نتایج جستجو برای: kallmann syndrome
تعداد نتایج: 621960 فیلتر نتایج به سال:
PURPOSE To evaluate patients with known hypogonadotropic hypogonadism, some with known anosmia, for defective rhinocephalon development that resulted in olfactory tract abnormalities, an affliction known as Kallmann syndrome. METHODS Six patients who clinically had hypogonadotropic hypogonadism were examined by MR. Thin coronal images of the interior frontal region were used to determine pres...
Missense mutations in TUBB3, the gene that encodes the neuronal-specific protein β-tubulin isotype 3, can cause isolated or syndromic congenital fibrosis of the extraocular muscles, a form of complex congenital strabismus characterized by cranial nerve misguidance. One of the eight TUBB3 mutations reported to cause congenital fibrosis of the extraocular muscles, c.1228G>A results in a TUBB3 E41...
Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method...
Kallmann syndrome (KS) is a neuronal migration disorder characterised by hypogonadotrophic hypogonadism and anosmia or hyposmia. Five patients with clinical findings suggestive of KS were evaluated with MRI. All patients had abnormalities of olfactory system. Olfactory bulbs were absent in all patients. Olfactory sulci were absent in 3 patients and hypoplastic in 2 patients. Anterior pituitary ...
Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency. Loss-of-function mutations in KAL1 and FGFR1 underlie the X chromosome-linked form and an autosomal dominant form of the disease, respectively. Mutations in these genes, however, only account for approximately 20% of all Kallmann syndrome case...
Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have been described as "contiguous gene syndromes." Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the dista...
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