Published in Am J Hum Genet on July 01, 1999
Congenital and idiopathic scoliosis: clinical and genetic aspects. Clin Med Res (2003) 1.31
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet (2003) 1.19
Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet (2004) 1.19
The mouse notches up another success: understanding the causes of human vertebral malformation. Mamm Genome (2011) 0.86
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family. Neuropsychiatr Dis Treat (2011) 0.84
Genomic regions associated with kyphosis in swine. BMC Genet (2010) 0.78
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. Scoliosis (2007) 0.78
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. J Med Life (2013) 0.75
Myeloproliferation and hematopoietic stem cell dysfunction due to defective Notch receptor modification by O-fucose glycans. Semin Immunopathol (2012) 0.75
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science (1987) 12.20
Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping. Biotechniques (1996) 8.92
The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries. Nat Genet (1998) 1.96
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet (1996) 1.81
Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism. Am J Med (1968) 1.35
Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton: evidence for unique and redundant function. Dev Biol (1995) 1.32
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet (1995) 1.30
Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity? J Med Genet (1978) 1.29
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet (1981) 1.21
Trisomy 8: an international study of 70 patients. Birth Defects Orig Artic Ser (1977) 1.13
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. Am J Med Genet (1986) 1.13
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. J Bone Joint Surg Br (1988) 1.09
[Polydysspondylic syndrome due to 14-15 translocation and dyschondrosteosis in the same subject. Familial segregation]. C R Hebd Seances Acad Sci (1963) 1.08
Spondylo-thoracic dysplasia in three sisters. Dev Med Child Neurol (1973) 1.07
Recessive spondylocostal dysostosis: two new cases. Clin Genet (1978) 1.01
Spondylocostal dysostosis in South African sisters. Clin Genet (1981) 0.99
The autosomal recessive form of spondylocostal dysostosis. Radiology (1974) 0.98
[Costovertebral dysostosis and congenital heart disease. Four case-reports (author's transl)]. Ann Pediatr (Paris) (1982) 0.96
Synteny-defined candidate genes for congenital and idiopathic scoliosis. Am J Med Genet (1999) 0.96
Costovertebral dysplasia. Birth Defects Orig Artic Ser (1974) 0.93
Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry. Am J Med Genet (1994) 0.91
Evidence for autosomal recessive inheritance of costovertebral dysplasia. Clin Genet (1971) 0.90
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. Clin Dysmorphol (1996) 0.89
Congenital spinal deformity in a three generation family. J Med Genet (1988) 0.85
[Spondylo-vertebral and spondylo-thoracic dysostosis. Clinical, radiological and genetic study, apropos of 7 observations]. Pediatrie (1978) 0.85
Hereditary costovertebral dysplasia with malignant cerebral tumour. J Med Genet (1983) 0.85
Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects. J Med Genet (1997) 0.84
Human PAX gene expression and development of the vertebral column. Clin Orthop Relat Res (1994) 0.84
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. Clin Genet (1989) 0.83
Spondylocostal dysostosis: dominant type. Am J Med Genet (1990) 0.82
Identical twins with an autosomal recessive form of spondylocostal dysostosis. Clin Genet (1992) 0.80
Spondylo-costal dysplasia. A further report--review of 14 cases. Rofo (1984) 0.79
Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation. Clin Dysmorphol (1997) 0.79
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. J Med Genet (1991) 0.79
The undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue? Clin Dysmorphol (1994) 0.77
A gene map of the human genome. Science (1996) 14.32
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature (1996) 5.32
Synthesis and metabolism of uracil-containing deoxyribonucleic acid in Escherichia coli. J Bacteriol (1981) 4.66
Validation of self-reported chronic conditions and health services in a managed care population. Am J Prev Med (2000) 4.62
Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia (2010) 4.13
Distribution of NHS funds between fundholding and non-fundholding practices. BMJ (1994) 4.05
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet (2001) 3.26
Immediate effects of intravenous verapamil in cardiac arrhythmias. Br Med J (1972) 3.05
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet (1999) 2.63
Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet (1998) 2.53
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia (2008) 2.44
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet (2000) 2.28
