FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2155019056> ?p ?o ?g. }

• W2155019056 endingPage "186" @default.
• W2155019056 startingPage "180" @default.
• W2155019056 abstract "In most studies, the autosomal dominant (type II) form of isolated growth hormone deficiency (IGHD) has been more frequent than the autosomal recessive (type I) form. Our aim was to assess defects in the GH1 in short Brazilian children with different GH secretion status.We selected 135 children with postnatal short stature and classified according to the highest GH peak at stimulation tests in: severe IGHD (peak GH≤3.3 μg/L, n=38, all with normal pituitary magnetic resonance imaging); GH peak between 3.3 and 10 μg/L (n=76); and GH peak >10 μg/L (n=21). The entire coding region of GH1 was sequenced and complete GH1 deletions were assessed by Multiplex Ligation Dependent Probe Amplification and restriction enzyme digestion.Patients with severe IGHD had a higher frequency of consanguinity, were shorter, had lower levels of IGF-1 and IGFBP-3, and despite treatment with lower GH doses had a greater growth response than patients with GH peak ≥3.3 μg/L. Mutations were found only in patients with severe IGHD (GH peak<3.3 μg/L). Eight patients had autosomal recessive IGHD: Seven patients were homozygous for GH1 deletions and one patient was compound heterozygous for a GH1 deletion and the novel c.171+5G>C point mutation in intron 2, predicted to abolish the donor splice site. Only one patient, who was heterozygous for the c.291+1G>T mutation located at the universal donor splice site of intron 3 and predicts exon 3 skipping, had an autosomal dominant form.Analysis of GH1 in a cohort of Brazilian patients revealed that the autosomal recessive form of IGHD was more common than the dominant one, and both were found only in severe IGHD." @default.
• W2155019056 created "2016-06-24" @default.
• W2155019056 creator A5000888722 @default.
• W2155019056 creator A5000975071 @default.
• W2155019056 creator A5018582789 @default.
• W2155019056 creator A5021341622 @default.
• W2155019056 creator A5031653785 @default.
• W2155019056 creator A5048394640 @default.
• W2155019056 creator A5056408960 @default.
• W2155019056 creator A5067343242 @default.
• W2155019056 creator A5070035952 @default.
• W2155019056 creator A5072757519 @default.
• W2155019056 date "2014-10-01" @default.
• W2155019056 modified "2023-09-26" @default.
• W2155019056 title "Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort" @default.
• W2155019056 cites W1545354150 @default.
• W2155019056 cites W1985662670 @default.
• W2155019056 cites W1989831107 @default.
• W2155019056 cites W1991895816 @default.
• W2155019056 cites W1995268922 @default.
• W2155019056 cites W2009261694 @default.
• W2155019056 cites W2014559917 @default.
• W2155019056 cites W2016052920 @default.
• W2155019056 cites W2036268835 @default.
• W2155019056 cites W2045732936 @default.
• W2155019056 cites W2046742890 @default.
• W2155019056 cites W2060278682 @default.
• W2155019056 cites W2063142636 @default.
• W2155019056 cites W2067090328 @default.
• W2155019056 cites W2068268865 @default.
• W2155019056 cites W2073508760 @default.
• W2155019056 cites W2075509369 @default.
• W2155019056 cites W2076357933 @default.
• W2155019056 cites W2083150256 @default.
• W2155019056 cites W2088581863 @default.
• W2155019056 cites W2092774801 @default.
• W2155019056 cites W2107226581 @default.
• W2155019056 cites W2130763976 @default.
• W2155019056 cites W2138641434 @default.
• W2155019056 cites W2142540390 @default.
• W2155019056 cites W2144885757 @default.
• W2155019056 cites W2145730828 @default.
• W2155019056 cites W2145860140 @default.
• W2155019056 cites W2149481067 @default.
• W2155019056 cites W2156772763 @default.
• W2155019056 cites W2158600178 @default.
• W2155019056 cites W2322633283 @default.
• W2155019056 cites W2331215294 @default.
• W2155019056 cites W2483891037 @default.
• W2155019056 doi "https://doi.org/10.1016/j.ghir.2014.07.001" @default.
• W2155019056 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25116472" @default.
• W2155019056 hasPublicationYear "2014" @default.
• W2155019056 type Work @default.
• W2155019056 sameAs 2155019056 @default.
• W2155019056 citedByCount "3" @default.
• W2155019056 countsByYear W21550190562016 @default.
• W2155019056 countsByYear W21550190562020 @default.
• W2155019056 countsByYear W21550190562022 @default.
• W2155019056 crossrefType "journal-article" @default.
• W2155019056 hasAuthorship W2155019056A5000888722 @default.
• W2155019056 hasAuthorship W2155019056A5000975071 @default.
• W2155019056 hasAuthorship W2155019056A5018582789 @default.
• W2155019056 hasAuthorship W2155019056A5021341622 @default.
• W2155019056 hasAuthorship W2155019056A5031653785 @default.
• W2155019056 hasAuthorship W2155019056A5048394640 @default.
• W2155019056 hasAuthorship W2155019056A5056408960 @default.
• W2155019056 hasAuthorship W2155019056A5067343242 @default.
• W2155019056 hasAuthorship W2155019056A5070035952 @default.
• W2155019056 hasAuthorship W2155019056A5072757519 @default.
• W2155019056 hasConcept C104317684 @default.
• W2155019056 hasConcept C120599132 @default.
• W2155019056 hasConcept C12125453 @default.
• W2155019056 hasConcept C126322002 @default.
• W2155019056 hasConcept C134018914 @default.
• W2155019056 hasConcept C2777871287 @default.
• W2155019056 hasConcept C2779430528 @default.
• W2155019056 hasConcept C2779923321 @default.
• W2155019056 hasConcept C2779952775 @default.
• W2155019056 hasConcept C2984496839 @default.
• W2155019056 hasConcept C36823959 @default.
• W2155019056 hasConcept C501734568 @default.
• W2155019056 hasConcept C54355233 @default.
• W2155019056 hasConcept C71315377 @default.
• W2155019056 hasConcept C71924100 @default.
• W2155019056 hasConcept C86803240 @default.
• W2155019056 hasConcept C94671646 @default.
• W2155019056 hasConceptScore W2155019056C104317684 @default.
• W2155019056 hasConceptScore W2155019056C120599132 @default.
• W2155019056 hasConceptScore W2155019056C12125453 @default.
• W2155019056 hasConceptScore W2155019056C126322002 @default.
• W2155019056 hasConceptScore W2155019056C134018914 @default.
• W2155019056 hasConceptScore W2155019056C2777871287 @default.
• W2155019056 hasConceptScore W2155019056C2779430528 @default.
• W2155019056 hasConceptScore W2155019056C2779923321 @default.
• W2155019056 hasConceptScore W2155019056C2779952775 @default.
• W2155019056 hasConceptScore W2155019056C2984496839 @default.
• W2155019056 hasConceptScore W2155019056C36823959 @default.
• W2155019056 hasConceptScore W2155019056C501734568 @default.

• next