Matches in SemOpenAlex for { <https://semopenalex.org/work/W2984967964> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W2984967964 endingPage "2484" @default.
- W2984967964 startingPage "2481" @default.
- W2984967964 abstract "To present the first case proposing the use of preimplantation genetic testing for monogeneic disorders for Kallmann syndrome, providing comprehensive care in the genomic era of precision medicine.Gonadotropin therapy was used for spermatogenesis, followed by in vitro fertilization by intracytoplasmic sperm injection and embryo transfer. Cross-generational targeted next-generation sequencing was then done for genes known to cause Kallmann syndrome.A heterozygous mutation at codon 102 of the FGFR1 gene was found in the patient, but the father was found to have the same mutation yet is unaffected by Kallmann syndrome. Since no causative mutation was found, a de novo or sporadic mutation was suspected as the cause of Kallmann syndrome in this case.Comprehensive care must be available for male Kallmann syndrome patients, as treatment should not stop at spermatogenesis, but continue with genetic counseling due to possible inheritance." @default.
- W2984967964 created "2019-11-22" @default.
- W2984967964 creator A5002345532 @default.
- W2984967964 creator A5002950975 @default.
- W2984967964 creator A5028339621 @default.
- W2984967964 creator A5031743516 @default.
- W2984967964 date "2019-11-18" @default.
- W2984967964 modified "2023-09-24" @default.
- W2984967964 title "Live birth in male de novo Kallmann syndrome after cross-generational genetic sequencing" @default.
- W2984967964 cites W1969148536 @default.
- W2984967964 cites W2010595044 @default.
- W2984967964 cites W2054662586 @default.
- W2984967964 cites W2124656409 @default.
- W2984967964 cites W2178429948 @default.
- W2984967964 cites W2271733368 @default.
- W2984967964 cites W2506791143 @default.
- W2984967964 cites W2782770270 @default.
- W2984967964 cites W2783422125 @default.
- W2984967964 cites W2901294056 @default.
- W2984967964 cites W2913255582 @default.
- W2984967964 doi "https://doi.org/10.1007/s10815-019-01604-9" @default.
- W2984967964 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6911136" @default.
- W2984967964 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31741254" @default.
- W2984967964 hasPublicationYear "2019" @default.
- W2984967964 type Work @default.
- W2984967964 sameAs 2984967964 @default.
- W2984967964 citedByCount "2" @default.
- W2984967964 countsByYear W29849679642021 @default.
- W2984967964 countsByYear W29849679642022 @default.
- W2984967964 crossrefType "journal-article" @default.
- W2984967964 hasAuthorship W2984967964A5002345532 @default.
- W2984967964 hasAuthorship W2984967964A5002950975 @default.
- W2984967964 hasAuthorship W2984967964A5028339621 @default.
- W2984967964 hasAuthorship W2984967964A5031743516 @default.
- W2984967964 hasBestOaLocation W29849679641 @default.
- W2984967964 hasConcept C104317684 @default.
- W2984967964 hasConcept C126322002 @default.
- W2984967964 hasConcept C134018914 @default.
- W2984967964 hasConcept C196843134 @default.
- W2984967964 hasConcept C2777239080 @default.
- W2984967964 hasConcept C2778278907 @default.
- W2984967964 hasConcept C2779134260 @default.
- W2984967964 hasConcept C2780673598 @default.
- W2984967964 hasConcept C2781255401 @default.
- W2984967964 hasConcept C3008058167 @default.
- W2984967964 hasConcept C47042493 @default.
- W2984967964 hasConcept C501734568 @default.
- W2984967964 hasConcept C512716672 @default.
- W2984967964 hasConcept C524204448 @default.
- W2984967964 hasConcept C54355233 @default.
- W2984967964 hasConcept C71315377 @default.
- W2984967964 hasConcept C71924100 @default.
- W2984967964 hasConcept C86803240 @default.
- W2984967964 hasConceptScore W2984967964C104317684 @default.
- W2984967964 hasConceptScore W2984967964C126322002 @default.
- W2984967964 hasConceptScore W2984967964C134018914 @default.
- W2984967964 hasConceptScore W2984967964C196843134 @default.
- W2984967964 hasConceptScore W2984967964C2777239080 @default.
- W2984967964 hasConceptScore W2984967964C2778278907 @default.
- W2984967964 hasConceptScore W2984967964C2779134260 @default.
- W2984967964 hasConceptScore W2984967964C2780673598 @default.
- W2984967964 hasConceptScore W2984967964C2781255401 @default.
- W2984967964 hasConceptScore W2984967964C3008058167 @default.
- W2984967964 hasConceptScore W2984967964C47042493 @default.
- W2984967964 hasConceptScore W2984967964C501734568 @default.
- W2984967964 hasConceptScore W2984967964C512716672 @default.
- W2984967964 hasConceptScore W2984967964C524204448 @default.
- W2984967964 hasConceptScore W2984967964C54355233 @default.
- W2984967964 hasConceptScore W2984967964C71315377 @default.
- W2984967964 hasConceptScore W2984967964C71924100 @default.
- W2984967964 hasConceptScore W2984967964C86803240 @default.
- W2984967964 hasIssue "12" @default.
- W2984967964 hasLocation W29849679641 @default.
- W2984967964 hasLocation W29849679642 @default.
- W2984967964 hasLocation W29849679643 @default.
- W2984967964 hasOpenAccess W2984967964 @default.
- W2984967964 hasPrimaryLocation W29849679641 @default.
- W2984967964 hasRelatedWork W1974148029 @default.
- W2984967964 hasRelatedWork W1995776610 @default.
- W2984967964 hasRelatedWork W2023835522 @default.
- W2984967964 hasRelatedWork W2064667462 @default.
- W2984967964 hasRelatedWork W2122048062 @default.
- W2984967964 hasRelatedWork W2131241813 @default.
- W2984967964 hasRelatedWork W2145363038 @default.
- W2984967964 hasRelatedWork W2147702047 @default.
- W2984967964 hasRelatedWork W2162811903 @default.
- W2984967964 hasRelatedWork W2899369887 @default.
- W2984967964 hasVolume "36" @default.
- W2984967964 isParatext "false" @default.
- W2984967964 isRetracted "false" @default.
- W2984967964 magId "2984967964" @default.
- W2984967964 workType "article" @default.