FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000749280> ?p ?o ?g. }

• W2000749280 endingPage "303" @default.
• W2000749280 startingPage "300" @default.
• W2000749280 abstract "Early menopause in the fragile X carriers has been well documented in several reports. All surveys demonstrated that 13-25% of fragile X carriers experienced premature ovarian failure (POF), defined as menopause before the age of 40 years. In 1995 we started screening two groups of subjects as a part of a Fragile X Research Program: 1) women previously diagnosed as fragile X carriers from the register of our center and 2) women with POF and without a family history of fragile X or other forms of mental retardation. In this study we report the preliminary data collected from 75 fragile X families; in 30 of them, POF was present in one or several subjects, all of whom had a fragile X premutation. None of the women with a full mutation experienced POF in our series of patients. We also identified 89 families without a family history of fragile X or mental retardation, and there were 108 subjects who experienced POF, of which 6.5% had a fragile X premutation. This is 70-fold higher than the background prevalence of fragile X premutation in the Italian population and suggests an association with POF. These data confirm the results of other surveys." @default.
• W2000749280 created "2016-06-24" @default.
• W2000749280 creator A5003590239 @default.
• W2000749280 creator A5010727126 @default.
• W2000749280 creator A5024753747 @default.
• W2000749280 creator A5041102040 @default.
• W2000749280 creator A5042995381 @default.
• W2000749280 creator A5043153543 @default.
• W2000749280 creator A5056876733 @default.
• W2000749280 creator A5057187880 @default.
• W2000749280 creator A5064483569 @default.
• W2000749280 creator A5075130411 @default.
• W2000749280 creator A5082796888 @default.
• W2000749280 creator A5082814411 @default.
• W2000749280 date "1999-05-28" @default.
• W2000749280 modified "2023-09-27" @default.
• W2000749280 title "Premature ovarian failure (POF) and fragile X premutation females: From POF to fragile X carrier identification, from fragile X carrier diagnosis to POF association data" @default.
• W2000749280 cites W1541230922 @default.
• W2000749280 cites W1970959170 @default.
• W2000749280 cites W1987718203 @default.
• W2000749280 cites W1991510939 @default.
• W2000749280 cites W2002986541 @default.
• W2000749280 cites W2009545791 @default.
• W2000749280 cites W2015853963 @default.
• W2000749280 cites W2016724543 @default.
• W2000749280 cites W2023648173 @default.
• W2000749280 cites W2035470829 @default.
• W2000749280 cites W2046402737 @default.
• W2000749280 cites W2092479476 @default.
• W2000749280 cites W2093461124 @default.
• W2000749280 cites W2118094114 @default.
• W2000749280 cites W2119061601 @default.
• W2000749280 cites W2320333627 @default.
• W2000749280 doi "https://doi.org/10.1002/(sici)1096-8628(19990528)84:3<300::aid-ajmg27>3.0.co;2-5" @default.
• W2000749280 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10331612" @default.
• W2000749280 hasPublicationYear "1999" @default.
• W2000749280 type Work @default.
• W2000749280 sameAs 2000749280 @default.
• W2000749280 citedByCount "78" @default.
• W2000749280 countsByYear W20007492802012 @default.
• W2000749280 countsByYear W20007492802014 @default.
• W2000749280 countsByYear W20007492802015 @default.
• W2000749280 countsByYear W20007492802016 @default.
• W2000749280 countsByYear W20007492802017 @default.
• W2000749280 countsByYear W20007492802019 @default.
• W2000749280 countsByYear W20007492802020 @default.
• W2000749280 countsByYear W20007492802021 @default.
• W2000749280 crossrefType "journal-article" @default.
• W2000749280 hasAuthorship W2000749280A5003590239 @default.
• W2000749280 hasAuthorship W2000749280A5010727126 @default.
• W2000749280 hasAuthorship W2000749280A5024753747 @default.
• W2000749280 hasAuthorship W2000749280A5041102040 @default.
• W2000749280 hasAuthorship W2000749280A5042995381 @default.
• W2000749280 hasAuthorship W2000749280A5043153543 @default.
• W2000749280 hasAuthorship W2000749280A5056876733 @default.
• W2000749280 hasAuthorship W2000749280A5057187880 @default.
• W2000749280 hasAuthorship W2000749280A5064483569 @default.
• W2000749280 hasAuthorship W2000749280A5075130411 @default.
• W2000749280 hasAuthorship W2000749280A5082796888 @default.
• W2000749280 hasAuthorship W2000749280A5082814411 @default.
• W2000749280 hasConcept C104317684 @default.
• W2000749280 hasConcept C126322002 @default.
• W2000749280 hasConcept C2777395788 @default.
• W2000749280 hasConcept C2777630245 @default.
• W2000749280 hasConcept C2778562196 @default.
• W2000749280 hasConcept C2779063550 @default.
• W2000749280 hasConcept C2908647359 @default.
• W2000749280 hasConcept C2908933131 @default.
• W2000749280 hasConcept C3020422209 @default.
• W2000749280 hasConcept C30481170 @default.
• W2000749280 hasConcept C54355233 @default.
• W2000749280 hasConcept C60449816 @default.
• W2000749280 hasConcept C71924100 @default.
• W2000749280 hasConcept C86803240 @default.
• W2000749280 hasConcept C99454951 @default.
• W2000749280 hasConceptScore W2000749280C104317684 @default.
• W2000749280 hasConceptScore W2000749280C126322002 @default.
• W2000749280 hasConceptScore W2000749280C2777395788 @default.
• W2000749280 hasConceptScore W2000749280C2777630245 @default.
• W2000749280 hasConceptScore W2000749280C2778562196 @default.
• W2000749280 hasConceptScore W2000749280C2779063550 @default.
• W2000749280 hasConceptScore W2000749280C2908647359 @default.
• W2000749280 hasConceptScore W2000749280C2908933131 @default.
• W2000749280 hasConceptScore W2000749280C3020422209 @default.
• W2000749280 hasConceptScore W2000749280C30481170 @default.
• W2000749280 hasConceptScore W2000749280C54355233 @default.
• W2000749280 hasConceptScore W2000749280C60449816 @default.
• W2000749280 hasConceptScore W2000749280C71924100 @default.
• W2000749280 hasConceptScore W2000749280C86803240 @default.
• W2000749280 hasConceptScore W2000749280C99454951 @default.
• W2000749280 hasIssue "3" @default.
• W2000749280 hasLocation W20007492801 @default.
• W2000749280 hasLocation W20007492802 @default.
• W2000749280 hasOpenAccess W2000749280 @default.
• W2000749280 hasPrimaryLocation W20007492801 @default.
• W2000749280 hasRelatedWork W1970959170 @default.
• W2000749280 hasRelatedWork W2000749280 @default.
• W2000749280 hasRelatedWork W2002758787 @default.

• next