Works matching AU De Franco, Elisa

Results: 68

Developmentally dynamic changes in DNA methylation in the human pancreas.

Published in:

BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10450-8

By:

MacCalman, Ailsa;
De Franco, Elisa;
Franklin, Alice;
Flaxman, Christine S.;
Richardson, Sarah J.;
Murrall, Kathryn;
Burrage, Joe;
Walker, Emma M.;
Morgan, Noel G.;
Hattersley, Andrew T.;
Dempster, Emma L.;
Hannon, Eilis;
Jeffries, Aaron R.;
Owens, Nick D. L.;
Mill, Jonathan

Publication type:

Article

Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop‐gain variant.

Published in:

2025

By:

Donis, Russell;
Al Badi, Maryam;
Alhashmi, Nadia;
Hattersley, Andrew T;
Flanagan, Sarah E;
De Franco, Elisa

Publication type:

Case Study

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

Published in:

Journal of Diabetes Investigation, 2023, v. 14, n. 4, p. 516, doi. 10.1111/jdi.13968

By:

Aly, Hanan Hassan;
De Franco, Elisa;
Flanagan, Sarah E.;
Elhenawy, Yasmine I.

Publication type:

Article

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

Published in:

Clinical Genetics, 2022, v. 102, n. 5, p. 457, doi. 10.1111/cge.14187

By:

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

Publication type:

Article

HNRNPH1‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Published in:

Clinical Genetics, 2020, v. 98, n. 1, p. 91, doi. 10.1111/cge.13765

By:

Reichert, Sara C.;
Li, Rachel;
Turner, Scott;
Jaarsveld, Richard H.;
Massink, Maarten P.G.;
Boogaard, Marie‐José H.;
Toro, Mireia;
Rodríguez‐Palmero, Agustí;
Fourcade, Stéphane;
Schlüter, Agatha;
Planas‐Serra, Laura;
Pujol, Aurora;
Iascone, Maria;
Maitz, Silvia;
Loong, Lucy;
Stewart, Helen;
De Franco, Elisa;
Ellard, Sian;
Frank, Julie;
Lewandowski, Raymond

Publication type:

Article

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Published in:

Nature Genetics, 2012, v. 44, n. 1, p. 20, doi. 10.1038/ng.1035

By:

Allen, Hana Lango;
Flanagan, Sarah E;
Shaw-Smith, Charles;
De Franco, Elisa;
Akerman, Ildem;
Caswell, Richard;
Ferrer, Jorge;
Hattersley, Andrew T;
Ellard, Sian

Publication type:

Article

Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated Permanent Neonatal Diabetes.

Published in:

2021

By:

Bowman, Pamela;
Mathews, Frances;
Barbetti, Fabrizio;
Shepherd, Maggie H.;
Sanchez, Janine;
Piccini, Barbara;
Beltrand, Jacques;
Letourneau-Freiberg, Lisa R.;
Polak, Michel;
Greeley, Siri Atma W.;
Rawlins, Eamon;
Babiker, Tarig;
Thomas, Nicholas J.;
De Franco, Elisa;
Ellard, Sian;
Flanagan, Sarah E.;
Hattersley, Andrew T.;
Mohsin, Fauzia;
Cummings, Elizabeth;
LeGault, Laurent

Publication type:

journal article

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.

Published in:

2020

By:

Franco, Elisa De;
Lytrivi, Maria;
Ibrahim, Hazem;
Montaser, Hossam;
Wakeling, Matthew N.;
Fantuzzi, Federica;
Patel, Kashyap;
Demarez, Céline;
Ying Cai;
Igoillo-Esteve, Mariana;
Cosentino, Cristina;
Lithovius, Väinö;
Vihinen, Helena;
Jokitalo, Eija;
Laver, Thomas W.;
Johnson, Matthew B.;
Sawatani, Toshiaki;
Shakeri, Hadis;
Pachera, Nathalie;
Haliloglu, Belma

Publication type:

journal article

A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.

