Published in JIMD Rep on February 12, 2013
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol (2010) 2.52
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol (2000) 2.01
Long-term outcome in pyridoxine-dependent epilepsy. Dev Med Child Neurol (2012) 1.62
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab (2011) 1.61
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain (2010) 1.47
Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child (1999) 1.42
Variability of phenotype in two sisters with pyridoxine dependent epilepsy. Can J Neurol Sci (2012) 1.40
Familial intrauterine convulsions in pyridoxine dependency. Arch Dis Child (1967) 1.28
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat (2007) 1.26
Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. Ann Neurol (1985) 1.18
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis (2010) 1.08
Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol (1996) 1.06
Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child (2005) 1.06
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol (2007) 1.02
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia (2008) 1.01
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Arch Dis Child (2006) 1.00
Dose response, coasting, and differential fiber vulnerability in human toxic neuropathy: a prospective study of pyridoxine neurotoxicity. Neurology (1992) 0.95
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. Epilepsia (2009) 0.94
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab (2012) 0.93
Pyridoxine-dependent seizures and cognition in adulthood. Dev Med Child Neurol (2003) 0.90
Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol (2007) 0.87
Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. Can J Neurol Sci (1995) 0.82
Longitudinal MRI findings in pyridoxine-dependent seizures. Neurology (1998) 0.81
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. Pediatr Neurol (2011) 0.80
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med (2004) 8.62
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med (2006) 7.31
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab (2008) 3.80
Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A (2007) 3.77
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med (2007) 3.17
AIP mutation in pituitary adenomas in the 18th century and today. N Engl J Med (2011) 3.14
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet (2008) 3.06
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes (2007) 3.00
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care (2007) 2.62
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol (2010) 2.60
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med (2009) 2.53
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med (2014) 2.47
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat (2009) 2.29
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers (2010) 2.09
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2009) 2.07
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care (2012) 1.95
Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet (2011) 1.94
The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes (2008) 1.88
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab (2011) 1.87
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science (2008) 1.84
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet (2006) 1.83
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet (2007) 1.73
Transcription factor HNF1beta and novel partners affect nephrogenesis. Kidney Int (2008) 1.73
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med (2011) 1.68
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes (2006) 1.66
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J Clin Invest (2009) 1.60
Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet (2005) 1.52
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract (2004) 1.51
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. Diabetes Care (2003) 1.50
Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatr Diabetes (2010) 1.48
Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care (2011) 1.48
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab (2007) 1.47
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3. Diabetes (2011) 1.47
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int (2003) 1.39
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care (2002) 1.38
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab (2004) 1.38
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A (2010) 1.36
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab (2009) 1.36
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes (2012) 1.36
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab (2009) 1.35
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes (2003) 1.33
Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica (2008) 1.33
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes (2010) 1.30
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A (2008) 1.30
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2006) 1.29
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol (2009) 1.29
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord (2010) 1.28
High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care (2011) 1.28
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes (2008) 1.27
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol (2013) 1.26
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab (2013) 1.26
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A (2008) 1.25
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet (2006) 1.25
Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet (2006) 1.25
Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care (2012) 1.25
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol (2009) 1.23
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. Eur J Paediatr Neurol (2009) 1.21
Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet (2004) 1.19
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet (2007) 1.19
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int (2002) 1.18
A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes (2003) 1.17
Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes (2009) 1.15
Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. Diabetes Care (2005) 1.14
Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet (2012) 1.14
The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet (2005) 1.13
High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care (2005) 1.12
No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. Diabetes Care (2003) 1.11
Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proc Natl Acad Sci U S A (2007) 1.11
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem (2005) 1.11
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. Am J Med Genet A (2011) 1.11
Imaging patients with suspected brain tumour: guidance for primary care. Br J Gen Pract (2008) 1.10
Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options. Horm Res Paediatr (2013) 1.10
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet (2013) 1.09
Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol (2002) 1.08
Childhood presentation of COL4A1 mutations. Dev Med Child Neurol (2012) 1.08
An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes (2007) 1.06
SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain (2013) 1.05
ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes (2014) 1.05
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat (2013) 1.05
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care (2008) 1.05
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. Eur J Endocrinol (2008) 1.05
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes (2011) 1.04
Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet (2014) 1.03
Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. Diabetes Care (2003) 1.03
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. Pediatr Diabetes (2012) 1.02
Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS One (2013) 1.02
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. J Am Soc Nephrol (2003) 1.02
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat (2010) 1.01
Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease. Nephrol Dial Transplant (2007) 1.01
Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay. Diabetes (2004) 1.01
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. Diabetes (2009) 1.01
Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. Diabetes Care (2004) 1.00