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Kirsten Davidse, Anneloes van Staa, Wanda Geilvoet, Judith P van Eck, Karlijn Pellikaan, Janneke Baan, Anita C S Hokken-Koelega, Erica L T van den Akker, Theo Sas, Sabine E Hannema, Aart Jan van der Lely, and Laura C G de Graaff

-Albright syndrome 1 DAX1 gene mutation 1 Toxic thyroid adenoma 1 Kallmann syndrome 1 Prolactinoma 4 Multiple endocrine neoplasia syndrome type 2A 4 Ovotesticular disorder of sex development 1 Childhood

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Tristan Avril, Quentin Hennocq, Anne-Sophie Lambert, Juliane Leger, Dominique Simon, Laetitia Martinerie, and Claire Bouvattier

-Gauillard H Cartes A Bouligand J Young J . Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life . Orphanet Journal of Rare Diseases 2015 10 71. ( ) 8 Kohva E Huopio H Hietamäki J

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Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, and Maria Teresa Bonati

hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients . Journal of Clinical Endocrinology and Metabolism 2014 99 E268 – E275 . ( ) 26 Young J

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Mikkel Andreassen, Anders Juul, Ulla Feldt-Rasmussen, and Niels Jørgensen

hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome) . Journal of Clinical Endocrinology and Metabolism 1980 51 275 – 279 . ( ) 10.1210/jcem-51-2-275 30 Pugeat M Crave JC Tourniaire J Forest MG. Clinical

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Lisette van Alewijk, Kirsten Davidse, Karlijn Pellikaan, Judith van Eck, Anita C S Hokken-Koelega, Theo C J Sas, Sabine Hannema, Aart J van der Lely, and Laura C G de Graaff

-acquired) and underlying aetiology (37) 2  Sex chromosome mosaicism (45X/46XY) 1:1300 (prevalence) (44) 2  Premature Ovarian Failure 1:10,000 of women < 30 years old (45) 2  Hypogonadotropic hypogonadism (including Kallmann syndrome

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Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, and Aldo E Calogero

Kallmann syndrome (KAL1, FGFR1, PROK2, PROK2R were evaluated and no mutations resulted). He had a 46,XY karyotype and a 568 kb pure duplication on the 15q26.3 chromosome, diagnosed by array-CGH. This duplication was not detected in the mother. The father

Open access

Luca Persani, Biagio Cangiano, and Marco Bonomi

.1016/j.beem.2010.10.014 27 Raivio T Avbelj M McCabe MJ Romero CJ Dwyer AA Tommiska J Sykiotis GP Gregory LC Diaczok D Tziaferi V , Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia . Journal of