Works by Flanagan, Sarah E.

Results: 163

Chromogranin-a staining reveals enteric anendocrinosis in unexplained congenital diarrhea.

Published in:

2013

By:

Sayar, Ersin;
Yilmaz, Aygen;
Islek, Ali;
Elpek, Gulsum O;
Flanagan, Sarah E;
Artan, Reha

Publication type:

Journal Article

Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia.

Published in:

2020

By:

Worth, Chris;
Hashmi, Laila Al;
Yau, Daphne;
Salomon-Estebanez, Maria;
Ruiz, Diego Perez;
Hall, Caroline;
O'Shea, Elaine;
Stokes, Helen;
Foster, Peter;
Flanagan, Sarah E.;
Cosgrove, Karen E;
Dunne, Mark J;
Banerjee, Indraneel

Publication type:

journal article

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.

Published in:

Pediatric & Developmental Pathology, 2019, v. 22, n. 1, p. 65, doi. 10.1177/1093526618765376

By:

Chinoy, Amish;
Banerjee, Indraneel;
Flanagan, Sarah E.;
Ellard, Sian;
Han, Bing;
Mohamed, Zainab;
Dunne, Mark J.;
Bitetti, Stefania

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

Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea‐treated KCNJ11 neonatal diabetes.

Published in:

Journal of Diabetes Investigation, 2023, v. 14, n. 12, p. 1378, doi. 10.1111/jdi.14071

By:

Bowman, Pamela;
Patel, Kashyap A;
McDonald, Timothy J;
Holst, Jens J;
Hartmann, Bolette;
Leveridge, Maria;
Shields, Beverley M;
Hammersley, Suzie;
Spaull, Steve R;
Knight, Bridget A;
Flanagan, Sarah E;
Shepherd, Maggie H;
Andrews, Rob C;
Hattersley, Andrew T

Publication type:

Article

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

The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 364, doi. 10.1111/cge.14657

By:

Jain, Vandana;
Radha, Venkatesan;
Mohan, Viswanathan;
Wakeling, Matthew N.;
Bennett, Jasmin J.;
Flanagan, Sarah E.

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

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1744, doi. 10.1038/ejhg.2015.161

By:

Sansbury, Francis H;
Kirel, Birgül;
Caswell, Richard;
Lango Allen, Hana;
Flanagan, Sarah E;
Hattersley, Andrew T;
Ellard, Sian;
Shaw-Smith, Charles J

Publication type:

Article

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.208

By:

Sansbury, Francis H;
Kirel, Birgül;
Caswell, Richard;
Lango Allen, Hana;
Flanagan, Sarah E;
Hattersley, Andrew T;
Ellard, Sian;
Shaw-Smith, Charles J

Publication type:

Article

Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.

Published in:

PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0228417

By:

Yau, Daphne;
Laver, Thomas W.;
Dastamani, Antonia;
Senniappan, Senthil;
Houghton, Jayne A. L.;
Shaikh, Guftar;
Cheetham, Tim;
Mushtaq, Talat;
Kapoor, Ritika R.;
Randell, Tabitha;
Ellard, Sian;
Shah, Pratik;
Banerjee, Indraneel;
Flanagan, Sarah E.

Publication type:

Article

Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest.

Published in:

Pediatric Blood & Cancer, 2013, v. 60, n. 7, p. 1242, doi. 10.1002/pbc.24529

By:

Dua, Vikas;
Yadav, Satya P.;
Kumar, Vijay;
Khan, Afaq Ahmed;
Puri, Ratna;
Verma, Ishwar C.;
Flanagan, Sarah E.;
Ellard, Sian;
Sachdeva, Anupam

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

Improved Neurodevelopment Following In Utero Sulfonylurea Exposure in a Patient With KCNJ11 Permanent Neonatal Diabetes: Future Implications for Targeted Treatment During Pregnancy.