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet (2005) 2.24
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia (2006) 2.24
Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with type 2 diabetes: a go-DARTS study. Clin Pharmacol Ther (2010) 2.22
Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population. Diabetologia (2006) 2.14
A rapid and sensitive high pressure liquid chromatography assay for deoxyribonucleoside triphosphates in cell extracts. Anal Biochem (1979) 2.13
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia (2013) 2.13
The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia (2002) 1.99
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet (2001) 1.98
Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes. Diabetes (1999) 1.97
The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia (2012) 1.89
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology (2007) 1.89
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int (2000) 1.87
Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med (2008) 1.82
First UK survey of paediatric type 2 diabetes and MODY. Arch Dis Child (2004) 1.70
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia (2009) 1.70
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med (2011) 1.68
FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians. Diabetologia (2008) 1.65
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet (2000) 1.64
Deoxyribonucleoside triphosphate imbalance. 5-Fluorodeoxyuridine-induced DNA double strand breaks in mouse FM3A cells and the mechanism of cell death. J Biol Chem (1987) 1.64
Hypoglycaemic counter-regulation at normal blood glucose concentrations in patients with well controlled type-2 diabetes. Lancet (2000) 1.61
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest (1999) 1.60
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes (1996) 1.60
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia (2005) 1.60
The laminopathies: a clinical review. Clin Genet (2006) 1.59
Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity. Diabetologia (2000) 1.57
Intraregional variation in treatment of end stage renal failure. Br Med J (Clin Res Ed) (1987) 1.55
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia (2012) 1.55
Heritability estimates for beta cell function and features of the insulin resistance syndrome in UK families with an increased susceptibility to type 2 diabetes. Diabetologia (2004) 1.54
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med (2009) 1.54
SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia (2012) 1.54
C-reactive protein levels and body mass index: elucidating direction of causation through reciprocal Mendelian randomization. Int J Obes (Lond) (2010) 1.53
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia (2007) 1.52
The clinical utility of C-peptide measurement in the care of patients with diabetes. Diabet Med (2013) 1.50
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia (2013) 1.48
Amplification of PCR products in excess of 600 base pairs using DNA extracted from decalcified, paraffin wax embedded bone marrow trephine biopsies. Mol Pathol (2000) 1.48
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes (2001) 1.47
Impact of infants born at the threshold of viability on the neonatal mortality rate in Colorado. J Perinatol (2000) 1.44
Hyperinsulinaemic hypoglycaemia. Arch Dis Child (2009) 1.44
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series. Diabet Med (2014) 1.42
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol (2010) 1.39
Common genetic variation in the gene encoding interleukin-1-receptor antagonist (IL-1RA) is associated with altered circulating IL-1RA levels. Genes Immun (2007) 1.39
Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol (2001) 1.36
Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab (2001) 1.36
Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med (2000) 1.34
Factors affecting low birthweight after assisted reproduction technology: difference between transfer of fresh and cryopreserved embryos suggests an adverse effect of oocyte collection. Hum Reprod (2008) 1.34
A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects. Genes Immun (2007) 1.33
Urine C-peptide creatinine ratio is an alternative to stimulated serum C-peptide measurement in late-onset, insulin-treated diabetes. Diabet Med (2011) 1.33
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia (2000) 1.31
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet (2005) 1.31
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes (1997) 1.29
Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med (2008) 1.29
Association of low birth weight with beta cell function in the adult first degree relatives of non-insulin dependent diabetic subjects. BMJ (1993) 1.27
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet (2001) 1.26
The effect of obesity on glycaemic response to metformin or sulphonylureas in Type 2 diabetes. Diabet Med (2006) 1.26