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PubMed This is a summary of 96 peer-reviewed journal articles Updated

Research & Literature

Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.

Explore the Literature Visualize citation networks across 96 referenced papers

Top Authors

Elisa De Franco
University of Exeter
Sarah Elizabeth Flanagan
University of Exeter
Fabrizio Barbetti
Bambino Gesù Children's Hospital
Andrew Tym Hattersley
University of Exeter
Sian Ellard
University of Exeter
Siri Atma W. Greeley
University of Chicago
Lisa R. Letourneau
University of Chicago
Michael Α. Gatzoulis
Guy's and St Thomas' NHS Foundation Trust
Dario Iafusco
University of Campania "Luigi Vanvitelli"
Wei Li
Guy's and St Thomas' NHS Foundation Trust

Top Institutions

Ranked by publications Top 10 institutions

References

References (96)
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    Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes.

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    PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

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

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    Journal of clinical research in pediatric endocrinology 2017; (9(3)):274-277 doi:10.4274/jcrpe.4494.

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    Pentalogy of Cantrell: Prenatal Diagnosis, Delivery, and Immediate Postnatal Surgical Repair.

    Araujo Júnior E, Carrilho MC, Toneto BR, Guilhen JCS

    Journal of neonatal surgery 2017; (6(2)):32 doi:10.21699/jns.v6i2.503.

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    Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects.

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    Genome-wide analysis of PDX1 target genes in human pancreatic progenitors.

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    Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.

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    Nutritional rehabilitation for children with congenital heart disease with left to right shunt.

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    Consensus recommendations for echocardiography in adults with congenital heart defects from the International Society of Adult Congenital Heart Disease (ISACHD).

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    Successful Treatment of Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar Status in an Infant with KCNJ11-Related Neonatal Diabetes Mellitus via Continuous Renal Replacement Therapy.

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    A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.

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    GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

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    A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA.

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    Interventional Cardiovascular Magnetic Resonance Imaging (iCMR) in an Adolescent with Pulmonary Hypertension.

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

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    Resilience outstrips the negative effect of caregiver burden on quality of life among parents of children with type 1 diabetes: An Application of Johnson-Neyman Analysis.

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    Discontinuity of Cardiac Follow-Up in Young People With Congenital Heart Disease Transitioning to Adulthood: A Systematic Review and Meta-Analysis.

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    Lack of specialist care is associated with increased morbidity and mortality in adult congenital heart disease: a population-based study.

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    Perinatal Cardiovascular Physiology and Recognition of Critical Congenital Heart Defects.

    Singh Y, Lakshminrusimha S

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    Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.

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    Utility of cardiac CT in infants with congenital heart disease: Diagnostic performance and impact on management.

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    Advances in Managing Transition to Adulthood for Adolescents With Congenital Heart Disease: A Practical Approach to Transition Program Design: A Scientific Statement From the American Heart Association.

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    Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.

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    American Association of Clinical Endocrinology Clinical Practice Guideline: Developing a Diabetes Mellitus Comprehensive Care Plan-2022 Update.

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    [Cardiac MRI of congenital heart disease : From fetus to adult].

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    Radiologie (Heidelberg, Germany) 2022; (62(11)):933-940 doi:10.1007/s00117-022-01062-y.

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    A practical guideline for performing a comprehensive transthoracic echocardiogram in the congenital heart disease patient: consensus recommendations from the British Society of Echocardiography.

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    Disparities in Loss to Follow-Up Among Adults With Congenital Heart Disease in North Carolina.

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    World journal for pediatric & congenital heart surgery 2022; (13(6)):707-715 doi:10.1177/21501351221111998.

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    Common diagnostic errors in adults with congenital heart disease.

    Celermajer DS, Baker DW, Cordina RL, et al.

    European heart journal 2023; (44(34)):3217-3227 doi:10.1093/eurheartj/ehac717.

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    Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.

    Ritivoiu ME, Drăgoi CM, Matei D, et al.

    Pharmaceutics 2023; (15(1)) doi:10.3390/pharmaceutics15010162.

    PMID: 36678791
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    Strategies to Aid Successful Transition of Adolescents with Congenital Heart Disease: A Systematic Review.

    Bassareo PP, Chessa M, Di Salvo G, et al.