Published in:

Diabetes Care, 2025, v. 48, n. 2, p. e10, doi. 10.2337/dc24-1862

By:

Bowman, Pamela;
Shepherd, Maggie H.;
Flanagan, Sarah E.;
Tonks, James;
Salguero-Bermonth, Maria;
Letourneau-Freiberg, Lisa;
Greeley, Siri A.W.;
Hattersley, Andrew T.

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

Cognitive, Neurological, and Behavioral Features in Adults With Neonatal Diabetes.

Published in:

2019

By:

Bowman, Pamela;
Day, Jacob;
Torrens, Lorna;
Shepherd, Maggie H.;
Knight, Bridget A.;
Ford, Tamsin J.;
Flanagan, Sarah E.;
Chakera, Ali;
Hattersley, Andrew T.;
Zeman, Adam

Publication type:

journal article

Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 6, p. 1, doi. 10.1210/jendso/bvac033

By:

Dastamani, Antonia;
Yau, Daphne;
Gilbert, Clare;
Morgan, Kate;
Coppi, Paolo De;
Craigie, Ross J;
Bomanji, Jamshed;
Biassoni, Lorenzo;
Sajjan, Rakesh;
Flanagan, Sarah E;
Houghton, Jayne A L;
Senniappan, Senthil;
Didi, Mohammed;
Dunne, Mark J;
Banerjee, Indraneel;
Shah, Pratik

Publication type:

Article

Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 4, p. 699, doi. 10.1210/js.2018-00417

By:

Maria, Güemes;
Antonia, Dastamani;
Michael, Ashworth;
Kate, Morgan;
Sian, Ellard;
Sarah, Flanagan E;
Mehul, Dattani;
Pratik, Shah

Publication type:

Article

Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism.

Published in:

Journal of Pathology: Clinical Research, 2020, v. 6, n. 1, p. 12, doi. 10.1002/cjp2.144

By:

Houghton, Jayne AL;
Banerjee, Indraneel;
Shaikh, Guftar;
Jabbar, Shamila;
Laver, Thomas W;
Cheesman, Edmund;
Chinnoy, Amish;
Yau, Daphne;
Salomon‐Estebanez, Maria;
Dunne, Mark J;
Flanagan, Sarah E

Publication type:

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

Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.

Published in:

2019

By:

Kostopoulou, Eirini;
Dastamani, Antonia;
Caiulo, Silvana;
Antell, Hannah;
Flanagan, Sarah E.;
Shah, Pratik

Publication type:

Case Study

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

Published in:

Clinical Endocrinology, 2018, v. 89, n. 5, p. 621, doi. 10.1111/cen.13841

By:

Laver, Thomas W.;
Wakeling, Matthew N.;
Hua, Janet Hong Yeow;
Houghton, Jayne A. L.;
Hussain, Khalid;
Ellard, Sian;
Flanagan, Sarah E.

Publication type:

Article

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene.

Published in:

2012

By:

Kapoor, Ritika R.;
Flanagan, Sarah E.;
Ellard, Sian;
Hussain, Khalid

Publication type:

Letter

Mutations in the ABCC8 (SUR1 subunit of the K<sub>ATP</sub> channel) gene are associated with a variable clinical phenotype.

Published in:

Clinical Endocrinology, 2009, v. 71, n. 3, p. 358, doi. 10.1111/j.1365-2265.2008.03478.x

By:

Klupa, Tomasz;
Kowalska, Irina;
Wyka, Krystyna;
Skupien, Jan;
Patch, Ann-Marie;
Flanagan, Sarah E.;
Noczynska, Anna;
Arciszewska, Malgorzata;
Ellard, Sian;
Hattersley, Andrew T.;
Sieradzki, Jacek;
Mlynarski, Wojciech;
Malecki, Maciej T.

Publication type:

Article

International Guidelines for the Diagnosis and Management of Hyperinsulinism.

