Top Tweets for #TADopathy

almost 2 years ago

Check out our new study just published in @GenomeMedicine! Important findings for medical geneticists 👨‍⚕️🧬🔬 #3dgenome #chromatin #gigantism #GPR101 #TADopathy #X-LAG @ENEA_Young @ENEAssoc @EYEScientists @EnGioi_Endo

Genome Medicine @GenomeMedicine

almost 2 years ago

In new work on GM, Daly and coll. demonstrate how chromatin conformation capture methods can help the diagnostic interpretation of pathogenic events involving complex genomic structural rearrangements @GP_R101 @mamartl https://t.co/tzZK5wCVfP

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Giampaolo Trivellin @GP_R101

over 2 years ago

Happy to share a recent case report on the ultra-rare genetic disease X-linked acrogigantism, where I contributed to the characterization of the #TADopathy. Congrats to Dr Adrian Daly who led this study! #3Dgenome #TAD #gigantism https://t.co/2KrTsIbHZS https://t.co/WNnkrhM3Jc

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Giampaolo Trivellin @GP_R101

over 4 years ago

📣📣📣our latest paper is out today in @AJHGNews!!! Check it out at https://t.co/GZSxgbcog4 It reports the 1st description of a #TADopathy in #Endocrinology, one that causes X-linked acrogigantism (#XLAG) and explains why #GPR101 is over-expressed in #pituitary tumors A🧵soon!

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