Abstract Search

ey0016.6-4 | New Functions of (Old) Genes | ESPEYB16

6.4. Essential role of BRCA2 in ovarian development and function

A Weinberg-Shukron , M Rachmiel , P Renbaum , S Gulsuner , T Walsh , O Lobel , A Dreifuss , A Ben-Moshe , S Zeligson , R Segel , T Shore , R Kalifa , M Goldberg , MC King , O Gerlitz , E Levy-Lahad , D Zangen

N Engl J Med. 2018 Sep 13;379(11):10421049.doi: 10.1056/NEJMoa1800024. PMID: 30207912This case report describes two sisters with 46,XX karyotype and hypergonadotropic hypogonadism i.e. ovarian dysgenesis. They had normal general development and normal cognition. With estrogen replacement they developed normal sex characteristics and reached their target he...

0 shares

ey0021.3-13 | Thyroid Autoimmunity | ESPEYB21

3.13. Epigenome-wide association study shows differential DNA methylation of MDC1, KLF9, and CUTA in autoimmune thyroid disease

Lafontaine Nicole , Shore Christopher J , Campbell Purdey J , Mullin Benjamin H , Brown Suzanne J , Panicker Vijay , Dudbridge Frank , Brix Thomas H , Hegedus Laszlo , Wilson Scott G , Bell Jordana T , Walsh John P

Brief Summary: This epigenome-wide association study (EWAS) aimed to identify differentially methylated positions (DMPs) and regions (DMRs) between Graves disease (GD) and Hashimotos disease (HD) in two independent patient cohorts from Australia (30 patients with GD and 30 with HD, discovery cohort) and Denmark (32 patients with GD and 32 with HD, replication cohort). Linear mixed models were used to test for differences in quantile-normalized β values of DNAm...

0 shares

ESPE Yearbook of Paediatric Endocrinology

6.4. Essential role of BRCA2 in ovarian development and function

3.13. Epigenome-wide association study shows differential DNA methylation of MDC1, KLF9, and CUTA in autoimmune thyroid disease

BiosciAbstracts