Published in:

Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 279, doi. 10.1159/000531766

By:

De Leon, Diva D.;
Arnoux, Jean Baptiste;
Banerjee, Indraneel;
Bergada, Ignacio;
Bhatti, Tricia;
Conwell, Louise S.;
Fu, Junfen;
Flanagan, Sarah E.;
Gillis, David;
Meissner, Thomas;
Mohnike, Klaus;
Pasquini, Tai L.S.;
Shah, Pratik;
Stanley, Charles A.;
Vella, Adrian;
Yorifuji, Tohru;
Thornton, Paul S.

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

Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy.

Published in:

Hormone Research in Paediatrics, 2016, v. 85, n. 6, p. 421, doi. 10.1159/000446153

By:

Kocaay, Pınar;
Şiklar, Zeynep;
Ellard, Sian;
Yagmurlu, aydın;
Çamtosun, Emine;
Erden, Esra;
Berberoglu, Merih;
Flanagan, Sarah E.

Publication type:

Article

Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 190, doi. 10.1159/000369804

By:

Habeb, abdelhadi M.;
Deeb, asma;
Johnson, Matthew;
abdullah, Mohammed;
abdulrasoul, Majidah;
al-awneh, Hussain;
al-Maghamsi, Mohammed S.F.;
al-Murshedi, Fathiya;
al-Saif, Ramlah;
al-Sinani, Siham;
Ramadan, Dina;
Tfayli, Hala;
Flanagan, Sarah E.;
Ellard, Sian

Publication type:

Article

Congenital Hyperinsulinism due to a Compound Heterozygous ABCC8 Mutation with Spontaneous Resolution at Eight Weeks.

Published in:

Hormone Research in Paediatrics, 2010, v. 73, n. 4, p. 287, doi. 10.1159/000284394

By:

Kumaran, Anitha;
Kapoor, Ritika R.;
Flanagan, Sarah E.;
Ellard, Sian;
Hussain, Khalid

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

Comment on: Khurana et al. The Diagnosis of Neonatal Diabetes in a Mother at 25 Years of Age. Diabetes Care 2012;35:e59.

Published in:

2013

By:

CHAKERA, ALI J.;
FLANAGAN, SARAH E.;
ELLARD, SIAN;
HATTERSLEY, ANDREW T.

Publication type:

Letter

Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.

Published in:

2009

By:

Kumaraguru J;
Flanagan SE;
Greeley SA;
Nuboer R;
Støy J;
Philipson LH;
Hattersley AT;
Rubio-Cabezas O;
Kumaraguru, Janani;
Flanagan, Sarah E;
Greeley, Siri Atma W;
Nuboer, Roos;
Støy, Julie;
Philipson, Louis H;
Hattersley, Andrew T;
Rubio-Cabezas, Oscar

Publication type:

journal article

Tooth Discoloration in Patients With Neonatal Diabetes After Transfer Onto Glibenclamide.

Published in:

Diabetes Care, 2009, v. 32, n. 8, p. 1428, doi. 10.2337/dc09-0280

By:

Kumaraguru, Janani;
Flanagan, Sarah E.;
Greeley, Siri Atma W.;
Nuboer, Roos;
Støy, Julie;
Philipson, Louis H.;
Hattersley, Andrew T.;
Rubio-Cabezas, Oscar

Publication type:

Article

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.

Published in:

2008

By:

Stanik J;
Lethby M;
Flanagan SE;
Gasperikova D;
Milosovicova B;
Lever M;
Bullman H;
Zubcevic L;
Hattersley AT;
Ellard S;
Ashcroft FM;
Klimes I;
Staník, Juraj;
Lethby, Mark;
Flanagan, Sarah E;
Gasperíková, Daniela;
Milosovicová, Beata;
Lever, Margaret;
Bullman, Hilary;
Zubcevic, Lejla

Publication type:

journal article

Coincidence of a Novel KCNJ 11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes.

