Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
about
The Diagnosis and Management of Hyperinsulinaemic HypoglycaemiaSevere Unresponsive Hypoglycemia Associated with Neuroendocrine Tumor of Unknown Primary Site - 18 Years after Rectal Cancer Surgery. Case Report.Update on neonatal hypoglycemia.Congenital hyperinsulinism: current status and future perspectives.Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.Genotype and phenotype correlations in 417 children with congenital hyperinsulinismClinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersMonogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.Liver glucose metabolism in humans.Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.A dizygotic twin pregnancy in a MODY 3-affected woman.Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells.Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.Diabetes Induces Aberrant DNA Methylation in the Proximal Tubules of the Kidney.Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management.Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.An Evaluation of Growth Hormone and IGF-1 Responses in Neonates with Hyperinsulinaemic Hypoglycaemia.Congenital Hyperinsulinism: Diagnosis and Treatment Update.Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.Congenital hyperinsulinism: global and Japanese perspectives.Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.Loss-of-function mutations in Zn-finger DNA-binding domain of HNF4A cause aberrant transcriptional regulation in liver cancer.Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic and gene variantsThe diagnosis and management of monogenic diabetes in children and adolescents
P2860
Q26796476-C3811644-6EDC-4419-80BC-BD19C005C788Q33572417-A3F9971E-0C25-44AA-81F0-1EC996FD9BBEQ33575385-45E74F91-F253-461F-9470-084A67BF62FEQ33964788-A08EB83C-92E9-4A82-A552-04FBCBC63EA7Q34837985-98377BA4-9457-42A6-BDD4-A3CDF2C69163Q35949543-D02C7AF1-6A0A-44FE-9C3C-FAFC5B31B52AQ36589427-EDD5E560-46CB-49D0-A107-BE47A4A6D8F8Q36688839-F8176062-0BE3-4C61-B10E-4436166329B8Q36716020-1460742C-E7D2-4CD5-BD0B-B449286237CCQ36960085-354D2EA9-D4D7-4EEF-9BB8-CAD4FED9A2BFQ37599564-DD0427B9-0F85-4273-A0B6-84B713380579Q37626792-A5E36D3F-F7F5-45FF-AB17-D96C938BACD2Q38076506-1C472878-F5A5-460F-B7D7-1B19CA0433B1Q38885083-206358DB-A032-453F-95E7-EF0007498B50Q39903154-2C4E0784-3C4F-46B5-AFF1-FDF23DED022AQ40123629-3D1F6CF7-A338-4CA5-A5EF-3D6FA0E5CF37Q41555063-55FCF574-4AB5-4E31-A09B-13634D3FCFD8Q41580606-BE8821B7-D220-468E-8919-3E226216C9E0Q41632054-1D521364-C5BF-45F7-80B0-8D16044DAFFEQ41855430-5731EC22-B2C1-41BA-A962-A085923BFEE6Q42197023-7823E336-EFA6-406E-A4CD-7C09530BF9C5Q42290551-4DAC35D3-3716-4B17-9CF1-1CC86248A64BQ42921457-808CEFC4-B130-44C9-881C-AFBAB1C71BCCQ47894084-DCAD5412-979F-4CCB-BBEA-2F1F04752B81Q49653037-69A23604-CC83-40F4-BFEA-F4948719912AQ50589680-1EBC85E6-AB63-4F7E-9C4F-67DB7D01DD43Q50882826-C3970E79-2752-4E19-AC64-9B9E490E7B9DQ51127204-9E97A5DB-0D08-4E06-964D-B12B8F8B9FC7Q51261501-37B3231C-6FB3-479F-B9E7-670DE1DD66C6Q52729691-53F5BE2C-B6D8-4C6B-A62B-D3CA3EF3EB23Q55343846-54C7A0F4-432C-4A37-9A7A-A66C0A992568Q55644927-B48999C8-744A-44E6-A893-BBA31FAC2FE6Q56641115-BFADA7B8-AE07-4727-8068-B33AFBB883CCQ57303417-84387BE8-5631-4AD6-A42F-96803D9BF78A
P2860
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Novel presentations of congeni ...... e MODY genes: HNF1A and HNF4A.
@en
type
label
Novel presentations of congeni ...... e MODY genes: HNF1A and HNF4A.
@en
prefLabel
Novel presentations of congeni ...... e MODY genes: HNF1A and HNF4A.
@en
P2093
P2860
P356
P1476
Novel presentations of congeni ...... he MODY genes: HNF1A and HNF4A
@en
P2093
Bernard Kaplan
Diana E Stanescu
Nkecha Hughes
P2860
P304
P356
10.1210/JC.2012-1356
P407
P577
2012-07-16T00:00:00Z