Published in:

Diabetic Medicine, 2025, v. 42, n. 3, p. 1, doi. 10.1111/dme.15471

By:

Donis, Russell;
Patel, Kashyap A.;
Wakeling, Matthew N.;
Johnson, Matthew B.;
Amoli, Masha M.;
Yildiz, Melek;
Akçay, Teoman;
Aspi, Irani;
Yong, James;
Yaghootkar, Hanieh;
Weedon, Michael N.;
Hattersley, Andrew T.;
Flanagan, Sarah E.;
De Franco, Elisa

Publication type:

Article

Neonatal and early‐onset diabetes in Ukraine: Atypical features and mortality.

Published in:

Diabetic Medicine, 2023, v. 40, n. 5, p. 1, doi. 10.1111/dme.15013

By:

Globa, Evgenia;
Zelinska, Nataliya;
Johnson, Matthew B.;
Flanagan, Sarah E.;
De Franco, Elisa

Publication type:

Article

Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience.

Published in:

Hormone Research in Paediatrics, 2020, v. 93, n. 7/8, p. 423, doi. 10.1159/000512247

By:

Abali, Zehra Yavas;
De Franco, Elisa;
Karakilic Ozturan, Esin;
Poyrazoglu, Sukran;
Bundak, Ruveyde;
Bas, Firdevs;
Flanagan, Sarah E.;
Darendeliler, Feyza

Publication type:

Article

Correction: Reinauer et al., The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype. Genes 2017, 8, 146.

Published in:

2018

By:

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

Publication type:

Correction Notice

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

Published in:

Genes, 2017, v. 8, n. 5, p. 146, doi. 10.3390/genes8050146

By:

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

Publication type:

Article

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

Published in:

Nature Genetics, 2014, v. 46, n. 8, p. 812, doi. 10.1038/ng.3040

By:

Flanagan, Sarah E;
Haapaniemi, Emma;
Russell, Mark A;
Caswell, Richard;
Allen, Hana Lango;
De Franco, Elisa;
McDonald, Timothy J;
Rajala, Hanna;
Ramelius, Anita;
Barton, John;
Heiskanen, Kaarina;
Heiskanen-Kosma, Tarja;
Kajosaari, Merja;
Murphy, Nuala P;
Milenkovic, Tatjana;
Seppänen, Mikko;
Lernmark, Åke;
Mustjoki, Satu;
Otonkoski, Timo;
Kere, Juha

Publication type:

Article

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Published in:

Nature Genetics, 2014, v. 46, n. 1, p. 61, doi. 10.1038/ng.2826

By:

Weedon, Michael N;
Cebola, Inês;
Patch, Ann-Marie;
Flanagan, Sarah E;
De Franco, Elisa;
Caswell, Richard;
Rodríguez-Seguí, Santiago A;
Shaw-Smith, Charles;
Cho, Candy H-H;
Allen, Hana Lango;
Houghton, Jayne A L;
Roth, Christian L;
Chen, Rongrong;
Hussain, Khalid;
Marsh, Phil;
Vallier, Ludovic;
Murray, Anna;
Ellard, Sian;
Ferrer, Jorge;
Hattersley, Andrew T

Publication type:

Article

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

Published in:

PLoS Computational Biology, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.pcbi.1009940

By:

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

Publication type:

Article

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

Published in:

2017

By:

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

Publication type:

Case Study

Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.

Published in:

Acta Diabetologica, 2021, v. 58, n. 12, p. 1689, doi. 10.1007/s00592-021-01788-6

By:

Laimon, Wafaa;
El-Ziny, Magdy;
El-Hawary, Amany;
Elsharkawy, Ashraf;
Salem, Nanees Abdel-Badie;
Aboelenin, Hadil Mohamed;
Awad, Mohammad Hosny;
Flanagan, Sarah E.;
De Franco, Elisa

Publication type:

Article

Clinical and molecular characteristics of infantileonset diabetes mellitus in Egypt.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 3, p. 214, doi. 10.6065/apem.2142184.092

By:

Abdelmeguid, Yasmine;
Mowafy, Ehsan Wafa;
Marzouk, Iman;
De Franco, Elisa;
Elsayed, Shaymaa

Publication type:

Article

Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan.

Published in:

Pediatric Diabetes, 2024, v. 2024, p. 1, doi. 10.1155/2024/2032425

By:

Hassan, Samar S.;
Musa, Salwa A.;
De Franco, Elisa;
Donis Frew, Russel;
Babiker, Omer O.;
Mohamadsalih, Ghassan F.;
Ibrahim, Areej A.;
Abu Samra, Samar;
Abdullah, Mohamed A.

