Works about DONOHUE syndrome
Results: 39
Ketosis Onset Type 2 Diabetes Had Better Islet β-Cell Function and More Serious Insulin Resistance.
- Published in:
- Journal of Diabetes Research, 2014, p. 1, doi. 10.1155/2014/510643
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- Publication type:
- Article
Insulin Resistance, Type 1 and Type 2 Diabetes, and Related Complications: Current Status and Future Perspective.
- Published in:
- 2014
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- Publication type:
- Editorial
Donohue Sendromu (Leprechaunism): Vaka Sunumu.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2012, v. 12, n. 4, p. 189, doi. 10.5222/j.child.2012.189
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- Publication type:
- Article
Images.
- Published in:
- Indian Pediatrics, 2015, v. 52, n. 8, p. 723, doi. 10.1007/s13312-015-0708-9
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- Publication type:
- Article
A Male with Extreme Subcutaneous Insulin Resistance: A Case Report.
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- Romanian Journal of Diabetes Nutrition & Metabolic Diseases, 2016, v. 23, n. 2, p. 209, doi. 10.1515/rjdnmd-2016-0025
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- Publication type:
- Article
Status of Homocysteine in Polycystic Ovary Syndrome (PCOS).
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- Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 2, p. 31, doi. 10.7860/JCDR/2014/7070.3999
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- Publication type:
- Article
Rabson Mendenhall Syndrome caused by a novel missense mutation.
- Published in:
- International Journal of Pediatric Endocrinology, 2016, v. 2016, p. 1, doi. 10.1186/s13633-016-0039-1
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- Publication type:
- Article
Genetics Corner: Donohue Syndrome in a Small for Gestational Age Infant with Hyperinsulinemia.
- Published in:
- Neonatology Today, 2022, v. 17, n. 3, p. 146, doi. 10.51362/neonatology.today/2022173146150
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- Publication type:
- Article
Chronic Kidney Disease and Nonalcoholic Fatty Liver Disease--Is There a Link?
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- Gastroenterology Research & Practice, 2014, p. 1, doi. 10.1155/2014/847539
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- Publication type:
- Article
MORFAN syndrome: A rarity but a reality!
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- Indian Journal of Dermatology, 2019, v. 64, n. 3, p. 231, doi. 10.4103/ijd.IJD_160_19
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- Publication type:
- Article
Development of Endometrial Carcinoma in a Patient with Leprechaunism (Donohue Syndrome).
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- Clinical Pediatric Endocrinology, 2013, v. 22, n. 2, p. 33, doi. 10.1297/cpe.22.33
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- Publication type:
- Article
Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation.
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- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 312, doi. 10.4274/jcrpe.galenos.2021.2021.0256
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- Publication type:
- Article
One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome.
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- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 2, p. 183, doi. 10.4274/jcrpe.5080
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- Publication type:
- Article
Hypertrophic cardiomyopathy in Donohue syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.
- Published in:
- 2015
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- Publication type:
- journal article
A Rare Case of Donohue Syndrome in a Neonate: A Case Report.
- Published in:
- 2021
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- Publication type:
- Case Study
Polycystic ovary morphology is associated with insulin resistance in women with polycystic ovary syndrome.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 4, p. 375, doi. 10.1111/cen.13380
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- Publication type:
- Article
Obstructive sleep apnoea and polycystic ovary syndrome: A comprehensive review of clinical interactions and underlying pathophysiology.
- Published in:
- Clinical Endocrinology, 2017, v. 87, n. 4, p. 313, doi. 10.1111/cen.13392
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- Publication type:
- Article
Inflammation but not obesity or insulin resistance is associated with increased plasma fibroblast growth factor 23 concentration in the elderly.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 6, p. 900, doi. 10.1111/cen.12759
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- Publication type:
- Article
Effect of maternal age at childbirth on insulin resistance: the 2010 Korean National Health and Nutrition Examination Survey.
- Published in:
- Clinical Endocrinology, 2015, v. 82, n. 6, p. 824, doi. 10.1111/cen.12712
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- Publication type:
- Article
Leprechaunism / Donohue syndrome / insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understanding.
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- European Journal of Pediatrics, 1997, v. 156, n. 4, p. 253
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- Publication type:
- Article
Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 1, p. 64, doi. 10.1159/000447090
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- Publication type:
- Article
Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 73, doi. 10.1159/000381624
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- Publication type:
- Article
Yeni bir insülin reseptör gen mutasyonunun tanımlandığı bir Donohue sendromu "Leprechaunism" olgusu.
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- Türk Pediatri Arşivi, 2017, v. 52, n. 4, p. 226, doi. 10.5152/TurkPediatriArs.2017.3193
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- Publication type:
- Article
Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 5, p. 1268, doi. 10.3390/ijms19051268
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- Publication type:
- Article
Rabson Mendenhall Syndrome-A Dilemma to Treat in a Resource Poor Country.
- Published in:
- 2016
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- Publication type:
- Case Study
Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/2023803
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- Publication type:
- Article
Donohue syndrome: A review of literature, case series, and anesthetic considerations.
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- Pediatric Anesthesia, 2018, v. 28, n. 1, p. 23, doi. 10.1111/pan.13273
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- Publication type:
- Article
AN INFANT WITH LEPRECHAUNISM, AMBIGUOUS GENITALIA AND POOR GLYCEMIC CONTROL: A MANAGEMENT CHALLENGE.
- Published in:
- 2014
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- Publication type:
- Case Study
Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1125, doi. 10.1007/s00431-012-1901-7
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- Publication type:
- Article
First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
- Published in:
- Molecular Biology Reports, 2016, v. 43, n. 3, p. 165, doi. 10.1007/s11033-016-3951-9
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- Publication type:
- Article
Amyotrophic lateral sclerosis Donohue syndrome.
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- Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. S1
- Publication type:
- Article
Anaesthesia recommendations for Donohue syndrome.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2023, v. 64, n. 1, p. S14, doi. 10.19224/ai2023.S014
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- Publication type:
- Article
Correct nomenclature is important, as highlighted by inappropriate interchangeability of "leprechaunism" with Donohue syndrome.
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- Pediatric Diabetes, 2021, v. 22, n. 2, p. 122, doi. 10.1111/pedi.13127
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- Publication type:
- Article
Enteroinsular hormones in two siblings with Donohue syndrome and complete leptin deficiency.
- Published in:
- Pediatric Diabetes, 2018, v. 19, n. 4, p. 675, doi. 10.1111/pedi.12619
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- Publication type:
- Article
Gastrointestinal dysmotility and pancreatic insufficiency in 2 siblings with Donohue syndrome.
- Published in:
- Pediatric Diabetes, 2017, v. 18, n. 8, p. 839, doi. 10.1111/pedi.12483
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- Publication type:
- Article
Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.
- Published in:
- Pediatric Diabetes, 2017, v. 18, n. 8, p. 917, doi. 10.1111/pedi.12508
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- Publication type:
- Article
Structural Basis and Genotype–Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
- Published in:
- Diabetes, 2017, v. 66, n. 10, p. 2713, doi. 10.2337/db17-0301
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- Publication type:
- Article
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
- Published in:
- 2017
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- Publication type:
- journal article