FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3146068531> ?p ?o ?g. }

• W3146068531 endingPage "226" @default.
• W3146068531 startingPage "218" @default.
• W3146068531 abstract "Idiopathic (isolated) hypogonadotropic hypogonadism (IHH) is a rare disease that can be classified as Kallmann syndrome (KS) or normosmic IHH (nIHH). This study investigated the phenotype and genotype of IHH in Taiwanese patients.Twenty-six unrelated IHH patients were included in this study and their clinical, hormonal, and radiological findings were analyzed retrospectively. Whole exome sequencing (WES) was performed to identify the etiology.The 26 patients (M:F = 19:7) were divided into a KS group (n = 11) and a nIHH group (n = 15). The diagnosis was earlier in boys than in girls. Fifteen patients were found to have pathogenic/likely pathogenic (P/LP) variants of IHH-associated genes, and the mutation detection rate was 58%. CHD7, FGFR1, and ANOS1 were the most common genetic etiologies identified in this group. Two patients with nIHH were found to have de novo SOX11 mutations and Coffin-Siris syndrome features. After treatment, the height outcomes and secondary sexual characteristics were significantly improved. There were no obvious differences between the genetically resolved (GR), variants of uncertain significance (VUS) and genetically unresolved groups (GUR).Whole exome sequencing is useful in patients with IHH, and we identified the SOX11 gene as a causal factor in this study. We described the clinical, hormonal, and molecular characteristics, and the treatment outcomes, of Taiwanese patients with IHH, which should aid therapeutic planning and further research." @default.
• W3146068531 created "2021-04-13" @default.
• W3146068531 creator A5001919021 @default.
• W3146068531 creator A5019512316 @default.
• W3146068531 creator A5020670376 @default.
• W3146068531 creator A5033027569 @default.
• W3146068531 creator A5035688680 @default.
• W3146068531 creator A5036816247 @default.
• W3146068531 creator A5042628573 @default.
• W3146068531 creator A5046826963 @default.
• W3146068531 creator A5084941084 @default.
• W3146068531 date "2022-01-01" @default.
• W3146068531 modified "2023-10-14" @default.
• W3146068531 title "Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience" @default.
• W3146068531 cites W1984068087 @default.
• W3146068531 cites W2003282533 @default.
• W3146068531 cites W2008386530 @default.
• W3146068531 cites W2022958390 @default.
• W3146068531 cites W2028933917 @default.
• W3146068531 cites W2032218533 @default.
• W3146068531 cites W2051108558 @default.
• W3146068531 cites W2051978340 @default.
• W3146068531 cites W2061867414 @default.
• W3146068531 cites W2068053473 @default.
• W3146068531 cites W2079455457 @default.
• W3146068531 cites W2079932753 @default.
• W3146068531 cites W2098762562 @default.
• W3146068531 cites W2119180969 @default.
• W3146068531 cites W2119848173 @default.
• W3146068531 cites W2121966708 @default.
• W3146068531 cites W2128132129 @default.
• W3146068531 cites W2135723469 @default.
• W3146068531 cites W2158061036 @default.
• W3146068531 cites W2177646230 @default.
• W3146068531 cites W2178429948 @default.
• W3146068531 cites W2266021520 @default.
• W3146068531 cites W2506791143 @default.
• W3146068531 cites W2745533044 @default.
• W3146068531 cites W2768928875 @default.
• W3146068531 cites W2885238934 @default.
• W3146068531 cites W2913042965 @default.
• W3146068531 cites W3013500571 @default.
• W3146068531 doi "https://doi.org/10.1016/j.jfma.2021.03.010" @default.
• W3146068531 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33775534" @default.
• W3146068531 hasPublicationYear "2022" @default.
• W3146068531 type Work @default.
• W3146068531 sameAs 3146068531 @default.
• W3146068531 citedByCount "7" @default.
• W3146068531 countsByYear W31460685312022 @default.
• W3146068531 countsByYear W31460685312023 @default.
• W3146068531 crossrefType "journal-article" @default.
• W3146068531 hasAuthorship W3146068531A5001919021 @default.
• W3146068531 hasAuthorship W3146068531A5019512316 @default.
• W3146068531 hasAuthorship W3146068531A5020670376 @default.
• W3146068531 hasAuthorship W3146068531A5033027569 @default.
• W3146068531 hasAuthorship W3146068531A5035688680 @default.
• W3146068531 hasAuthorship W3146068531A5036816247 @default.
• W3146068531 hasAuthorship W3146068531A5042628573 @default.
• W3146068531 hasAuthorship W3146068531A5046826963 @default.
• W3146068531 hasAuthorship W3146068531A5084941084 @default.
• W3146068531 hasBestOaLocation W31460685311 @default.
• W3146068531 hasConcept C104317684 @default.
• W3146068531 hasConcept C126322002 @default.
• W3146068531 hasConcept C137627325 @default.
• W3146068531 hasConcept C16671776 @default.
• W3146068531 hasConcept C2777239080 @default.
• W3146068531 hasConcept C2779134260 @default.
• W3146068531 hasConcept C2781255401 @default.
• W3146068531 hasConcept C3008058167 @default.
• W3146068531 hasConcept C501734568 @default.
• W3146068531 hasConcept C524204448 @default.
• W3146068531 hasConcept C54355233 @default.
• W3146068531 hasConcept C60644358 @default.
• W3146068531 hasConcept C71315377 @default.
• W3146068531 hasConcept C71924100 @default.
• W3146068531 hasConcept C77018033 @default.
• W3146068531 hasConcept C86803240 @default.
• W3146068531 hasConceptScore W3146068531C104317684 @default.
• W3146068531 hasConceptScore W3146068531C126322002 @default.
• W3146068531 hasConceptScore W3146068531C137627325 @default.
• W3146068531 hasConceptScore W3146068531C16671776 @default.
• W3146068531 hasConceptScore W3146068531C2777239080 @default.
• W3146068531 hasConceptScore W3146068531C2779134260 @default.
• W3146068531 hasConceptScore W3146068531C2781255401 @default.
• W3146068531 hasConceptScore W3146068531C3008058167 @default.
• W3146068531 hasConceptScore W3146068531C501734568 @default.
• W3146068531 hasConceptScore W3146068531C524204448 @default.
• W3146068531 hasConceptScore W3146068531C54355233 @default.
• W3146068531 hasConceptScore W3146068531C60644358 @default.
• W3146068531 hasConceptScore W3146068531C71315377 @default.
• W3146068531 hasConceptScore W3146068531C71924100 @default.
• W3146068531 hasConceptScore W3146068531C77018033 @default.
• W3146068531 hasConceptScore W3146068531C86803240 @default.
• W3146068531 hasFunder F4320323422 @default.
• W3146068531 hasIssue "1" @default.
• W3146068531 hasLocation W31460685311 @default.
• W3146068531 hasLocation W31460685312 @default.
• W3146068531 hasLocation W31460685313 @default.

• next