De Franco E - Search Results

1

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

Lundgren M, De Franco E, Arnell H, Fischler B. Lundgren M, et al. Among authors: de franco e. Clin Case Rep. 2019 May 1;7(6):1133-1138. doi: 10.1002/ccr3.2168. eCollection 2019 Jun. Clin Case Rep. 2019. PMID: 31183082 Free PMC article.

2

Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetes.

Asl SN, Vakili R, Vakili S, Soheilipour F, Hashemipour M, Ghahramani S, De Franco E, Yaghootkar H. Asl SN, et al. Among authors: de franco e. J Pediatr Endocrinol Metab. 2019 Jun 26;32(6):607-613. doi: 10.1515/jpem-2018-0434. J Pediatr Endocrinol Metab. 2019. PMID: 31141482

3

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

Splittstoesser V, Vollbach H, Plamper M, Garbe W, De Franco E, Houghton JAL, Dueker G, Ganschow R, Gohlke B, Schreiner F. Splittstoesser V, et al. Among authors: de franco e. Front Endocrinol (Lausanne). 2021 Apr 16;12:665336. doi: 10.3389/fendo.2021.665336. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33935973 Free PMC article.

4

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

De Franco E, Wakeling MN, Frew RD, Russ-Silsby J, Peters C, Marks SD, Hattersley AT, Flanagan SE. De Franco E, et al. Clin Genet. 2022 Nov;102(5):457-458. doi: 10.1111/cge.14187. Epub 2022 Jul 18. Clin Genet. 2022. PMID: 35856135 Free PMC article.

5

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.

De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH; International NDM Consortium; Hattersley AT, Ellard S. De Franco E, et al. Diabetes. 2013 Mar;62(3):993-7. doi: 10.2337/db12-0885. Epub 2012 Dec 6. Diabetes. 2013. PMID: 23223019 Free PMC article.

6

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.

De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, Hattersley AT, Ellard S. De Franco E, et al. Diabet Med. 2013 May;30(5):e197-200. doi: 10.1111/dme.12122. Epub 2013 Feb 28. Diabet Med. 2013. PMID: 23320570 Free PMC article.

7

Neonatal diabetes caused by disrupted pancreatic and β-cell development.

De Franco E. De Franco E. Diabet Med. 2021 Dec;38(12):e14728. doi: 10.1111/dme.14728. Epub 2021 Oct 26. Diabet Med. 2021. PMID: 34665882 Review.

8

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.

Demirbilek H, Cayir A, Flanagan SE, Yıldırım R, Kor Y, Gurbuz F, Haliloğlu B, Yıldız M, Baran RT, Akbas ED, Demiral M, Ünal E, Arslan G, Vuralli D, Buyukyilmaz G, Al-Khawaga S, Saeed A, Al Maadheed M, Khalifa A, Onal H, Yuksel B, Ozbek MN, Bereket A, Hattersley AT, Hussain K, De Franco E. Demirbilek H, et al. Among authors: de franco e. J Clin Endocrinol Metab. 2020 Dec 1;105(12):e4351-9. doi: 10.1210/clinem/dgaa613. J Clin Endocrinol Metab. 2020. PMID: 32893856 Free PMC article.

9

Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.

Akerman I, Maestro MA, De Franco E, Grau V, Flanagan S, García-Hurtado J, Mittler G, Ravassard P, Piemonti L, Ellard S, Hattersley AT, Ferrer J. Akerman I, et al. Among authors: de franco e. Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. Cell Rep. 2021. PMID: 33852861 Free PMC article.

10

Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country.

Ibrahim MN, Laghari TM, Riaz M, Khoso Z, Khan YN, Yasir M, Hanif MI, Flanagan SE, De Franco E, Raza J. Ibrahim MN, et al. Among authors: de franco e. J Pediatr Endocrinol Metab. 2021 Jun 30;34(9):1095-1103. doi: 10.1515/jpem-2020-0669. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34187112

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