Zobrazeno 1 - 10
of 95
pro vyhledávání: '"De Franco, A."'
Autor:
MacCalman, Ailsa1 (AUTHOR), De Franco, Elisa1 (AUTHOR), Franklin, Alice1 (AUTHOR), Flaxman, Christine S.1 (AUTHOR), Richardson, Sarah J.1 (AUTHOR), Murrall, Kathryn1 (AUTHOR), Burrage, Joe1 (AUTHOR), Walker, Emma M.1 (AUTHOR), Morgan, Noel G.1 (AUTHOR), Hattersley, Andrew T.1 (AUTHOR), Dempster, Emma L.1 (AUTHOR), Hannon, Eilis1 (AUTHOR), Jeffries, Aaron R.2 (AUTHOR), Owens, Nick D. L.1 (AUTHOR), Mill, Jonathan1 (AUTHOR) j.mill@exeter.ac.uk
Publikováno v:
BMC Genomics. 6/3/2024, Vol. 25 Issue 1, p1-18. 18p.
Autor:
Yasemin Denkboy Öngen, Erdal Eren, Özgecan Demirbaş, Elif Sobu, Sian Ellard, Elisa De Franco, Ömer Tarım
Publikováno v:
JCRPE, Vol 13, Iss 1, Pp 80-87 (2021)
Objective:Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to pres
Externí odkaz:
https://doaj.org/article/7581c28c44f94a79bac473eee704e61d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Julie Støy, Elisa De Franco, Honggang Ye, Soo-Young Park, Graeme I. Bell, Andrew T. Hattersley
Publikováno v:
Molecular Metabolism, Vol 52, Iss , Pp 101280- (2021)
Background: While insulin has been central to the pathophysiology and treatment of patients with diabetes for the last 100 years, it has only been since 2007 that genetic variation in the INS gene has been recognised as a major cause of monogenic dia
Externí odkaz:
https://doaj.org/article/7b6472ca2feb41e7aae6548de0286d87
Autor:
Shira London, Elisa De Franco, Ghadir Elias-Assad, Marie Noufi Barhoum, Clari Felszer, Marina Paniakov, Scott A. Weiner, Yardena Tenenbaum-Rakover
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
BackgroundMutations in GLIS3 cause a rare syndrome characterized by neonatal diabetes mellitus (NDM), congenital hypothyroidism, congenital glaucoma and cystic kidneys. To date, 14 mutations in GLIS3 have been reported, inherited in an autosomal rece
Externí odkaz:
https://doaj.org/article/f1de03af23094f3ca5070d38763dcafb
Autor:
Ildem Akerman, Miguel Angel Maestro, Elisa De Franco, Vanessa Grau, Sarah Flanagan, Javier García-Hurtado, Gerhard Mittler, Philippe Ravassard, Lorenzo Piemonti, Sian Ellard, Andrew T. Hattersley, Jorge Ferrer
Publikováno v:
Cell Reports, Vol 35, Iss 2, Pp 108981- (2021)
Summary: Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their genomic location. This limits our understanding of disease-causing regulatory variants. INS promoter m
Externí odkaz:
https://doaj.org/article/282fb6a0abd54a338e19484f6b2bb305
Autor:
Vera Splittstoesser, Heike Vollbach, Michaela Plamper, Werner Garbe, Elisa De Franco, Jayne A. L. Houghton, Gesche Dueker, Rainer Ganschow, Bettina Gohlke, Felix Schreiner
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
BackgroundNeonatal diabetes with congenital hypothyroidism (NDH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLI-similar 3 coding gene GLIS3. Almost 20 patients have been reported to date, with signific
Externí odkaz:
https://doaj.org/article/2c4c6cfa982f459988f2117f3d8b8ff1
Autor:
Amaratunga, Shenali A., Hussein Tayeb, Tara, Muhamad Sediq, Rozhan N., Hama Salih, Fareda K., Dusatkova, Petra, Wakeling, Matthew N., De Franco, Elisa, Pruhova, Stepanka, Lebl, Jan
Publikováno v:
Diabetologia; Jan2024, Vol. 67 Issue 1, p113-123, 11p
Publikováno v:
Clinical Case Reports, Vol 7, Iss 6, Pp 1133-1138 (2019)
Key Clinical Message Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired ren
Externí odkaz:
https://doaj.org/article/798b5f8532304f8e81eb05e26f5fc96d
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.