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In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 102, doi. 10.1186/s13023-014-0183-8
- By:
- Publication type:
- Article
Congenital hyperinsulinism: current trends in diagnosis and therapy.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Vitamin D receptor gene polymorphisms are associated with obesity in type 2 diabetic subjects with early age of onset.
- Published in:
- European Journal of Endocrinology, 2001, v. 145, n. 2, p. 181
- By:
- Publication type:
- Article
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
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- Publication type:
- Article
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
- Published in:
- Kidney International, 2011, v. 80, n. 7, p. 768, doi. 10.1038/ki.2011.225
- By:
- Publication type:
- Article
CXCR4 WHIM syndrome is a cancer predisposition condition for virus‐induced malignancies.
- Published in:
- British Journal of Haematology, 2024, v. 204, n. 4, p. 1383, doi. 10.1111/bjh.19373
- By:
- Publication type:
- Article
Leukaemic transformation in a 10‐year‐old girl with SRP54 congenital neutropenia.
- Published in:
- British Journal of Haematology, 2022, v. 198, n. 6, p. 1069, doi. 10.1111/bjh.18334
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- Publication type:
- Article
An inherited gain‐of‐function risk allele in EPOR predisposes to familial JAK2<sup>V617F</sup> myeloproliferative neoplasms.
- Published in:
- British Journal of Haematology, 2022, v. 198, n. 1, p. 131, doi. 10.1111/bjh.18165
- By:
- Publication type:
- Article
Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.
- Published in:
- British Journal of Haematology, 2017, v. 179, n. 4, p. 557, doi. 10.1111/bjh.14887
- By:
- Publication type:
- Article
Clinical Characteristics and Diagnostic Criteria of Maturity-Onset Diabetes Of The Young (MODY) due to Molecular Anomalies of the HNF1A Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. E1346, doi. 10.1210/jc.2011-0268
- By:
- Publication type:
- Article
Familial focal congenital hyperinsulinism.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013630
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- Publication type:
- Article
Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion.
- Published in:
- PLoS ONE, 2008, v. 3, n. 12, p. 1, doi. 10.1371/journal.pone.0003850
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- Publication type:
- Article
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Exonic Duplication of the Hepatocyte Nuclear Factor-1β Gene (Transcription Factor 2, Hepatic) as a Cause of Maturity Onset Diabetes of the Young Type 5.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 7, p. 2844, doi. 10.1210/jc.2007-0286
- By:
- Publication type:
- Article
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Congenital Hyperinsulinism: Pancreatic [<sup>18</sup>F]Fluoro-L-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 3, p. 933, doi. 10.1210/jc.2005-1713
- By:
- Publication type:
- Article
Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 2, p. 925, doi. 10.1210/jc.2003-030941
- By:
- Publication type:
- Article
New somatic BRAF splicing mutation in Langerhans cell histiocytosis.
- Published in:
- 2017
- By:
- Publication type:
- Letter to the Editor
Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 138, doi. 10.1007/s004390000345
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- Publication type:
- Article
Clinical utility gene card for: Maturity-onset diabetes of the young.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.14
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- Publication type:
- Article
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 824, doi. 10.1038/sj.ejhg.5201629
- By:
- Publication type:
- Article
Successful treatment of congenital hyperinsulinism with long-acting release octreotide.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 333, doi. 10.1530/EJE-11-0874
- By:
- Publication type:
- Article
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1β Mutations.
- Published in:
- Annals of Internal Medicine, 2004, v. 140, n. 7, p. 510
- By:
- Publication type:
- Article
Coexistence in the Same Family of Both Focal and Diffuse Forms of Hyperinsulinism.
- Published in:
- Diabetes Care, 2007, v. 30, n. 6, p. 1590, doi. 10.2337/dc06-2327
- By:
- Publication type:
- Article
Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The added value of [<sup>18</sup>F]fluoro- L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children.
- Published in:
- European Journal of Nuclear Medicine & Molecular Imaging, 2007, v. 34, n. 12, p. 2120, doi. 10.1007/s00259-007-0498-y
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- Publication type:
- Article
Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency.
- Published in:
- Clinical Endocrinology, 2023, v. 98, n. 3, p. 315, doi. 10.1111/cen.14842
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- Publication type:
- Article
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 894, doi. 10.1093/hmg/ddae027
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- Publication type:
- Article
Cohen syndrome is associated with major glycosylation defects.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2391, doi. 10.1093/hmg/ddt630
- By:
- Publication type:
- Article
Inadequate Cortisol Response to the Tetracosactide (Synacthen®) Test in Non-Classic Congenital Adrenal Hyperplasia: An Exception to the Rule?
- Published in:
- Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 262, doi. 10.1159/000369901
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- Publication type:
- Article
Post‐COVID‐19 severe neutropenia.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 5, p. 1, doi. 10.1002/pbc.28866
- By:
- Publication type:
- Article
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
- Published in:
- Pediatric Blood & Cancer, 2014, v. 61, n. 6, p. 1041, doi. 10.1002/pbc.24964
- By:
- Publication type:
- Article
The Type and the Position of HNF1A Mutation Modulate Age at Diagnosis of Diabetes in Patients with Maturity-Onset Diabetes of the Young (MODY)-3.
- Published in:
- Diabetes, 2008, v. 57, n. 2, p. 503, doi. 10.2337/db07-0859
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- Publication type:
- Article
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Infantile Spasms as an Epileptic Feature of DEND Syndrome Associated With an Activating Mutation in the Potassium Adenosine Triphosphate (ATP) Channel, Kir6.2.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 9, p. 1147, doi. 10.1177/0883073807306272
- By:
- Publication type:
- Article
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/6661013
- By:
- Publication type:
- Article
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 408, doi. 10.1002/humu.24164
- By:
- Publication type:
- Article
Update of variants identified in the pancreatic β‐cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 884, doi. 10.1002/humu.23995
- By:
- Publication type:
- Article
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1510, doi. 10.1002/humu.22392
- By:
- Publication type:
- Article
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 86, doi. 10.1002/humu.21610
- By:
- Publication type:
- Article
Update on mutations in glucokinase ( GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
- Published in:
- 2009
- By:
- Publication type:
- Other
Update of mutations in the genes encoding the pancreatic beta-cell K<sub>ATP</sub> channel subunits Kir6.2 ( KCNJ11) and sulfonylurea receptor 1 ( ABCC8) in diabetes mellitus and hyperinsulinism.
- Published in:
- 2009
- By:
- Publication type:
- Other
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 10, p. 3430, doi. 10.1093/ndt/gfq380
- By:
- Publication type:
- Article
Germline hepatocyte nuclear factor 1α and 1β mutations in renal cell carcinomas.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 5, p. 603, doi. 10.1093/hmg/ddi057
- By:
- Publication type:
- Article
Identification of MPL R102P Mutation in Hereditary Thrombocytosis.
- Published in:
- Frontiers in Endocrinology, 2017, p. 1, doi. 10.3389/fendo.2017.00235
- By:
- Publication type:
- Article
Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.
- Published in:
- Frontiers in Endocrinology, 2017, p. 1, doi. 10.3389/fendo.2017.00234
- By:
- Publication type:
- Article