نتایج جستجو برای: kallmann syndrome

تعداد نتایج: 621960  

Journal: :Human reproduction 2012
Jacques Young Corinne Metay Jerome Bouligand Bassim Tou Bruno Francou Luigi Maione Lucie Tosca Julie Sarfati Frédéric Brioude Blandine Esteva Audrey Briand-Suleau Sophie Brisset Michel Goossens Gerard Tachdjian Anne Guiochon-Mantel

BACKGROUND Kallmann syndrome (KS) is a genetic disorder associating pubertal failure with congenitally absent or impaired sense of smell. KS is related to defective neuronal development affecting both the migration of olfactory nerve endings and GnRH neurons. The discovery of several genetic mutations responsible for KS led to the identification of signaling pathways involved in these processes...

Journal: :Human molecular genetics 2004
Anna Cariboni Federica Pimpinelli Sophia Colamarino Roberta Zaninetti Margherita Piccolella Cristiano Rumio Flavio Piva Elena I Rugarli Roberto Maggi

X-linked Kallmann's syndrome (KS) is a genetic disease characterized by anosmia and hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GnRH)-producing neurons. Deletions or point mutations of a gene located at Xp22.3 (KAL1) are responsible for the disease. This gene encodes for a secreted heparin-binding protein (KAL or a...

Journal: :Endocrines 2021

Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental disorders characterized by low gonadotropin levels in the face sex steroid hormone concentrations. IHH practically divided into two major groups according to olfactory function: normal sense smell (normosmia) nIHH, and reduced (hyposmia/anosmia) Kallmann syndrome (KS). Although mutations more than 50 genes have been...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1959
N McConaghy

Much evidence is now available as to the importance of the hereditary factor in the causation of schizophrenic psychoses. However, the mode of inheritance still remains doubtful, Luxemburger and Kallmann favouring a recessive, and Lenz a dominant type. Kallmann has consistently advanced the theory that a specific recessive gene transmits the disorder, but that its effects can be successfully re...

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