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ey0015.7-5 | Genetic variants and timing of puberty | ESPEYB15

7.5 Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

FR Day , DJ Thompson , H Helgason , DI Chasman , H Finucane , P Sulem

To read the full abstract: Nat Genet. 2017 Jun;49(6):834-841See comment on 7.6...

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ey0019.15-9 | Assorted Conditions | ESPEYB19

15.9. Genetic insights into biological mechanisms governing human ovarian ageing

KS Ruth , FR Day , J Hussain , A Martinez-Marchal , CE Aiken , A Azad , DJ Thompson , et al.

Nature. 2021;596(7872):393-7. doi: 10.1038/s41586-021-03779-7.PubMed ID: 34349265Brief summary: This study analysed genome-wide association array (GWAS) data on ~200 000 women of European ancestry to identify 290 separate genetic signals associated with normal variation in age at natural menopause (ANM). Experimental alterations of key identified genes in mouse models confirmed their impac...

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ey0017.7-13 | Basic Science | ESPEYB17

7.13. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

B Hollis , FR Day , AS Busch , DJ Thompson , ALG Soares , PRHJ Timmers , A Kwong , DF Easton , PK Joshi , NJ; PRACTICAL Consortium; 23andMe Research Team Timpson , KK Ong , JRB Perry

To read the full abstract: Nature communications vol. 11,1 1536. 24 Mar. 2020. doi: https://www.nature.com/articles/s41467-020-14451-5This multi-trait genome-wide association study (GWAS) for male puberty timing identifies 76 independent signals for puberty timing and highlights relationships with natural hair colour and lifespan. The timing of puber...

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ESPE Yearbook of Paediatric Endocrinology

7.5 Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

15.9. Genetic insights into biological mechanisms governing human ovarian ageing

7.13. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

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