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Views of children with diabetes from underserved communities, and their families on diabetes, glycaemic control and healthcare provision: A qualitative evidence synthesis.
- Published in:
- Diabetic Medicine, 2023, v. 40, n. 11, p. 1, doi. 10.1111/dme.15197
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- Publication type:
- Article
An effective and cost‐saving structured education program teaching dynamic glucose management strategies to a socio‐economically deprived cohort with type 1 diabetes in a VIRTUAL setting.
- Published in:
- Pediatric Diabetes, 2022, v. 23, n. 7, p. 1045, doi. 10.1111/pedi.13381
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- Article
Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.
- Published in:
- European Journal of Endocrinology, 2021, v. 184, n. 5, p. K15, doi. 10.1530/EJE-20-0152
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- Article
DYNAMIC: Dynamic glucose management strategies delivered through a structured education program improves time in range in a socioeconomically deprived cohort of children and young people with type 1 diabetes with a history of hypoglycemia.
- Published in:
- Pediatric Diabetes, 2021, v. 22, n. 2, p. 249, doi. 10.1111/pedi.13155
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- Article
Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children.
- Published in:
- European Journal of Endocrinology, 2019, v. 180, n. 3, p. 213, doi. 10.1530/EJE-18-0854
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- Article
Treatment adherence and BMI reduction are key predictors of HbA1c 1 year after diagnosis of childhood type 2 diabetes in the United Kingdom.
- Published in:
- Pediatric Diabetes, 2018, v. 19, n. 8, p. 1393, doi. 10.1111/pedi.12761
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- Publication type:
- Article
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 390, doi. 10.1002/mgg3.296
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- Article
Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.
- Published in:
- 2016
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- Publication type:
- journal article
Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 814, doi. 10.1093/hmg/ddu499
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- Publication type:
- Article
A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 11/12, p. 1101, doi. 10.1515/jpem-2014-0025
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- Article
One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2014, v. 6, n. 3, p. 169, doi. 10.4274/jcrpe.1404
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- Article
An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 1021, doi. 10.1515/jpem-2014-0048
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- Publication type:
- Article
A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 7/8, p. 731, doi. 10.1515/jpem-2014-0011
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- Publication type:
- Article
A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 3/4, p. 323, doi. 10.1515/jpem-2013-0314
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- Publication type:
- Article
Clinical utility gene card for: Alström Syndrome - update 2013.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.61
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- Article
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
- Published in:
- BMC Pediatrics, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2431-13-130
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- Article
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.
- Published in:
- Clinical Endocrinology, 2013, v. 79, n. 2, p. 275, doi. 10.1111/cen.12127
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- Article
Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetes.
- Published in:
- Pediatric Diabetes, 2013, v. 14, n. 3, p. 181, doi. 10.1111/pedi.12008
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- Publication type:
- Article
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.
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- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 347, doi. 10.1038/ejhg.2012.154
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- Publication type:
- Article
Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 2, p. 203, doi. 10.1093/hmg/dds400
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- Publication type:
- Article
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
- Published in:
- 2013
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- Publication type:
- journal article
Clinical utility gene card for: Alström syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.72
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- Publication type:
- Article
Premature adrenarche: novel lessons from early onset androgen excess.
- Published in:
- European Journal of Endocrinology, 2011, v. 165, n. 2, p. 189, doi. 10.1530/EJE-11-0223
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- Publication type:
- Article
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. 858, doi. 10.1002/humu.21261
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- Publication type:
- Article
Maternal but Not Paternal Association of Ambulatory Blood Pressure With Albumin Excretion in Young Offspring With Type 1 Diabetes.
- Published in:
- Diabetes Care, 2010, v. 33, n. 2, p. 366, doi. 10.2337/dc09-1152
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- Publication type:
- Article
Prevalence of Abnormal Lipid Profiles and the Relationship With the Development of Microalbuminuria in Adolescents With Type 1 Diabetes.
- Published in:
- Diabetes Care, 2009, v. 32, n. 4, p. 658, doi. 10.2337/dc08-1641
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- Publication type:
- Article
Hearing Impairment in Genotyped Wolfram Syndrome Patients.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2008, v. 117, n. 7, p. 494, doi. 10.1177/000348940811700704
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- Publication type:
- Article
Sodium-potassium ATPase β1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 190
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- Publication type:
- Article
Functional Analysis of Monocarboxylate Transporter 8 Mutations Identified in Patients with X-Linked Psychomotor Retardation and Elevated Serum Triiodothyronine
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 6, p. 2378, doi. 10.1210/jc.2006-2570
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- Article
Rising Incidence of Type 2 Diabetes in Children in the U.K.
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- Diabetes Care, 2007, v. 30, n. 5, p. 1097, doi. 10.2337/dc06-1813
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- Publication type:
- Article
The Birmingham Registry for Twin and Heritability Studies (BiRTHS).
- Published in:
- 2006
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- Publication type:
- journal article
Thiamine-responsive megaloblastic anaemia syndrome: Long-term follow-up and mutation analysis of seven families.
- Published in:
- Acta Paediatrica, 2006, v. 95, n. 1, p. 99, doi. 10.1080/08035250500323715
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- Publication type:
- Article
The emergence of type 2 diabetes in childhood.
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- Annals of Clinical Biochemistry, 2004, v. 41, n. 1, p. 10, doi. 10.1258/000456304322664654
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- Article
Wolfram Syndrome.
- Published in:
- Reviews in Endocrine & Metabolic Disorders, 2003, v. 4, n. 1, p. 53
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- Article
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
- Published in:
- Human Mutation, 2001, v. 17, n. 5, p. 357, doi. 10.1002/humu.1110
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- Publication type:
- Article