Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)
- 25 July 2006
- journal article
- case report
- Published by Elsevier in Molecular and Cellular Endocrinology
- Vol. 254-255, 78-83
- https://doi.org/10.1016/j.mce.2006.04.006
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Kallmann syndrome: 14 novel mutations inKAL1andFGFR1(KAL2)Human Mutation, 2004
- Anosmin-1 Modulates Fibroblast Growth Factor Receptor 1 Signaling in Human Gonadotropin-Releasing Hormone Olfactory Neuroblasts through a Heparan Sulfate-Dependent MechanismJournal of Neuroscience, 2004
- Fibroblast Growth Factor Signaling during Early Vertebrate DevelopmentEndocrine Reviews, 2004
- Kallmann syndrome: fibroblast growth factor signaling insufficiency?Journal of Molecular Medicine, 2004
- Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyriasHuman Genetics, 2003
- FGF signaling through FGFR1 is required for olfactory bulb morphogenesisDevelopment, 2003
- Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeNature Genetics, 2003
- Recent advances in the pathogenesis of Kallmann's syndromePublished by Elsevier ,2002
- Alternative splicing and genome complexityNature Genetics, 2001
- Kallmann syndrome: towards molecular pathogenesisMolecular and Cellular Endocrinology, 2001