| http://purl.uniprot.org/citations/18463157 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18463157 | http://www.w3.org/2000/01/rdf-schema#comment | "Idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are clinically and genetically heterogeneous disorders caused by a deficiency of gonadotrophin-releasing hormone (GnRH). Mutations in three genes--KAL1, GNRHR and FGFR1--account for 15-20% of all causes of IHH/KS. Nearly all mutations are point mutations identified by traditional PCR-based DNA sequencing. The relatively new method of multiplex ligation-dependent probe amplification (MLPA) has been successful for detecting intragenic deletions in other genetic diseases. We hypothesized that MLPA would detect intragenic deletions in approximately 15-20% of our cohort of IHH/KS patients. Fifty-four IHH/KS patients were studied for KAL1 deletions and 100 were studied for an autosomal panel of FGFR1, GNRH1, GNRHR, GPR54 and NELF gene deletions. Of all male and female subjects screened, 4/54 (7.4%) had KAL1 deletions. If only anosmic males were considered, 4/33 (12.1%) had KAL1 deletions. No deletions were identified in any of the autosomal genes in 100 IHH/KS patients. We believe this to be the first study to use MLPA to identify intragenic deletions in IHH/KS patients. Our results indicate approximately 12% of KS males have KAL1 deletions, but intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF genes are uncommon in IHH/KS."xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.org/dc/terms/identifier | "doi:10.1093/molehr/gan027"xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/author | "Bick D.P."xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/author | "Layman L.C."xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/author | "Sherins R.J."xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/author | "Chorich L.P."xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/author | "Pedersen-White J.R."xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/name | "Mol Hum Reprod"xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/pages | "367-370"xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/title | "The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://purl.uniprot.org/core/volume | "14"xsd:string |
| http://purl.uniprot.org/citations/18463157 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18463157 |
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