Publication type:

Article

Identification of GCK‐maturity‐onset diabetes of the young in cases of neonatal hyperglycemia: A case series and review of clinical features.

Published in:

Pediatric Diabetes, 2021, v. 22, n. 6, p. 876, doi. 10.1111/pedi.13239

By:

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

Publication type:

Article

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Published in:

Pediatric Diabetes, 2018, v. 19, n. 5, p. 898, doi. 10.1111/pedi.12669

By:

Demirbilek, Huseyin;
Hatipoglu, Nihal;
Gul, Ulku;
Tatli, Zeynep U.;
Ellard, Sian;
Flanagan, Sarah E.;
De Franco, Elisa;
Kurtoglu, Selim

Publication type:

Article

Genetic Etiology of Neonatal Diabetes Mellitus in Vietnamese Infants and Characteristics of Those With INS Gene Mutations.

Published in:

Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.866573

By:

Ngoc, Can Thi Bich;
Dung, Vu Chi;
De Franco, Elisa;
Lan, Nguyen Ngoc;
Thao, Bui Phuong;
Khanh, Nguyen Ngoc;
Flanagan, Sarah E.;
Craig, Maria E.;
Hoang, Nguyen Huy;
Dien, Tran Minh

Publication type:

Article

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

Published in:

Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2021.665336

By:

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

Publication type:

Article

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K<sub>ATP</sub>-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.727083

By:

Ngoc, Can Thi Bich;
Dien, Tran Minh;
De Franco, Elisa;
Ellard, Sian;
Houghton, Jayne A. L.;
Lan, Nguyen Ngoc;
Thao, Bui Phuong;
Khanh, Nguyen Ngoc;
Flanagan, Sarah E.;
Craig, Maria E.;
Dung, Vu Chi

Publication type:

Article

Infancy‐onset diabetes caused by de‐regulated AMPylation of the human endoplasmic reticulum chaperone BiP.

Published in:

EMBO Molecular Medicine, 2023, v. 15, n. 3, p. 1, doi. 10.15252/emmm.202216491

By:

Perera, Luke A;
Hattersley, Andrew T;
Harding, Heather P;
Wakeling, Matthew N;
Flanagan, Sarah E;
Mohsina, Ibrahim;
Raza, Jamal;
Gardham, Alice;
Ron, David;
De Franco, Elisa

Publication type:

Article

Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.

Published in:

Diabetologia, 2024, v. 67, n. 1, p. 113, doi. 10.1007/s00125-023-06030-2

By:

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

Publication type:

Article

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Published in:

Diabetologia, 2022, v. 65, n. 7, p. 1179, doi. 10.1007/s00125-022-05697-3

By:

Wyatt, Rebecca C.;
Hagopian, William A.;
Roep, Bart O.;
Patel, Kashyap A.;
Resnick, Brittany;
Dobbs, Rebecca;
Hudson, Michelle;
De Franco, Elisa;
Ellard, Sian;
Flanagan, Sarah E.;
Hattersley, Andrew T.;
Oram, Richard A.;
Johnson, Matthew B.

Publication type:

Article

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells.

Published in:

Diabetologia, 2020, v. 63, n. 12, p. 2605, doi. 10.1007/s00125-020-05276-4

By:

Johnson, Matthew B.;
Patel, Kashyap A.;
De Franco, Elisa;
Hagopian, William;
Killian, Michael;
McDonald, Timothy J.;
Tree, Timothy I. M.;
Domingo-Vila, Clara;
Hudson, Michelle;
Hammersley, Suzanne;
Dobbs, Rebecca;
Ellard, Sian;
Flanagan, Sarah E.;
Hattersley, Andrew T.;
Oram, Richard A.

