DA - 2006// TI - Kallmann syndrome: mutation in the genes encoding prokineticin-2 and prokineticin receptor-2 JO - PloS Genet VL - 10 ID - Dodé2006 ER - TY - JOUR AU - Abreu, A. AU - Trarbach, E. B. AU - Castro, M. PY - 2008 DA - 2008// TI - Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome JO - J Clin Endocrinol Metab VL - 10 UR - https://doi.org/10.1210/jc.2008-0958 DO - 10.1210/jc.2008-0958 ID - Abreu2008 ER - TY - JOUR AU - Sarfati, J. AU - Guiochon-Mantel, A. AU - Rondard, P. PY - 2010 DA - 2010// TI - A Comparative phenotypic study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin-2 or prokineticin receptor-2 genes JO - J Clin Endocrinol Metab VL - 95 UR - https://doi.org/10.1210/jc.2009-0843 DO - 10.1210/jc.2009-0843 ID - Sarfati2010 ER - TY - JOUR AU - Xu, N. AU - Bhagavath, B. AU - Kim, H. G. PY - 2010 DA - 2010// TI - NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration JO - Mol Cell Endocrinol VL - 19 UR - https://doi.org/10.1016/j.mce.2009.11.016 DO - 10.1016/j.mce.2009.11.016 ID - Xu2010 ER - TY - JOUR AU - Miura, K. AU - Acierno, J. S. AU - Seminara, S. B. PY - 2004 DA - 2004// TI - Characterization of the human nasal embryonic LHRH factor gene NELF and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH) JO - J Hum Genet VL - 49 UR - https://doi.org/10.1007/s10038-004-0137-4 DO - 10.1007/s10038-004-0137-4 ID - Miura2004 ER - TY - JOUR AU - Falardeau, J. AU - Chung, C. J. AU - Beenken, A. PY - 2008 DA - 2008// TI - Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice JO - J Clin Invest VL - 118 UR - https://doi.org/10.1172/JCI34538 DO - 10.1172/JCI34538 ID - Falardeau2008 ER - TY - JOUR AU - Trarbach, E. B. AU - Abreu, A. P. AU - Silveira, L. F. PY - 2010 DA - 2010// TI - Nonsensemutations in FGF8 gene causing different degrees of human gonadotropinreleasing deficiency JO - J Clin Endocrinol Metab VL - 95 UR - https://doi.org/10.1210/jc.2010-0176 DO - 10.1210/jc.2010-0176 ID - Trarbach2010 ER - TY - JOUR AU - Kim, H. G. AU - Ahn, J. W. AU - Kurth, I. PY - 2010 DA - 2010// TI - WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome JO - Am J Hum Genet VL - 87 UR - https://doi.org/10.1016/j.ajhg.2010.08.018 DO - 10.1016/j.ajhg.2010.08.018 ID - Kim2010 ER - TY - JOUR AU - Semple, R. K. AU - Topaloglu, A. K. PY - 2010 DA - 2010// TI - The recent genetics of hypogonadotrophic hypogonadism-novel insights and new questions JO - Clin Endocrinol VL - 72 UR - https://doi.org/10.1111/j.1365-2265.2009.03687.x DO - 10.1111/j.1365-2265.2009.03687.x ID - Semple2010 ER - TY - JOUR AU - Ribeiro, R. S. AU - Vieira, T. AU - Abucham, J. PY - 2007 DA - 2007// TI - Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review JO - Eur J Endocrinol VL - 156 UR - https://doi.org/10.1530/eje.1.02342 DO - 10.1530/eje.1.02342 ID - Ribeiro2007 ER - TY - JOUR AU - Burman, P. AU - Ritzen, E. M. AU - Lindgren, A. C. PY - 2001 DA - 2001// TI - Endocrine dysfonction in Prader-Willi syndrome: a review with special reference to GH JO - Endoc Rev VL - 22 UR - https://doi.org/10.1210/edrv.22.6.0447 DO - 10.1210/edrv.22.6.0447 ID - Burman2001 ER - TY - JOUR AU - Janssen, S. AU - Ramaswami, G. AU - Davis, E. E. PY - 2011 DA - 2011// TI - Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals JO - Hum Genet VL - 129 UR - https://doi.org/10.1007/s00439-010-0902-8 DO - 10.1007/s00439-010-0902-8 ID - Janssen2011 ER - TY - JOUR AU - Zentner, G. E. AU - Layman, W. S. AU - Martin, D. M. PY - 2010 DA - 2010// TI - Molecular and phenotypic aspects of CHD7 mutation in Charge syndrome JO - Am J Med Genet VL - 152A UR - https://doi.org/10.1002/ajmg.a.33323 DO - 10.1002/ajmg.a.33323 ID - Zentner2010 ER - TY - JOUR AU - Jogmans, M. C. AU - Ravenswaaij-Arts, C. M. A. AU - Pitteloud, N. PY - 2009 DA - 2009// TI - CHD7 mutations in patients initially diagnosed with Kallmann syndrome — the clinical overlap with Charge syndrome JO - Clin Genet VL - 75 UR - https://doi.org/10.1111/j.1399-0004.2008.01107.x DO - 10.1111/j.1399-0004.2008.01107.x ID - Jogmans2009 ER - TY - JOUR AU - Quinton, R. AU - Barnett, P. AU - Coskeran, P. PY - 1999 DA - 1999// TI - Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone JO - Clin Endocrinol VL - 51 UR - https://doi.org/10.1046/j.1365-2265.1999.00859.x DO - 10.1046/j.1365-2265.1999.00859.x ID - Quinton1999 ER - TY - JOUR AU - Kelberman, D. AU - Rizzoti, K. AU - Avilion, A. PY - 2006 DA - 2006// TI - Mutations within SOX2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans JO - J Clin Invest VL - 116 ID - Kelberman2006 ER - TY - JOUR AU - Strobel, A. AU - Issad, T. AU - Camoin, L. PY - 1998 DA - 1998// TI - A leptin missense mutation associated with hypogonadism and morbid obesity JO - Nat Genet VL - 18 UR - https://doi.org/10.1038/ng0398-213 DO - 10.1038/ng0398-213 ID - Strobel1998 ER - TY - JOUR AU - Chehab, F. F. AU - Lim, M. E. AU - Lu, R. PY - 1996 DA - 1996// TI - Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin JO - Nat Genet VL - 12 UR - https://doi.org/10.1038/ng0396-318 DO - 10.1038/ng0396-318 ID - Chehab1996 ER - TY - JOUR AU - Farooqi, I. S. AU - Wangensteen, T. AU - Collins, S. PY - 2007 DA - 2007// TI - Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor JO - N Engl J Med VL - 356 UR - https://doi.org/10.1056/NEJMoa063988 DO - 10.1056/NEJMoa063988 ID - Farooqi2007 ER - TY - JOUR AU - Jackson, R. S. AU - Creemrs, J. W. AU - Ohagi, S. PY - 1997 DA - 1997// TI - Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene JO - Nat Genet VL - 16 UR - https://doi.org/10.1038/ng0797-303 DO - 10.1038/ng0797-303 ID - Jackson1997 ER - TY - JOUR AU - Lalli, E. AU - Bardoni, B. AU - Zazopoulos, E. PY - 1997 DA - 1997// TI - Transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenital JO - Mol Endocrinol VL - 11 UR - https://doi.org/10.1210/mend.11.13.0038 DO - 10.1210/mend.11.13.0038 ID - Lalli1997 ER - TY - JOUR AU - Mantovani, G. AU - Ozisik, G. AU - Achermann, J. C. PY - 2002 DA - 2002// TI - Hypogonadotropic hypogonadism as a presenting feature of late onset X linked adrenal hypoplasia congenita JO - J Clin Endocrinol Metab VL - 87 UR - https://doi.org/10.1210/jcem.87.1.8163 DO - 10.1210/jcem.87.1.8163 ID - Mantovani2002 ER - TY - JOUR AU - Reynaud, R. AU - Barlier, A. AU - Valette Kasic, S. PY - 2005 DA - 2005// TI - An uncommun phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain JO - J Clin Endocrinol Metab VL - 90 UR - https://doi.org/10.1210/jc.2005-0119 DO - 10.1210/jc.2005-0119 ID - Reynaud2005 ER - TY - JOUR AU - Tajima, T. AU - Hattori, T. AU - Nakajima, T. PY - 2007 DA - 2007// TI - A novel missense mutation (P366T) of the LHX4 causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica JO - Endocr J VL - 54 UR - https://doi.org/10.1507/endocrj.K06-200 DO - 10.1507/endocrj.K06-200 ID - Tajima2007 ER - TY - JOUR AU - Reynaud, R. AU - Guedan, M. AU - Saveanu, A. PY - 2006 DA - 2006// TI - Genetic screening of combined pituitary hormone deficiency: experience in 195 patients JO - J Clin Endocrinol Metab VL - 91 UR - https://doi.org/10.1210/jc.2005-2173 DO - 10.1210/jc.2005-2173 ID - Reynaud2006 ER - TY - JOUR AU - Mason, A. J. AU - Pitts, S. L. AU - Nikolics, K. PY - 1986 DA - 1986// TI - The hypogonadal mouse: reproductive functions restored by gene therapy JO - Science VL - 234 UR - https://doi.org/10.1126/science.3097822 DO - 10.1126/science.3097822 ID - Mason1986 ER - TY - JOUR AU - Bouligand, J. AU - Ghervan, C. AU - Tello, J. PY - 2008 DA - 2008// TI - Isolated familial hypogonadotropic hypogonadism and a GNRH1 Mutation JO - J Clin Invest VL - 118 UR - https://doi.org/10.1172/JCI34538 DO - 10.1172/JCI34538 ID - Bouligand2008 ER - TY - JOUR AU - Chana, Y. M. AU - Guillebona, A. AU - Lang-Muritanoc, M. PY - 2009 DA - 2009// TI - GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism JO - Proc Natl Acad Sci VL - 106 UR - https://doi.org/10.1073/pnas.0903449106 DO - 10.1073/pnas.0903449106 ID - Chana2009 ER - TY - JOUR AU - Roux, N. AU - Young, J. AU - Misrahi, M. PY - 1997 DA - 1997// TI - A family with hypogonadotropic hypogonadism and mutations in the gonadotropinreleasing hormone receptor JO - N Engl J Med VL - 337 UR - https://doi.org/10.1056/NEJM199711273372205 DO - 10.1056/NEJM199711273372205 ID - Roux1997 ER - TY - JOUR AU - Bhagavath, B. AU - Ozata, M. AU - Ozdemir, I. C. PY - 2005 DA - 2005// TI - The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism JO - Fertil Steril VL - 84 UR - https://doi.org/10.1016/j.fertnstert.2005.04.029 DO - 10.1016/j.fertnstert.2005.04.029 ID - Bhagavath2005 ER - TY - JOUR AU - Lafranco, F. AU - Gromoll, J. AU - Eckardstein, S. PY - 2005 DA - 2005// TI - Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism JO - Eur J Endocrinol VL - 153 UR - https://doi.org/10.1530/eje.1.02031 DO - 10.1530/eje.1.02031 ID - Lafranco2005 ER - TY - JOUR AU - Lofrano-Porto, A. AU - Barra, G. B. AU - Giacomini, L. A. PY - 2007 DA - 2007// TI - Luteinizing hormone beta mutation and hypogonadism in men and women JO - N Engl J Med VL - 357 UR - https://doi.org/10.1056/NEJMoa071999 DO - 10.1056/NEJMoa071999 ID - Lofrano-Porto2007 ER - TY - JOUR AU - Achard, C. AU - Courtillot, C. AU - Lahuna, O. PY - 2009 DA - 2009// TI - Normal spermatogenesis in a man with mutant luteinizing hormone JO - N Engl J Med VL - 361 UR - https://doi.org/10.1056/NEJMoa0805792 DO - 10.1056/NEJMoa0805792 ID - Achard2009 ER - TY - JOUR AU - Layman, L. C. AU - McDonough, P. G. PY - 2000 DA - 2000// TI - Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype JO - Mol Cell Endocrinol VL - 161 UR - https://doi.org/10.1016/S0303-7207(99)00217-8 DO - 10.1016/S0303-7207(99)00217-8 ID - Layman2000 ER - TY - JOUR AU - Tapanainen, J. S. AU - Aittomäki, K. AU - Min, J. PY - 1997 DA - 1997// TI - Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility JO - Nat Genet VL - 15 UR - https://doi.org/10.1038/ng0297-205 DO - 10.1038/ng0297-205 ID - Tapanainen1997 ER - TY - JOUR AU - Topaloglu, A. K. AU - Reimann, F. AU - Guclu, M. PY - 2009 DA - 2009// TI - TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction JO - Nat Genet VL - 41 UR - https://doi.org/10.1038/ng.306 DO - 10.1038/ng.306 ID - Topaloglu2009 ER -