Recent Publications on Kallmann Syndrome: |  |
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling-activity.
Kallmann syndrome (KS) combines hypogonadism due to gonadotropin-releasing...
Direct Link | 2nd October, 2008
| CNRS UMR5203, Institut de Genomique Fonctionnelle, INSERM U661, and
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Prokineticin-signaling pathway.
Prokineticin signaling comprises two secreted proteins (Prok-1 and Prok-2)...
Direct Link | 1st October, 2008
| Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong,
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Genetic control of pubertal timing.
PURPOSE OF REVIEW: Puberty is an important developmental and life stage...
Direct Link | 27th September, 2008
| Division of Pediatric Endocrinology, Rainbow Babies and Children's
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Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Idiopathic hypogonadotropic hypogonadism (IHH) with anosmia (Kallmann...
Direct Link | 26th September, 2008
| Harvard Center for Reproductive Endocrine Sciences and Reproductive
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Essential requirement for zebrafish anosmin-1a in the migration of the posterior lateral line primordium.
Kallmann syndrome (KS) is a human genetic disease that impairs both cell...
Direct Link | 10th September, 2008
| INSERM Equipe Avenir, IFR Neurosciences (IFR 70), Hopital de la
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Whole-Brain Voxel-Based Morphometry in Kallmann Syndrome Associated with Mirror Movements.
BACKGROUND AND PURPOSE: There are 2 main hypotheses concerning the cause...
Direct Link | 5th September, 2008
| Divisions of Radiology and Endocrinology and Metabolism, Department of
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Genetic Analysis in Patients with Kallmann Syndrome: Coexistance of Mutations in Prokineticin Receptor 2 and KAL1.
Kallmann syndrome (KS) is characterized by the association of...
Direct Link | 30th August, 2008
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The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS)...
Direct Link | 20th August, 2008
| Section of Endocrinology, Diabetes and Metabolism, Department of Medicine,
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| Sex, smell and vasculitis: Henoch-Schonlein purpura in Kallmann's syndrome.
| 16th August, 2008
| Internal Medicine, East Tennessee State University, USA.
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LOSS-OF-FUNCTION MUTATIONS IN THE GENES ENCODING PROKINETICIN-2 OR PROKINETICIN RECEPTOR-2 CAUSE AUTOSOMAL RECESSIVE KALLMANN SYNDROME.
Context: Physiological activation of the prokineticin pathway has a...
Direct Link | 7th August, 2008
| Developmental Endocrinology Unit, Laboratory of Hormone and Molecular
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| New genes controlling human reproduction and how you find them.
| 4th July, 2008
| Boston, Massachusetts.
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Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.
Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations...
Direct Link | 4th July, 2008
| Department of Clinical and Experimental Medicine and Surgery,
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Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons.
GnRH neurons are essential for the onset and maintenance of reproduction....
Direct Link | 21st June, 2008
| Department of Integrative Physiology and Center for Neuroscience,
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Mutations in prokineticin 2 and prokineticin receptor 2genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
CONTEXT: Mice deficient in prokineticin 2(PROK2) and prokineticin...
Direct Link | 19th June, 2008
| Reproductive Endocrine Unit of the Department of Medicine, Harvard
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| [Kallmann syndrome: a hystorical, clinical and molecular review]
| 18th March, 2008
| Unidade de Neuroendocrinologia, Departamento de Medicina, Escola Paulista
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