Published in Am J Med Genet on July 03, 1995
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Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet (1994) 2.55
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Estimated glomerular filtration rate, albuminuria and mortality in type 2 diabetes: the Casale Monferrato study. Diabetologia (2007) 2.01
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet (1999) 2.00
The CREATE project: development of certified reference materials for allergenic products and validation of methods for their quantification. Allergy (2008) 1.96
How to measure insulin sensitivity. J Hypertens (1998) 1.96
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet (2000) 1.92
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Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet (1995) 1.89
Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting. Gene Ther (2002) 1.82
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet (1995) 1.82
Early-onset type 2 diabetes in obese white subjects is characterised by a marked defect in beta cell insulin secretion, severe insulin resistance and a lack of response to aerobic exercise training. Diabetologia (2007) 1.82
Roux-en-Y gastric bypass and sleeve gastrectomy: mechanisms of diabetes remission and role of gut hormones. J Clin Endocrinol Metab (2013) 1.82
Association between -G308A tumor necrosis factor alpha gene polymorphism and schizophrenia. Mol Psychiatry (2001) 1.78
Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. Hum Mutat (2009) 1.77
Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet (1994) 1.73
Within-subject variability of measures of beta cell function derived from a 2 h OGTT: implications for research studies. Diabetologia (2007) 1.67
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet (2000) 1.64
The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. Cell Death Differ (2010) 1.63
Faecal occult blood test-based screening programme with high compliance for colonoscopy has a strong clinical impact on colorectal cancer. Br J Surg (2009) 1.62
Impaired beta cell glucose sensitivity and whole-body insulin sensitivity as predictors of hyperglycaemia in non-diabetic subjects. Diabetologia (2005) 1.61
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Identification of insulin secretory defects and insulin resistance during oral glucose tolerance test in a cohort of cystic fibrosis patients. Eur J Endocrinol (2011) 1.60
Beta cell function and its relation to insulin action in humans: a critical appraisal. Diabetologia (2004) 1.57
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Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells. Eur Respir J (2011) 1.53
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet (2003) 1.53
The role of beta-cell function and insulin sensitivity in the remission of type 2 diabetes after gastric bypass surgery. J Clin Endocrinol Metab (2011) 1.53
Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. Pediatr Cardiol (1997) 1.52
Systemic inhibition of nitric oxide synthesis in non-diabetic individuals produces a significant deterioration in glucose tolerance by increasing insulin clearance and inhibiting insulin secretion. Diabetologia (2013) 1.51
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. Genomics (1991) 1.51
Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1. J Invest Dermatol (1999) 1.50
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet (2005) 1.48
Echocardiographic and anatomic findings in atrioventricular discordance with ventriculoarterial concordance. Am J Cardiol (1988) 1.47
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
"Patch-glue" annular reconstruction for mitral valve replacement in severely calcified mitral annulus. Ann Thorac Surg (1997) 1.47
Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet (1983) 1.47
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
Association between the BDNF 196 A/G polymorphism and sporadic Alzheimer's disease. Mol Psychiatry (2002) 1.45
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes Chromosomes Cancer (1996) 1.45
Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci (2005) 1.43
Clinical evaluation of St Jude Medical Hemodynamic Plus versus standard aortic valve prostheses: The Italian multicenter, prospective, randomized study. J Thorac Cardiovasc Surg (2001) 1.43
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet (2005) 1.43
Partial correction of chromosome instability in Fanconi anemia by desferrioxamine. Hum Genet (1989) 1.43
Jeune syndrome associated with cystinuria: report of two sisters. Am J Med Genet (1990) 1.43
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome. Mol Med Today (2000) 1.41
Prenatal diagnosis of triose phosphate isomerase deficiency. Lancet (1989) 1.40
Analysis of 14 cystic fibrosis mutations in five south European populations. Hum Genet (1991) 1.40
Noonan syndrome with cardiac left-sided obstructive lesions. Hum Genet (1997) 1.39
[Assessment of withholding life support and withdrawing life support in a vital emergency department]. Ann Fr Anesth Reanim (2011) 1.39
Early and longer term effects of gastric bypass surgery on tissue-specific insulin sensitivity and beta cell function in morbidly obese patients with and without type 2 diabetes. Diabetologia (2011) 1.38
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat (1999) 1.37
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. J Med Genet (2004) 1.36
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet (2004) 1.35
[Familial translocation 2-D]. Ann Genet (1968) 1.35