FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016083325> ?p ?o ?g. }

• W2016083325 endingPage "43" @default.
• W2016083325 startingPage "37" @default.
• W2016083325 abstract "Abstract 46,XY gonadal dysgenesis is characterized by abnormal testicular determination. We describe a large kindred in which various disorders of sexual development were observed, ranging from completely female phenotype without ambiguities of the external genitalia (five cases) to men with isolated penile or perineal hypospadias (four cases), including two cases with moderate virilization and one case with ambiguity of the external genitalia. Histologic examination of gonadal tissue was performed on seven subjects. These findings were suggestive of complete gonadal dysgenesis in one patient, partial gonadal dysgenesis in three patients, and mixed gonadal dysgenesis in three patients. Four patients developed gonadal tumors (two gonadoblastoma, two dysgerminoma, and one immature teratoma, i.e., one patient had a dysgerminoma with some areas of gonadoblastoma). All affected subjects had no other congenital anomalies or dysmorphic features. Analysis of families with several affected individuals with 46,XY gonadal dysgenesis implied an X‐linked mode of inheritance because of the apparent absence of male‐to‐male transmission. However, a sex‐limited autosomal dominant mode of inheritance affecting only XY individuals could not be ruled out. Analysis of the pedigree we report indicated an autosomal dominant mode of inheritance because of male‐to‐male transmission. This kindred supports the involvement of at least one autosomal gene in non‐syndromic 46,XY gonadal dysgenesis. © 2002 Wiley‐Liss, Inc." @default.
• W2016083325 created "2016-06-24" @default.
• W2016083325 creator A5015622625 @default.
• W2016083325 creator A5032746869 @default.
• W2016083325 creator A5040572545 @default.
• W2016083325 creator A5046902524 @default.
• W2016083325 creator A5061924940 @default.
• W2016083325 creator A5087647851 @default.
• W2016083325 creator A5087779516 @default.
• W2016083325 date "2002-09-12" @default.
• W2016083325 modified "2023-10-14" @default.
• W2016083325 title "46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred" @default.
• W2016083325 cites W1541395198 @default.
• W2016083325 cites W1601380729 @default.
• W2016083325 cites W1718434217 @default.
• W2016083325 cites W1972037723 @default.
• W2016083325 cites W1973295687 @default.
• W2016083325 cites W1984361510 @default.
• W2016083325 cites W1985664235 @default.
• W2016083325 cites W2003925979 @default.
• W2016083325 cites W2013246689 @default.
• W2016083325 cites W2019996598 @default.
• W2016083325 cites W2022839034 @default.
• W2016083325 cites W2030155198 @default.
• W2016083325 cites W2030552050 @default.
• W2016083325 cites W2037855769 @default.
• W2016083325 cites W2039508988 @default.
• W2016083325 cites W2040833865 @default.
• W2016083325 cites W2047807274 @default.
• W2016083325 cites W2063635393 @default.
• W2016083325 cites W2074553329 @default.
• W2016083325 cites W2078407320 @default.
• W2016083325 cites W2089515479 @default.
• W2016083325 cites W2092762918 @default.
• W2016083325 cites W2098982430 @default.
• W2016083325 cites W2114029582 @default.
• W2016083325 cites W2115472256 @default.
• W2016083325 cites W2144032971 @default.
• W2016083325 cites W2148069086 @default.
• W2016083325 cites W2159695835 @default.
• W2016083325 cites W2324710644 @default.
• W2016083325 cites W2333383680 @default.
• W2016083325 cites W4205761727 @default.
• W2016083325 cites W4246920589 @default.
• W2016083325 cites W4379370535 @default.
• W2016083325 doi "https://doi.org/10.1002/ajmg.a.10820" @default.
• W2016083325 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12476449" @default.
• W2016083325 hasPublicationYear "2002" @default.
• W2016083325 type Work @default.
• W2016083325 sameAs 2016083325 @default.
• W2016083325 citedByCount "30" @default.
• W2016083325 countsByYear W20160833252012 @default.
• W2016083325 countsByYear W20160833252014 @default.
• W2016083325 countsByYear W20160833252015 @default.
• W2016083325 countsByYear W20160833252016 @default.
• W2016083325 countsByYear W20160833252019 @default.
• W2016083325 countsByYear W20160833252020 @default.
• W2016083325 countsByYear W20160833252021 @default.
• W2016083325 countsByYear W20160833252022 @default.
• W2016083325 crossrefType "journal-article" @default.
• W2016083325 hasAuthorship W2016083325A5015622625 @default.
• W2016083325 hasAuthorship W2016083325A5032746869 @default.
• W2016083325 hasAuthorship W2016083325A5040572545 @default.
• W2016083325 hasAuthorship W2016083325A5046902524 @default.
• W2016083325 hasAuthorship W2016083325A5061924940 @default.
• W2016083325 hasAuthorship W2016083325A5087647851 @default.
• W2016083325 hasAuthorship W2016083325A5087779516 @default.
• W2016083325 hasConcept C104317684 @default.
• W2016083325 hasConcept C126322002 @default.
• W2016083325 hasConcept C134018914 @default.
• W2016083325 hasConcept C2776252090 @default.
• W2016083325 hasConcept C2776631543 @default.
• W2016083325 hasConcept C2777911890 @default.
• W2016083325 hasConcept C2777990738 @default.
• W2016083325 hasConcept C2778324535 @default.
• W2016083325 hasConcept C2778324911 @default.
• W2016083325 hasConcept C2779272188 @default.
• W2016083325 hasConcept C2779812711 @default.
• W2016083325 hasConcept C2781471917 @default.
• W2016083325 hasConcept C30481170 @default.
• W2016083325 hasConcept C53226629 @default.
• W2016083325 hasConcept C54355233 @default.
• W2016083325 hasConcept C71315377 @default.
• W2016083325 hasConcept C71924100 @default.
• W2016083325 hasConcept C86803240 @default.
• W2016083325 hasConceptScore W2016083325C104317684 @default.
• W2016083325 hasConceptScore W2016083325C126322002 @default.
• W2016083325 hasConceptScore W2016083325C134018914 @default.
• W2016083325 hasConceptScore W2016083325C2776252090 @default.
• W2016083325 hasConceptScore W2016083325C2776631543 @default.
• W2016083325 hasConceptScore W2016083325C2777911890 @default.
• W2016083325 hasConceptScore W2016083325C2777990738 @default.
• W2016083325 hasConceptScore W2016083325C2778324535 @default.
• W2016083325 hasConceptScore W2016083325C2778324911 @default.
• W2016083325 hasConceptScore W2016083325C2779272188 @default.
• W2016083325 hasConceptScore W2016083325C2779812711 @default.
• W2016083325 hasConceptScore W2016083325C2781471917 @default.
• W2016083325 hasConceptScore W2016083325C30481170 @default.

• next