Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_assertion type Assertion NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_head.
- NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_assertion description "[The hormonal findings in the genotype-proven patients suggest that the following hormonal criteria are compatible with 3beta-HSD deficiency congenital adrenal hyperplasia (numeric and graphic reference standards from infancy to adulthood are provided): ACTH-stimulated Delta5-17P levels in 1) neonatal infants with ambiguous genitalia at or greater than 378 nmol/liter equivalent to or greater than 5.3 SD above the control mean level [95 +/- 53 (SD) nmol/liter]; 2) Tanner I children with ambiguous genitalia at or greater than 165 nmol/liter equivalent to or greater than 35 SD above the control mean level [12 +/- 4.3 (SD) nmol/liter]; 3) children with premature pubarche at or greater than 294 nmol/liter equivalent to or greater than 54 SD above Tanner II pubic hair stage matched control mean level [17 +/- 5 (SD) nmol/liter]; and 4) adults with at or greater than 289 nmol/liter equivalent to or greater than 21 SD above the normal mean level [25 +/- 12 (SD) nmol/liter].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_provenance.
- NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_assertion evidence source_evidence_literature NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_provenance.
- NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_assertion SIO_000772 12050224 NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_provenance.
- NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_assertion wasDerivedFrom befree-2016 NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_provenance.
- NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_assertion wasGeneratedBy ECO_0000203 NP357017.RAp2FU-iJk5NTd5R3EqWEpqAQsiNjBCD_tXW7cPFYzzFs130_provenance.