Published in:

Diabetes Care, 2008, v. 31, n. 9, p. 1736, doi. 10.2337/dc08-0549

By:

Staník, Juraj;
Lethby, Mark;
Flanagan, Sarah E.;
Gašperíková, Daniela;
Milošovičová, Beata;
Lever, Margaret;
Bullman, Hilary;
Zubcevic, Lejla;
Hattersley, Andrew T.;
Ellard, Sian;
Ashcroft, Frances M.;
Klimeš, Iwar

Publication type:

Article

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

Published in:

2008

By:

Rafiq M;
Flanagan SE;
Patch AM;
Shields BM;
Ellard S;
Hattersley AT;
Neonatal Diabetes International Collaborative Group;
Rafiq, Meena;
Flanagan, Sarah E;
Patch, Ann-Marie;
Shields, Beverley M;
Ellard, Sian;
Hattersley, Andrew T

Publication type:

journal article

Effective Treatment With Oral Sulfonylureas in Patients With Diabetes Due to Sulfonylurea Receptor 1 (SUR1) Mutations.

Published in:

Diabetes Care, 2008, v. 31, n. 2, p. 204, doi. 10.2337/dc07-1785

By:

Rafiq, Meena;
Flanagan, Sarah E.;
Patch, Ann-Marie;
Shields, Beverley M.;
Ellard, Sian;
Hattersley, Andrew T.

Publication type:

Article

Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days.

Published in:

Diabetes Care, 2007, v. 30, n. 5, p. e28, doi. 10.2337/dc06-2134

By:

CODNER, ETHEL;
E FLANAGAN, SARAH;
UGARTE, FRANCISCA;
GARCÃA, HERNAN;
VIDAL, TERESA;
ELLARD, SIAN;
T HATTERSLEY, ANDREW

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

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.

Published in:

EMBO Reports, 2008, v. 9, n. 7, p. 648, doi. 10.1038/embor.2008.71

By:

de Wet, Heidi;
Proks, Peter;
Lafond, Mathilde;
Aittoniemi, Jussi;
Sansom, Mark S P;
Flanagan, Sarah E;
Pearson, Ewan R;
Hattersley, Andrew T;
Ashcroft, Frances M

Publication type:

Article

Extremely rare cause of congenital diarrhea: Enteric anendocrinosis.

Published in:

Pediatrics International, 2013, v. 55, n. 5, p. 661, doi. 10.1111/ped.12169

By:

Sayar, Ersin;
Islek, Ali;
Yilmaz, Aygen;
Akcam, Mustafa;
Flanagan, Sarah E;
Artan, Reha

Publication type:

Article

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1793, doi. 10.1093/hmg/ddl101

By:

Proks, Peter;
Arnold, Amanda L.;
Bruining, Jan;
Girard, Christophe;
Flanagan, Sarah E.;
Larkin, Brian;
Colclough, Kevin;
Hattersley, Andrew T.;
Ashcroft, Frances M.;
Ellard, Sian

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

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Published in:

2007

By:

Edghill, Emma L;
Gloyn, Anna L;
Goriely, Anne;
Harries, Lorna W;
Flanagan, Sarah E;
Rankin, Julia;
Hattersley, Andrew T;
Ellard, Sian

Publication type:

journal article

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

Published in:

2007

By:

Stanik, Juraj;
Gasperikova, Daniela;
Paskova, Magdalena;
Barak, Lubomir;
Javorkova, Jana;
Jancova, Emilia;
Ciljakova, Miriam;
Hlava, Peter;
Michalek, Jozef;
Flanagan, Sarah E;
Pearson, Ewan;
Hattersley, Andrew T;
Ellard, Sian;
Klimes, Iwar

Publication type:

journal article

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

Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group.

Published in:

Pediatric Diabetes, 2022, v. 23, n. 4, p. 457, doi. 10.1111/pedi.13333

By:

Hewat, Thomas I.;
Laver, Thomas W.;
Houghton, Jayne A. L.;
Männistö, Jonna M. E.;
Alvi, Sabah;
Brearey, Stephen P.;
Cody, Declan;
Dastamani, Antonia;
De los Santos La Torre, Miguel;
Murphy, Nuala;
Rami‐Merhar, Birgit;
Wefers, Birgit;
Huopio, Hanna;
Banerjee, Indraneel;
Johnson, Matthew B.;
Flanagan, Sarah E.

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