Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_assertion> ?p ?o ?g. }
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- NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_assertion type Assertion NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_head.
- NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_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." NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_provenance.
- NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_assertion evidence source_evidence_literature NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_provenance.
- NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_assertion SIO_000772 12050224 NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_provenance.
- NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_assertion wasDerivedFrom befree-20150227 NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_provenance.
- NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_assertion wasGeneratedBy ECO_0000203 NP634267.RAqz-nQ4y5mp6wUSj449KV4OTSgDGNua7aV9BAk3t_9tU130_provenance.