Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

por Gabbay, Monica, Ellard, Sian, De Franco, Elisa, Moisés, Regina S.
Publicado 2017

Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report

por Lundgren, Markus, De Franco, Elisa, Arnell, Henrik, Fischler, Björn
Publicado 2019

Pathological β-Cell Endoplasmic Reticulum Stress in Type 2 Diabetes: Current Evidence

por Shrestha, Neha, De Franco, Elisa, Arvan, Peter, Cnop, Miriam
Publicado 2021

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

por Gole, Evangelia, Oikonomou, Stavroula, Ellard, Sian, De Franco, Elisa, Karavanaki, Kyriaki
Publicado 2018

MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

por Aly, Hanan Hassan, De Franco, Elisa, Flanagan, Sarah E., Elhenawy, Yasmine I.
Publicado 2022

Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth

por Hughes, Alice E., De Franco, Elisa, Freathy, Rachel M., Flanagan, Sarah E., Hattersley, Andrew T.
Publicado 2023

Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology

por Antosik, Karolina, Gnys, Piotr, De Franco, Elisa, Borowiec, Maciej, Mysliwiec, Malgorzata, Ellard, Sian, Mlynarski, Wojciech
Publicado 2015

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

por Yau, Daphne, De Franco, Elisa, Flanagan, Sarah E., Ellard, Sian, Blumenkrantz, Miriam, Mitchell, John J.
Publicado 2017

In celebration of a century with insulin – Update of insulin gene mutations in diabetes

por Støy, Julie, De Franco, Elisa, Ye, Honggang, Park, Soo-Young, Bell, Graeme I., Hattersley, Andrew T.
Publicado 2021

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

por De Franco, Elisa, Shaw-Smith, Charles, Flanagan, Sarah E., Shepherd, Maggie H., Hattersley, Andrew T., Ellard, Sian
Publicado 2013

Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey

por Öngen, Yasemin Denkboy, Eren, Erdal, Demirbaş, Özgecan, Sobu, Elif, Ellard, Sian, De Franco, Elisa, Tarım, Ömer
Publicado 2021

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome d...

por Evliyaoğlu, Olcay, Ercan, Oya, Ataloğlu, Emel, Zübarioğlu, Ümit, Özcabı, Bahar, Dağdeviren, Aydilek, Erdoğan, Hande, De Franco, Elisa, Ellard, Sian
Publicado 2018

Identification of GCK-MODY in cases of neonatal hyperglycemia: a case series and review of clinical features

por Hughes, Alice E, De Franco, Elisa, Globa, Evgenia, Zelinska, Nataliya, Hilgard, Dörte, Sifianou, Popi, Hattersley, Andrew T, Flanagan, Sarah E
Publicado 2021

Case Report: Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

por London, Shira, De Franco, Elisa, Elias-Assad, Ghadir, Barhoum, Marie Noufi, Felszer, Clari, Paniakov, Marina, Weiner, Scott A., Tenenbaum-Rakover, Yardena
Publicado 2021

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

por De Franco, Elisa, Flanagan, Sarah E, Houghton, Jayne AL, Allen, Hana Lango, Mackay, Deborah JG, Temple, I Karen, Ellard, Sian, Hattersley, Andrew T
Publicado 2015

A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly

por De Franco, Elisa, Wakeling, Matthew N., Frew, Russel D., Russ‐Silsby, James, Peters, Catherine, Marks, Stephen D., Hattersley, Andrew T., Flanagan, Sarah E.
Publicado 2022

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

por Novak, Anela, Bowman, Pamela, Kraljevic, Ivana, Tripolski, Marija, Houghton, Jayne A.L., De Franco, Elisa, Shepherd, Maggie H., Skrabic, Veselin, Patel, Kashyap A.
Publicado 2020

Case Report: Extended Clinical Spectrum of the Neonatal Diabetes With Congenital Hypothyroidism Syndrome

por Splittstoesser, Vera, Vollbach, Heike, Plamper, Michaela, Garbe, Werner, De Franco, Elisa, Houghton, Jayne A. L., Dueker, Gesche, Ganschow, Rainer, Gohlke, Bettina, Schreiner, Felix
Publicado 2021

SavvyCNV: Genome-wide CNV calling from off-target reads

por Laver, Thomas W., De Franco, Elisa, Johnson, Matthew B., Patel, Kashyap A., Ellard, Sian, Weedon, Michael N., Flanagan, Sarah E., Wakeling, Matthew N.
Publicado 2022

The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype

por Reinauer, Christina, Rosenbauer, Joachim, Bächle, Christina, Herder, Christian, Roden, Michael, Ellard, Sian, De Franco, Elisa, Karges, Beate, Holl, Reinhard W., Enczmann, Jürgen, Meissner, Thomas
Publicado 2017