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Article

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

The Journal of clinical endocrinology and metabolism - 13 Aug 2024

Rapini Novella, Delvecchio Maurizio, Mucciolo Mafalda, Ruta Rosario, Rabbone Ivana, Cherubini Valentino, Zucchini Stefano, Cianfarani Stefano, Prandi Elena, Schiaffini Riccardo, Bizzarri Carla, Piccini Barbara, Maltoni Giulio, Predieri Barbara, Minuto Nicola, Di Paola Rossella, Giordano Mara, Tinto Nadia, Grasso Valeria, Russo Lucia, Tiberi Valentina, Scaramuzza Andrea, Frontino Giulio, Maggio Maria Cristina, Musolino Gianluca, Piccinno Elvira, Tinti Davide, Carrera Paola, Mozzillo Enza, Cappa Marco, Iafusco Dario, Bonfanti Riccardo, Novelli Antonio, Barbetti Fabrizio

Abstract excerpt

CONTEXT: In the last decade the Sanger method of DNA sequencing has been replaced by next-generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM). OBJECTIVE: To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) vs 2013-2022 (NGS)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38408297
DOI: 10.1210/clinem/dgae095
PMCID: PMC11319002

Genes

BSCL2
FOXP3
IL2RA
LRBA
PDX1
ABCC8
GATA4
GATA6
HNF1B
INS
INSR
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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