FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2138431386> ?p ?o ?g. }

• W2138431386 endingPage "11" @default.
• W2138431386 startingPage "11e" @default.
• W2138431386 abstract "Height is the result of interactions of several factors including those of genetic origin. About 3% of people have short stature and in most of them the cause is unknown.1 Recently, the SHOX gene (short stature homeobox containing gene), mapped on the pseudoautosomal region (PAR1) of the X and Y chromosomes, has been specifically associated with the short stature of patients with Turner syndrome or with Leri-Weill dyschondrosteosis (LWD).2–7 Few data have been reported on the relationship between SHOX mutations and idiopathic short stature. Rao et al 2 reported one change among 91 patients with idiopathic short stature, and Binder et al 8 found a mutation in one out of 68 patients. The largest study was recently published by Rappold et al ,9 who found a frequency of 2.4% of SHOX mutations using fluorescence in situ hybridisation (FISH) on 150 patients and single strand conformational polymorphism analysis (SSCP) on 750 patients.We report a study carried out on 56 patients with short stature of unknown origin detecting SHOX mutations in seven (12.5%) by using FISH and direct sequencing analyses.### PatientsFifty-six patients, 33 females and 23 males, with a mean age of 12.2 years (range 5-18 years) entered this study. All patients were unrelated, coming from different regions of central and southern Italy. In order to exclude patients with dyschondrosteosis or other diseases associated with short stature, we used the following criteria: (1) height at or below the 3rd centile; (2) absence of obvious skeletal abnormalities on physical examination; (3) absence of other diseases on physical examination and routine analyses; (4) normal bone age; (5) normal hGH values using a polyclonal in house RIA (lower detection limit 0.1 ng/μl, mean intra-assay coefficient of variation 6.9%, and mean interassay coefficient 9.5%); and (6) normal karyotype in 16 metaphases …" @default.
• W2138431386 created "2016-06-24" @default.
• W2138431386 creator A5060591081 @default.
• W2138431386 date "2003-02-01" @default.
• W2138431386 modified "2023-09-30" @default.
• W2138431386 title "SHOX mutations detected by FISH and direct sequencing in patients with short stature" @default.
• W2138431386 cites W1545695267 @default.
• W2138431386 cites W1592417146 @default.
• W2138431386 cites W1884189226 @default.
• W2138431386 cites W1973460954 @default.
• W2138431386 cites W1978483169 @default.
• W2138431386 cites W1989904202 @default.
• W2138431386 cites W2004876851 @default.
• W2138431386 cites W2005759400 @default.
• W2138431386 cites W2005772358 @default.
• W2138431386 cites W2013246689 @default.
• W2138431386 cites W2013397153 @default.
• W2138431386 cites W2053295178 @default.
• W2138431386 cites W2062138583 @default.
• W2138431386 cites W2114556828 @default.
• W2138431386 cites W2119676362 @default.
• W2138431386 cites W2120189850 @default.
• W2138431386 cites W2134231018 @default.
• W2138431386 cites W2154179174 @default.
• W2138431386 cites W2155246478 @default.
• W2138431386 cites W2161597351 @default.
• W2138431386 cites W2166669288 @default.
• W2138431386 doi "https://doi.org/10.1136/jmg.40.2.e11" @default.
• W2138431386 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1735371" @default.
• W2138431386 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12566529" @default.
• W2138431386 hasPublicationYear "2003" @default.
• W2138431386 type Work @default.
• W2138431386 sameAs 2138431386 @default.
• W2138431386 citedByCount "49" @default.
• W2138431386 countsByYear W21384313862012 @default.
• W2138431386 countsByYear W21384313862013 @default.
• W2138431386 countsByYear W21384313862014 @default.
• W2138431386 countsByYear W21384313862015 @default.
• W2138431386 countsByYear W21384313862016 @default.
• W2138431386 countsByYear W21384313862017 @default.
• W2138431386 countsByYear W21384313862018 @default.
• W2138431386 countsByYear W21384313862019 @default.
• W2138431386 countsByYear W21384313862020 @default.
• W2138431386 countsByYear W21384313862021 @default.
• W2138431386 countsByYear W21384313862022 @default.
• W2138431386 countsByYear W21384313862023 @default.
• W2138431386 crossrefType "journal-article" @default.
• W2138431386 hasAuthorship W2138431386A5060591081 @default.
• W2138431386 hasBestOaLocation W21384313861 @default.
• W2138431386 hasConcept C104317684 @default.
• W2138431386 hasConcept C134018914 @default.
• W2138431386 hasConcept C2777871287 @default.
• W2138431386 hasConcept C2778754045 @default.
• W2138431386 hasConcept C2909208804 @default.
• W2138431386 hasConcept C2984496839 @default.
• W2138431386 hasConcept C501734568 @default.
• W2138431386 hasConcept C505870484 @default.
• W2138431386 hasConcept C54355233 @default.
• W2138431386 hasConcept C71315377 @default.
• W2138431386 hasConcept C86803240 @default.
• W2138431386 hasConceptScore W2138431386C104317684 @default.
• W2138431386 hasConceptScore W2138431386C134018914 @default.
• W2138431386 hasConceptScore W2138431386C2777871287 @default.
• W2138431386 hasConceptScore W2138431386C2778754045 @default.
• W2138431386 hasConceptScore W2138431386C2909208804 @default.
• W2138431386 hasConceptScore W2138431386C2984496839 @default.
• W2138431386 hasConceptScore W2138431386C501734568 @default.
• W2138431386 hasConceptScore W2138431386C505870484 @default.
• W2138431386 hasConceptScore W2138431386C54355233 @default.
• W2138431386 hasConceptScore W2138431386C71315377 @default.
• W2138431386 hasConceptScore W2138431386C86803240 @default.
• W2138431386 hasIssue "2" @default.
• W2138431386 hasLocation W21384313861 @default.
• W2138431386 hasLocation W21384313862 @default.
• W2138431386 hasLocation W21384313863 @default.
• W2138431386 hasLocation W21384313864 @default.
• W2138431386 hasOpenAccess W2138431386 @default.
• W2138431386 hasPrimaryLocation W21384313861 @default.
• W2138431386 hasRelatedWork W182731241 @default.
• W2138431386 hasRelatedWork W2008257976 @default.
• W2138431386 hasRelatedWork W2068843149 @default.
• W2138431386 hasRelatedWork W2083137480 @default.
• W2138431386 hasRelatedWork W2084358387 @default.
• W2138431386 hasRelatedWork W2368440347 @default.
• W2138431386 hasRelatedWork W2907652181 @default.
• W2138431386 hasRelatedWork W3024335473 @default.
• W2138431386 hasRelatedWork W3151319084 @default.
• W2138431386 hasRelatedWork W4242624062 @default.
• W2138431386 hasVolume "40" @default.
• W2138431386 isParatext "false" @default.
• W2138431386 isRetracted "false" @default.
• W2138431386 magId "2138431386" @default.
• W2138431386 workType "article" @default.