Results 161 to 170 of about 2,952 (186)
Some of the next articles are maybe not open access.
Heterogeneity of Kallmann's syndrome
Clinical Genetics, 1985Kallmann's syndrome is a rare condition defined as a combination of hypogonadotropic hypogonadism and anosmia. The present study shows two genealogical tables. In the first family six male members in four generations had Kallmann's syndrome. All carrier females seemed to have normal fertility and normal olfactorial function.
M Hermanussen, W. G. Sippell
openaire +2 more sources
Moebius Syndrome in Kallmann Syndrome
Archives of Neurology, 1975A girl born with congenital paresis of cranial nerves III, IV, and VII (Moeblus syndrome) subsequently developed a progressive peripheral neuropathy. There was suggestive evidence of a familial neuropathy with autosomal dominant inheritance in three family members. The patient also had hypogonadotrophic hypogonadism and anosmia (Kallmann syndrome).
Miles M. Behrens +3 more
openaire +3 more sources
Pregnancy in women with Kallmann’s syndrome
Fertility and Sterility, 1995To induce of ovulation and pregnancy in women with Kallmann's syndrome.Retrospective study.Three women with hypogonadotropic hypogonadism and anosmia with a desire for pregnancy.Investigation of hypothalamic-pituitary-ovarian function and induction of ovulation by pulsatile GnRH or intramuscular human pituitary gonadotropins (hPG) or hMG with hCG ...
Rodney P. Shearman +2 more
openaire +3 more sources
Clinical genetics of Kallmann syndrome
Annales d'Endocrinologie, 2010The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease (KAL1).
Catherine Dodé, Jean-Pierre Hardelin
openaire +3 more sources
Kallmann’s syndrome: molecular pathogenesis
The International Journal of Biochemistry & Cell Biology, 2003Kallmann's syndrome (KS) is a genetic condition characterised by hypogonadotrophic hypogonadism (HH) and anosmia; although these are the defining features of the condition, additional neurological and non-neurological sequel may also occur depending on the specific mode of inheritance. KS affects about 1 in 8000 males and 1 in 40,000 females, with most
Youli Hu +3 more
openaire +3 more sources
Kallmann syndrome. From genetics to neurobiology. [PDF]
JAMA, 1993 IN THE last few years, numerous discoveries in the field of human genetics have had a significant impact both on medical practice and on basic science. Kallmann syndrome represents the first human disease caused by a neuronal migration defect for which the gene has been identified and is a good example of how genetics has permitted the integration of ...
RUGARLI E. I, BALLABIO, ANDREA
openaire +3 more sources
[Neuroradiology of Kallmann's syndrome].
Acta medica portuguesa, 2001The present study refers to the magnetic resonance characteristics observed in a group of three patients with clinical and laboratory evidence of Kallmann's Syndrome. This disease, also named olfactogenital dysplasia, affects the normal gonadal and olfactory development and is clinically characterized by the association of hypogonadotrophic ...
F Martins +4 more
openaire +3 more sources
Chromosome abnormality in Kallmann syndrome
American Journal of Medical Genetics, 1990AbstractWe report on an individual with Kallman syndrome (KS) and a balanced de novo translocation (7;12)(q22,q24). None of 6 full sibs, 3 halfsibs, or parents have KS or this chromosome translocation. This is the only known report of KS with a chromosome abnormality.
Lyle G. Best +3 more
openaire +2 more sources
Kallmann’s Syndrome — Beyond “Migration”
New England Journal of Medicine, 1992THE analysis by Bick et al. in this issue of the Journal 1 closes the circle on a rapidly evolving set of discoveries that have implicated the function of a defined protein in neuronal migration. Specifically, these investigators have identified, as the common genetic mutation associated with Kallmann's syndrome in two brothers, a 3.3-kb deletion ...
openaire +3 more sources
Kallmann's syndrome: is it always for life?
Clinical Endocrinology, 1999OBJECTIVEKallmann's syndrome (KS) is defined by the association of olfactory deficit with irreversible, congenital gonadotrophin deficiency (IHH). We present evidence for the existence of a variant form of KS, in which endogenous gonadotrophin secretion recovers spontaneously in later life.DESIGNLongitudinal clinical study.PATIENTSFive men with anosmia
Wu, Frederick +5 more
openaire +5 more sources