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Importance of genetic testing and recognition of neonatal diabetes: a case report.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
A diagnosis of monogenic neonatal diabetes can improve treatment and glycaemic control.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Differential diagnosis: identifying people with monogenic diabetes.
- Published in:
- 2010
- By:
- Publication type:
- Journal Article
Differential diagnosis: Identifying people with monogenic diabetes.
- Published in:
- Journal of Diabetes Nursing, 2010, v. 14, n. 9, p. 342
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- Publication type:
- 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
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- Publication type:
- Article
Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1565, doi. 10.1007/s00431-013-2110-8
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- Publication type:
- Article
A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
- Published in:
- 2008
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- Publication type:
- journal article
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
- Published in:
- EMBO Molecular Medicine, 2009, v. 1, n. 3, p. 166, doi. 10.1002/emmm.200900018
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- 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
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- Publication type:
- Article
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 1, p. 82, doi. 10.4274/jcrpe.galenos.2018.2018.0077
- By:
- Publication type:
- Article
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 3, p. 279, doi. 10.4274/jcrpe.5335
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- 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
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- 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
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- 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:
- 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
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- Publication type:
- Article
A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2016, p. 478, doi. 10.4274/jcrpe.2773
- By:
- Publication type:
- Article
Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 2, p. 197, doi. 10.4274/jcrpe.2408
- By:
- Publication type:
- Article
Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI).
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Successful Transfer from Insulin to Oral Sulphonylurea in an Infant and His Mother with Monogenic Diabetes Due to a Heterozygous Missense Mutation in the ABCC8 Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic Hypoglycemia.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Severe Congenital Insulin Resistance Syndrome Due to a Compound Heterozygous c.836G>A & c.1268+2T>A Mutation in Insulin Receptor (INSR) Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Genotype-Phenotype Correlation and Follow- Up Features in Cases with Congenital Hyperinsulinism (CHI).
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 91
- By:
- Publication type:
- Article
Successful Transfer from Insulin to Oral Sulphonylurea in an Infant and His Mother with Monogenic Diabetes Due to a Heterozygous Missense Mutation in the ABCC8 Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 86
- By:
- Publication type:
- Article
Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic Hypoglycemia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 86
- By:
- Publication type:
- Article
Severe Congenital Insulin Resistance Syndrome Due to a Compound Heterozygous c.836G>A & c.1268+2T>A Mutation in Insulin Receptor (INSR) Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 85
- By:
- Publication type:
- Article
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Genetics and Clinical Characteristics of Neonatal Diabetes.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 7
- By:
- Publication type:
- Article
Clinical and Molecular Characterisation of Patients with Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 5
- By:
- Publication type:
- Article
RET gene mutations are not a common cause of congenital solitary functioning kidney in adults.
- Published in:
- NDT Plus, 2009, v. 2, n. 2, p. 183, doi. 10.1093/ndtplus/sfn204
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- Publication type:
- Article
Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2021, v. 27, n. 4, p. 287, doi. 10.5114/pedm.2021.107719
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- Publication type:
- Article
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0547-3
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- Publication type:
- Article
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 25, doi. 10.1186/1750-1172-7-25
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- Publication type:
- Article
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 6, p. 2285, doi. 10.1093/brain/awac461
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- Publication type:
- Article
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinical and molecular characterization of children with neonatal diabetes mellitus at a tertiary care center in northern India.
- Published in:
- Indian Pediatrics, 2017, v. 54, n. 6, p. 467, doi. 10.1007/s13312-017-1049-7
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- Publication type:
- Article
Hyperinsulinemic hypoglycemia of infancy due to novel HADH mutation in two siblings.
- Published in:
- Indian Pediatrics, 2016, v. 53, n. 10, p. 912, doi. 10.1007/s13312-016-0958-1
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- Publication type:
- Article
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1674
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- Publication type:
- Article
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01082-2
- By:
- Publication type:
- Article
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00873-3
- By:
- Publication type:
- Article
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00850-w
- By:
- Publication type:
- Article
Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2403, doi. 10.1002/ajmg.a.61781
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- Publication type:
- Article
Cover Image, Volume 176A, Number 11, November 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. i, doi. 10.1002/ajmg.a.61022
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- Publication type:
- Article
Cover Image, Volume 176A, Number 9, September 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1, doi. 10.1002/ajmg.a.40660
- By:
- Publication type:
- Article
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1950, doi. 10.1002/ajmg.a.40484
- By:
- Publication type:
- Article
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 602, doi. 10.1002/ajmg.a.37419
- By:
- Publication type:
- Article
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2244, doi. 10.1002/ajmg.a.36073
- By:
- Publication type:
- Article
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2821, doi. 10.1002/ajmg.a.34251
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- 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:
- Publication type:
- Article
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 947, doi. 10.1038/ng.2670
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- 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
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- Publication type:
- Article