Switzerland Research Centres LAUSANNE - Nelly Pitteloud, MD Centre Hospitalier Universitaire Vaudois Service d'Endocrinologie, Diabetologie et Metabolisme Language French, English The Genetic Investigation of Reproductive Disorders The Health Needs of Men with Kallmann Syndrome ZURICH - Mariarosaria
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Romania Research Centre CLUJ-NAPOCA - Chistina Ghervan, MD, PhD County Emergency University Hospital Endocrinology Department Language Romanian, English, French Research study contact Email or +40 744 398 417
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Portugal Research Centre PORTO - Duarte Pignatelli, MD, PhD Hospital S João Department of Endocrinology Porto, Portugal Languages Portuguese, Spanish, French and English Research Study Contact Email or + 351 919736828
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Norway Research Centre OSLO - Irah Haraldsen, MD, PhD Oslo University Hosptial National Competence Centre of Gender Identity-Psychosomatic Medicine Language Norwegian Research study contact Email
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Spain Research Centre MADRID - Beatriz Lecumberri, MD, PhD Hospital Universitario La Paz Servicio de Endocrinologia y Nutricion Language Spanish, English Research study contact Email or +34 917 277 100
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KISS1 KISS1 METASTASIS SUPPRESSOR, KISSPEPTIN 1 OMIM 603286 Located at chromosome 1q32.1 Encodes kisspeptins, G protein-coupled receptor ligands (Ohtaki, Shintani et al. 2001). KISS1 comprises 3 exons. The transcript, KISS1-001 ENST00000367194 (NM_002256.3), encodes a 138 amino acid precursor peptid
chuv.ch/en/hhn/hhn-home/research/gene-curation/kiss1
KAL1 KALLMANN SYNDROME 1 OMIM 300836 Located at chromosome Xp22.3 Encodes the extracellular matrix protein anosmin 1 KAL1 comprises 14 exons and the corresponding mRNA (NM_000216.2) encodes a 680 amino acid secreted glycoprotein. Human genetics KAL1 was the first gene to be associated with Kallmann
chuv.ch/en/hhn/hhn-home/research/gene-curation/kal1
PROK2 PROKINETICIN 2 OMIM 607002 Located at chromosome 3p21.1 Encodes prokineticin 2, a G protein-coupled receptor ligand PROK2 comprises 4 exons (exon 3 undergoing alternative splicing) and encodes the corresponding mRNA (NM_001126128.13). The mature form (signal peptide processed) contains 81 amin
chuv.ch/en/hhn/hhn-home/research/gene-curation/prok2
FGFR1 FIBROBLAST GROWTH FACTOR RECEPTOR 1 OMIM 136350 Located at chromosome 8p11.2 Encodes the fibroblast growth factor receptor 1, a cell surface receptor of the tyrosine kinase family. FGFR1 comprises 18 exons and the corresponding mRNA (NM_023110.2) encodes an 820 amino acid protein, FGFR1. Human
chuv.ch/en/hhn/hhn-home/research/gene-curation/fgfr1
GNRH1 GONADOTROPIN-RELEASING HORMONE 1 OMIM 152760 Located at chromosome 8p21-p11.2 Encodes gonadotropin-releasing hormone 1 (GnRH1, a.k.a. luteinizing-hormone releasing hormone, LHRH), which is a key molecule in the hypothalamic-pituitary-gonadal axis that controls human reproduction. GnRH1 is secr
chuv.ch/en/hhn/hhn-home/research/gene-curation/gnrh1