ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 2 results

ey0021.1-9 | Novel Genes | ESPEYB21

1.9. Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

J Martinez-Mayer , S Vishnopolska , C Perticarari , LI Garcia , M Hackbartt , M Martinez , J Zaiat , A Jacome-Alvarado , D Braslavsky , A Keselman , I Bergada , R Marino , P Ramirez , NP Garrido , M Ciaccio , Palma MI Di , A Belgorosky , MV Forclaz , G Benzrihen , S D'Amato , ML Cirigliano , M Miras , AP Nunez , L Castro , MS Mallea-Gil , C Ballarino , L Latorre-Villacorta , AC Casiello , C Hernandez , V Figueroa , G Alonso , A Morin , Z Guntsche , H Lee , E Lee , Y Song , MA Marti , MI Perez-Millan

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...
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ey0019.15-18 | Basic Science and Genetics | ESPEYB19

15.18. Life histories of myeloproliferative neoplasms inferred from phylogenies

N Williams , J Lee , E Mitchell , L Moore , EJ Baxter , J Hewinson , KJ Dawson , A Menzies , AL Godfrey , AR Green , PJ Campbell , J Nangalia

Nature. 2022;602(7895):162-8. doi: 10.1038/s41586-021-04312-6.PubMed ID: 35058638Brief summary: This study performed whole-genome sequencing (WGS) of 1013 clonal haematopoietic cell colonies from 12 adult patients aged 20–81 years with myeloproliferative neoplasms, a form of blood cancer. They identified 580 133 somatic mutations and used these to reconstruct haematopoietic clonal his...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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