ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 2 results

ey0018.1-8 | Genetics | ESPEYB18

1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

SA Vishnopolska , MF Mercogliano , MA Camilletti , AH Mortensen , D Braslavsky , A Keselman , I Bergada , F Olivieri , L Miranda , R Marino , P Ramirez , GN Perez , H Patino Mejia , M Ciaccio , MI Di Palma , A Belgorosky , A Marti Marcelo , JO Kitzman , SA Camper , MI Perez-Millan

J Clin Endocrinol Metab. 2021 Mar 17:dgab177. doi: 10.1210/clinem/dgab177. PMID: 33729509.Vishnopolska et al. conducted a comprehensive evaluation of 67 hypopituitarism candidate genes in 170 congenital hypopituitarism (CH) patients from Argentina by using small molecule molecular inversion probes followed by sequencing (smMIPS) panel. 57 patients had isolated growth hormone defici...
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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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Published by BioScientifica

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