FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2004713047> ?p ?o ?g. }

• W2004713047 endingPage "404" @default.
• W2004713047 startingPage "400" @default.
• W2004713047 abstract "Idiopathic short stature (ISS) refers to a heterogeneous group of children with marked growth failure of unknown cause, and encompasses familial short stature and constitutional delay of growth. It has been postulated that specific genetic mutations may explain certain cases of growth failure. Some patients with growth hormone (GH) deficiency have mutations in the GH-releasing hormone receptor or GH gene, whereas patients with GH insensitivity syndrome have mutations in the GH receptor or insulin-like growth factor-I gene. It appears that heterozygous mutations of the GH receptor may cause partial GH insensitivity in a subset of patients with ISS. Defects in the short stature homeobox-containing gene (SHOX) in the pseudoautosomal region of the sex chromosomes may cause the growth failure seen in the Leri-Weill and Turner syndromes, and in some familial cases of ISS. Further research into stature-related genes will likely contribute to our understanding of this population." @default.
• W2004713047 created "2016-06-24" @default.
• W2004713047 creator A5051400084 @default.
• W2004713047 date "2000-08-01" @default.
• W2004713047 modified "2023-10-18" @default.
• W2004713047 title "Genetic studies in idiopathic short stature" @default.
• W2004713047 cites W1966160248 @default.
• W2004713047 cites W1972213198 @default.
• W2004713047 cites W1972359674 @default.
• W2004713047 cites W1974261467 @default.
• W2004713047 cites W1979174816 @default.
• W2004713047 cites W1979311725 @default.
• W2004713047 cites W1996757852 @default.
• W2004713047 cites W2003685705 @default.
• W2004713047 cites W2004876851 @default.
• W2004713047 cites W2005759400 @default.
• W2004713047 cites W2011169949 @default.
• W2004713047 cites W2025864476 @default.
• W2004713047 cites W2032821703 @default.
• W2004713047 cites W2040932480 @default.
• W2004713047 cites W2083137480 @default.
• W2004713047 cites W2089728262 @default.
• W2004713047 cites W2093833869 @default.
• W2004713047 cites W2095462885 @default.
• W2004713047 cites W2114556828 @default.
• W2004713047 cites W2166669288 @default.
• W2004713047 cites W2312648445 @default.
• W2004713047 cites W2312763514 @default.
• W2004713047 cites W2320296534 @default.
• W2004713047 cites W2340201678 @default.
• W2004713047 cites W4231238495 @default.
• W2004713047 cites W4236423012 @default.
• W2004713047 cites W4238751741 @default.
• W2004713047 cites W4238777291 @default.
• W2004713047 cites W4244122457 @default.
• W2004713047 cites W4251777018 @default.
• W2004713047 cites W4253443586 @default.
• W2004713047 cites W4253624222 @default.
• W2004713047 cites W4255416360 @default.
• W2004713047 doi "https://doi.org/10.1097/00008480-200008000-00021" @default.
• W2004713047 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10943824" @default.
• W2004713047 hasPublicationYear "2000" @default.
• W2004713047 type Work @default.
• W2004713047 sameAs 2004713047 @default.
• W2004713047 citedByCount "32" @default.
• W2004713047 countsByYear W20047130472014 @default.
• W2004713047 countsByYear W20047130472015 @default.
• W2004713047 countsByYear W20047130472016 @default.
• W2004713047 countsByYear W20047130472017 @default.
• W2004713047 countsByYear W20047130472020 @default.
• W2004713047 crossrefType "journal-article" @default.
• W2004713047 hasAuthorship W2004713047A5051400084 @default.
• W2004713047 hasConcept C104317684 @default.
• W2004713047 hasConcept C126322002 @default.
• W2004713047 hasConcept C134018914 @default.
• W2004713047 hasConcept C169836425 @default.
• W2004713047 hasConcept C2777871287 @default.
• W2004713047 hasConcept C2778111144 @default.
• W2004713047 hasConcept C2778754045 @default.
• W2004713047 hasConcept C2779683239 @default.
• W2004713047 hasConcept C2779952775 @default.
• W2004713047 hasConcept C2908647359 @default.
• W2004713047 hasConcept C2984496839 @default.
• W2004713047 hasConcept C35158069 @default.
• W2004713047 hasConcept C501734568 @default.
• W2004713047 hasConcept C54355233 @default.
• W2004713047 hasConcept C71315377 @default.
• W2004713047 hasConcept C71924100 @default.
• W2004713047 hasConcept C86803240 @default.
• W2004713047 hasConcept C99454951 @default.
• W2004713047 hasConceptScore W2004713047C104317684 @default.
• W2004713047 hasConceptScore W2004713047C126322002 @default.
• W2004713047 hasConceptScore W2004713047C134018914 @default.
• W2004713047 hasConceptScore W2004713047C169836425 @default.
• W2004713047 hasConceptScore W2004713047C2777871287 @default.
• W2004713047 hasConceptScore W2004713047C2778111144 @default.
• W2004713047 hasConceptScore W2004713047C2778754045 @default.
• W2004713047 hasConceptScore W2004713047C2779683239 @default.
• W2004713047 hasConceptScore W2004713047C2779952775 @default.
• W2004713047 hasConceptScore W2004713047C2908647359 @default.
• W2004713047 hasConceptScore W2004713047C2984496839 @default.
• W2004713047 hasConceptScore W2004713047C35158069 @default.
• W2004713047 hasConceptScore W2004713047C501734568 @default.
• W2004713047 hasConceptScore W2004713047C54355233 @default.
• W2004713047 hasConceptScore W2004713047C71315377 @default.
• W2004713047 hasConceptScore W2004713047C71924100 @default.
• W2004713047 hasConceptScore W2004713047C86803240 @default.
• W2004713047 hasConceptScore W2004713047C99454951 @default.
• W2004713047 hasIssue "4" @default.
• W2004713047 hasLocation W20047130471 @default.
• W2004713047 hasLocation W20047130472 @default.
• W2004713047 hasOpenAccess W2004713047 @default.
• W2004713047 hasPrimaryLocation W20047130471 @default.
• W2004713047 hasRelatedWork W1539044438 @default.
• W2004713047 hasRelatedWork W157605136 @default.
• W2004713047 hasRelatedWork W1982197179 @default.
• W2004713047 hasRelatedWork W2004713047 @default.
• W2004713047 hasRelatedWork W2009766761 @default.

• next