Publication type:

Article

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Published in:

Diabetologia, 2018, v. 61, n. 5, p. 1027, doi. 10.1007/s00125-018-4554-x

By:

Habeb, Abdelhadi M.;
Flanagan, Sarah E.;
Zulali, Mohamed A.;
Abdullah, Mohamed A.;
Pomahačová, Renata;
Boyadzhiev, Veselin;
Colindres, Lesby E.;
Godoy, Guillermo V.;
Vasanthi, Thiruvengadam;
Al Saif, Ramlah;
Setoodeh, Aria;
Haghighi, Amirreza;
Haghighi, Alireza;
Shaalan, Yomna;
International Neonatal Diabetes Consortium;
Hattersley, Andrew T.;
Ellard, Sian;
De Franco, Elisa

Publication type:

Article

Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6.

Published in:

Biotechnology & Biotechnological Equipment, 2018, v. 32, n. 1, p. 124, doi. 10.1080/13102818.2017.1400402

By:

Savova, Radka;
De Franco, Elisa;
Shaw-Smith, Charles;
Georgieva, Ralitza;
Konstantinova, Maia;
Archinkova, Margarita;
Panteleeva, Emilia;
Kaneva, Anna;
Marinov, Rumen;
Ellard, Sian;
Hattersley, Andrew

Publication type:

Article

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

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.673755

By:

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

Publication type:

Article

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

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.650158

By:

Shrestha, Neha;
De Franco, Elisa;
Arvan, Peter;
Cnop, Miriam

Publication type:

Article

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

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.665336

By:

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

Publication type:

Article

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.

Published in:

Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01358-9

By:

Mackay, Deborah;
Bliek, Jet;
Kagami, Masayo;
Tenorio-Castano, Jair;
Pereda, Arrate;
Brioude, Frédéric;
Netchine, Irène;
Papingi, Dzhoy;
de Franco, Elisa;
Lever, Margaret;
Sillibourne, Julie;
Lombardi, Paola;
Gaston, Véronique;
Tauber, Maithé;
Diene, Gwenaelle;
Bieth, Eric;
Fernandez, Luis;
Nevado, Julian;
Tümer, Zeynep;
Riccio, Andrea

Publication type:

Article

FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 662, doi. 10.1007/s10875-022-01428-w

By:

Wyatt, Rebecca C.;
Olek, Sven;
De Franco, Elisa;
Samans, Bjoern;
Patel, Kashyap;
Houghton, Jayne;
Walter, Steffi;
Schulze, Janika;
Bacchetta, Rosa;
Hattersley, Andrew T.;
Flanagan, Sarah E.;
Johnson, Matthew B.

Publication type:

Article

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

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 1, p. 80, doi. 10.4274/jcrpe.galenos.2020.2020.0093

By:

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

Publication type:

Article

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 2, p. 175, doi. 10.4274/jcrpe.5166

By:

Gole, Evangelia;
Oikonomou, Stavroula;
Karavanaki, Kyriaki;
Ellard, Sian;
De Franco, Elisa

Publication type:

Article

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 2, p. 168, doi. 10.4274/jcrpe.5162

By:

Evliyaoğlu, Olcay;
Ercan, Oya;
Özcabı, Bahar;
Dağdeviren, Aydilek;
Erdoğan, Hande;
Ataoğlu, Emel;
Zübarioğlu, Ümit;
De Franco, Elisa;
Ellard, Sian

Publication type:

Article

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

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 3, p. 274, doi. 10.4274/jcrpe.4494

By:

Gabbay, Monica;
Ellard, Sian;
De Franco, Elisa;
Moisés, Regina S.

Publication type:

Article

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 3, p. 260, doi. 10.4274/jcrpe.4624

By:

Flanagan, Sarah E.;
Vũ Chí Dũng;
Houghton, Jayne A. L.;
De Franco, Elisa;
Can Thi Bich Ngoc;
Damhuis, Annet;
Ashcroft, Frances M.;
Harries, Lorna W.;
Ellard, Sian

Publication type:

Article

A Diabetic Infant with Homozygous LRBA Mutation: The Youngest Patient Reported.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, p. 16

By:

Güven, Ayla;
Jonhson, Matthew;
De Franco, Elisa

Publication type:

Article

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 ( GLIS3).