    Children (Basel, Switzerland) 2023; (10(3)) doi:10.3390/children10030423.

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    Referral Order Placement Decreases Time to Transfer to Adult Congenital Heart Disease Care.

    Burger D, Denfeld QE, Evers PD, et al.

    Pediatric cardiology 2024; (45(7)):1424-1429 doi:10.1007/s00246-023-03164-3.

    PMID: 37103492
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    Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.

    Yue X, Luo Y, Wang J, Huang D

    Molecular biotechnology 2024; (66(3)):467-474 doi:10.1007/s12033-023-00761-8.

    PMID: 37204622
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    Clinical and molecular description of two cases of neonatal diabetes secondary to mutations in PDX1.

    Forero-Castro N, Ramirez LC, Celis JC, et al.

    Endocrinology, diabetes & metabolism case reports 2023; (2023(3)).

    PMID: 37417678
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    Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring.

    Lee MY, Gloyn AL, Maahs DM, Prahalad P

    Case reports in endocrinology 2023; (2023()):8825724 doi:10.1155/2023/8825724.

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    Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.

    Yasuhara J, Manivannan SN, Majumdar U, et al.

    Pediatric research 2024; (95(1)):146-155 doi:10.1038/s41390-023-02811-y.

    PMID: 37700164
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    AGA Clinical Practice Update on the Epidemiology, Evaluation, and Management of Exocrine Pancreatic Insufficiency: Expert Review.

    Whitcomb DC, Buchner AM, Forsmark CE

    Gastroenterology 2023; (165(5)):1292-1301 doi:10.1053/j.gastro.2023.07.007.

    PMID: 37737818
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    Exocrine Pancreatic Insufficiency in Children - Challenges in Management.

    Sankararaman S, Schindler T

    Pediatric health, medicine and therapeutics 2023; (14()):361-378 doi:10.2147/PHMT.S402589.

    PMID: 37908317
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    ESPEN-ESPGHAN-ECFS guideline on nutrition care for cystic fibrosis.

    Wilschanski M, Munck A, Carrion E, et al.

    Clinical nutrition (Edinburgh, Scotland) 2024; (43(2)):413-445 doi:10.1016/j.clnu.2023.12.017.

    PMID: 38169175
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    Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes.

    Al Homyani DK, Al Homaiani L

    AACE clinical case reports 2024; (10(1)):7-9 doi:10.1016/j.aace.2023.10.004.

    PMID: 38303767
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    The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

    Rapini N, Delvecchio M, Mucciolo M, et al.

    The Journal of clinical endocrinology and metabolism 2024; (109(9)):2349-2357 doi:10.1210/clinem/dgae095.

    PMID: 38408297
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    Effectiveness of family centred interventions for family caregivers: A systematic review and meta-analysis of randomized controlled trials.

    Wang Z, Yu S, Liu Y, et al.

    Journal of clinical nursing 2024; (33(5)):1958-1975 doi:10.1111/jocn.17091.

    PMID: 38439168
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    Two-Dimensional and Doppler trans-thoracic echocardiographic patterns of suspected pediatric heart diseases at Tibebe--Ghion specialized Teaching Hospital and Adinas General Hospital, Bahir Dar, North-west Ethiopia:-An experience from an LMIC.

    Gelaw TT, Yehuala AA, Mengste SZ, et al.

    PloS one 2024; (19(3)):e0292694 doi:10.1371/journal.pone.0292694.

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    A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes.

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    Hormone research in paediatrics 2025; (98(3)):282-288 doi:10.1159/000536621.

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    Care for the caregiver: an exploration of caregiver burden of children with chronic medical conditions at a tertiary care hospital in Karachi, Pakistan - a mixed-methods study.

    Saeed S, Malik MGR, Khan MH, et al.

    BMJ open 2024; (14(5)):e083088 doi:10.1136/bmjopen-2023-083088.

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    GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis.

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    Insulin Delivery Technology for Treatment of Infants with Neonatal Diabetes Mellitus: A Systematic Review.

    Panza R, Cattivera V, Colella J, et al.

    Diabetes therapy : research, treatment and education of diabetes and related disorders 2024; (15(11)):2293-2308 doi:10.1007/s13300-024-01653-z.

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