Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2010) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1

(2010) K. Miura et al.   HUMAN REPRODUCTION

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

(2010) Luis Teixeira et al.   JOURNAL OF CLINICAL INVESTIGATION

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

(2009) J Wincent et al.   CLINICAL GENETICS

CHD7mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

(2009) MCJ Jongmans et al.   CLINICAL GENETICS

Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype

(2009) Josephine Wincent et al.   European Journal of Medical Genetics

Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

(2009) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes

(2009) Julie Sarfati et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

(2009) Suzy D. C. Bianco et al.   Nature Reviews Endocrinology

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kallmann syndrome

(2008) Catherine Dodé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

(2008) Ana Paula Abreu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

(2008) John Falardeau et al.   JOURNAL OF CLINICAL INVESTIGATION