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1918, doi. 10.1002/ajmg.a.37680

By:

Dimitri, Paul;
De Franco, Elisa;
Habeb, Abdelhadi M.;
Gurbuz, Fatih;
Moussa, Khairya;
Taha, Doris;
Wales, Jerry K. H.;
Hogue, Jacob;
Slavotinek, Anne;
Shetty, Ambika;
Balasubramanian, Meena

Publication type:

Article

Identification of novel variants in neonatal diabetes mellitus genes in Egyptian patients with permanent NDM.

Published in:

International Journal of Diabetes in Developing Countries, 2019, v. 39, n. 1, p. 53, doi. 10.1007/s13410-018-0658-6

By:

Madani, Hanan;
Alkholy, Badawy;
Elkaffas, Rasha;
Hussain, Khalid;
Musa, Noha;
Shaalan, Yomna;
Elkaffas, Rania;
Hassan, Mona;
Hafez, Mona;
Flanagan, Sarah E;
De Franco, Elisa

Publication type:

Article

Erratum. Recessively Inherited Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322.

Published in:

2018

By:

Johnson, Matthew B;
De Franco, Elisa;
Lango Allen, Hana;
Al Senani, Aisha;
Elbarbary, Nancy;
Siklar, Zeynep;
Berberoglu, Merih;
Imane, Zineb;
Haghighi, Alireza;
Razavi, Zahra;
Ullah, Irfan;
Alyaarubi, Saif;
Gardner, Daphne;
Ellard, Sian;
Hattersley, Andrew T;
Flanagan, Sarah E

Publication type:

journal article

Recessively Inherited Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Published in:

2017

By:

Johnson, Matthew B.;
De Franco, Elisa;
Lango Allen, Hana;
Al Senani, Aisha;
Elbarbary, Nancy;
Siklar, Zeynep;
Berberoglu, Merih;
Imane, Zineb;
Haghighi, Alireza;
Razavi, Zahra;
Ullah, Irfan;
Alyaarubi, Saif;
Gardner, Daphne;
Ellard, Sian;
Hattersley, Andrew T.;
Flanagan, Sarah E.

Publication type:

journal article

Dominant ER Stress-Inducing Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.

Published in:

2017

By:

De Franco, Elisa;
Flanagan, Sarah E.;
Takuya Yagi;
Abreu, Damien;
Mahadevan, Jana;
Johnson, Matthew B.;
Jones, Garan;
Acosta, Fernanda;
Mulaudzi, Mphele;
Ngee Lek;
Oh, Vera;
Petz, Oliver;
Caswell, Richard;
Ellard, Sian;
Fumihiko Urano;
Hattersley, Andrew T.;
Yagi, Takuya;
Lek, Ngee;
Urano, Fumihiko

Publication type:

journal article

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

Published in:

2016

By:

Houghton, Jayne A. L.;
Swift, Galvin H.;
Shaw-Smith, Charles;
Flanagan, Sarah E.;
de Franco, Elisa;
Caswell, Richard;
Hussain, Khalid;
Mohamed, Sarar;
Abdulrasoul, Majedah;
Hattersley, Andrew T.;
MacDonald, Raymond J.;
Ellard, Sian

Publication type:

journal article

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.

Published in:

2016

By:

Patel, Kashyap A.;
Oram, Richard A.;
Flanagan, Sarah E.;
De Franco, Elisa;
Colclough, Kevin;
Shepherd, Maggie;
Ellard, Sian;
Weedon, Michael N.;
Hattersley, Andrew T.;
Patel, K A;
Oram, R A;
Flanagan, S E;
De Franco, E;
Colclough, K;
Shepherd, M;
Ellard, S;
Weedon, M N;
Hattersley, A T

Publication type:

journal article

GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes.

Published in:

Diabetes, 2014, v. 63, n. 8, p. 2888, doi. 10.2337/db14-0061

By:

Shaw-Smith, Charles;
De Franco, Elisa;
Allen, Hana Lango;
Batlle, Marta;
Flanagan, Sarah E.;
Borowiec, Maciej;
Taplin, Craig E.;
van Alfen-van der Velden, Janiëlle;
Cruz-Rojo, Jaime;
Perez de Nanclares, Guiomar;
Miedzybrodzka, Zosia;
Deja, Grazyna;
Wlodarska, Iwona;
Mlynarski, Wojciech;
Ferrer, Jorge;
Hattersley, Andrew T.;
Ellard, Sian

Publication type:

Article