Published in Pediatr Res on February 01, 1978
Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. Ann Lab Med (2012) 0.79
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. J Res Med Sci (2013) 0.77
Congenital chloride diarrhea: a review of twelve Arabian children. Clin Exp Gastroenterol (2013) 0.75
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell (1998) 9.85
Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A (1999) 3.77
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70
Health-related quality of life of adults surviving malignancies in childhood. Eur J Cancer (1996) 2.27
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int (2000) 1.65
The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol (1992) 1.55
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J Physiol (1999) 1.47
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
Fine-needle aspiration biopsy allows early detection of acute rejection in children after renal transplantation. Transplantation (2001) 1.39
Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. Arch Dis Child (1977) 1.37
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat (1998) 1.28
Health-related quality of life after organ transplantation in childhood. Pediatr Transplant (1997) 1.26
Role of nephrin in cell junction formation in human nephrogenesis. Am J Pathol (2000) 1.19
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. Am J Hum Genet (1998) 1.17
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet (2001) 1.14
Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H. Am J Transplant (2007) 1.12
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscul Disord (1995) 1.10
Congenital chloride diarrhoea. Clin Gastroenterol (1986) 1.08
Oncogenicity of gibbon type-C myelogenous leukemia virus. Int J Cancer (1980) 1.08
The glpP and glpF genes of the glycerol regulon in Bacillus subtilis. J Gen Microbiol (1993) 1.07
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet (1994) 1.07
Review article: the clinical management of congenital chloride diarrhoea. Aliment Pharmacol Ther (2009) 1.07
JNK2 mediates TNF-induced cell death in mouse embryonic fibroblasts via regulation of both caspase and cathepsin protease pathways. Cell Death Differ (2004) 1.06
Congenital Na+ diarrhea: a new type of secretory diarrhea. J Pediatr (1985) 1.03
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. Histochem Cell Biol (2000) 1.03
Glomerular sclerosis in kidneys with congenital nephrotic syndrome (NPHS1). Kidney Int (2006) 1.03
The renal lesion in congenital chloride diarrhea. J Pediatr (1977) 1.01
Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet (1995) 1.01
Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA. Genomics (2001) 1.01
Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. Hum Mol Genet (1994) 1.00
Colonic electrolyte transport in health and in congenital chloride diarrhea. J Clin Invest (1975) 0.99
Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea. Mol Hum Reprod (2006) 0.98
Haplotype analysis of congenital nephrotic syndrome of the Finnish type in non-Finnish families. J Am Soc Nephrol (1996) 0.98
The nephropathy of type I tyrosinemia after liver transplantation. Pediatr Res (1995) 0.98
Rapidity of C-reactive protein in detecting potential septicemia. Pediatr Infect Dis (1983) 0.93
Expression of nephrin in pediatric kidney diseases. J Am Soc Nephrol (2001) 0.92
Determination of chloride and bicarbonate permeabilities in proximal convoluted tubules. Am J Physiol (1981) 0.92
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. Hum Mutat (2001) 0.89
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. Pediatr Res (1991) 0.88
Graft function 5-7 years after renal transplantation in early childhood. Transplantation (1999) 0.88
Circulating luteinizing hormone receptor inhibitor(s) in boys with chronic renal failure. Kidney Int (1997) 0.88
Quality of life in pre-adolescence: a 17-dimensional health-related measure (17D). Qual Life Res (1996) 0.87
Quality of life in early adolescence: a sixteen-dimensional health-related measure (16D). Qual Life Res (1996) 0.87
Evidence for pre-hepatic metabolism of oral cyclosporine in children. Br J Clin Pharmacol (1991) 0.86
Serum levels of oncofetal markers CA 125, CA 19-9, and alpha-fetoprotein in children with hereditary tyrosinemia type I. Pediatr Res (1994) 0.86
Mechanisms of hyperuricemia in cyclosporine-treated renal transplanted children. Nephron (1996) 0.85
Lack of solvent drag of NaCl and NaHCO3 in rabbit proximal tubules. Am J Physiol (1982) 0.85
Mechanisms of proteinuria: vascular permeability factor in congenital nephrotic syndrome of the Finnish type. Pediatr Res (1996) 0.85
Depletion of the AP-1 repressor JDP2 induces cell death similar to apoptosis. Biochim Biophys Acta (2005) 0.84
Genetic kidney diseases disclose the pathogenesis of proteinuria. Ann Med (2001) 0.84
The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci U S A (1993) 0.84
Kidney function in cyclosporine-treated pediatric heart transplant recipients. J Heart Lung Transplant (1997) 0.84
Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis. Kidney Int (1997) 0.84
[Qualitative research in health services research - discussion paper, Part 1: What is the idea?]. Gesundheitswesen (2012) 0.84
Differences in linear growth and cortisol production between liver and renal transplant recipients on similar immunosuppression. Transplantation (1995) 0.83
Pharmacokinetically determined cyclosporine dosage in young children. Pediatr Nephrol (1991) 0.83
Apoptotic cell death in human chronic renal allograft rejection. Transplantation (1997) 0.83
Recombinant human growth hormone treatment in short children with chronic renal disease, before transplantation or with functioning renal transplants: an interim report on five European studies. Acta Paediatr Scand Suppl (1990) 0.82
Methylprednisolone exposure, rather than dose, predicts adrenal suppression and growth inhibition in children with liver and renal transplants. J Clin Endocrinol Metab (1997) 0.82
Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type. Kidney Int (1994) 0.82
Factors affecting growth after pediatric liver transplantation. Transplant Proc (1994) 0.82
The incidence of coccidioidomycosis among nonhuman primates housed outdoors at the California Primate Research Center. J Med Primatol (1980) 0.82
Successful liver transplantation after induction chemotherapy in children with inoperable, multifocal primary hepatic malignancy. Transplantation (1999) 0.82
Infections in pediatric kidney and liver transplant patients after perioperative hospitalization. Transplantation (2000) 0.82
Clinical outcome of pediatric patients on peritoneal dialysis under adequacy control. Pediatr Nephrol (2000) 0.81
Ganciclovir in the treatment of severe cytomegalovirus disease in liver transplant patients. Transplant Proc (1990) 0.81
Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis. Pediatr Nephrol (1991) 0.81
Peritoneal dialysis in children under 5 years of age. Perit Dial Int (1998) 0.81
Hypertension, cardiac state, and the role of volume overload during peritoneal dialysis. Pediatr Nephrol (2001) 0.81
Morphologic changes suggesting abnormal renal differentiation in congenital nephrotic syndrome. Pediatr Res (1998) 0.81
Noncollagenous matrix components of glomeruli in congenital nephrotic syndrome of the Finnish type: evidence of abnormal splitting of nidogen? Exp Nephrol (1997) 0.81
Glucocorticoids and growth problems. Acta Paediatr Suppl (1995) 0.80
Post-transplantation nephrosis in congenital nephrotic syndrome of the Finnish type. Kidney Int (1993) 0.80
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. Genome Res (1996) 0.80
Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy. Pediatr Neurol (1990) 0.80
Renal allograft histology and correlation with function in children on triple therapy. Nephrol Dial Transplant (1995) 0.80
[Qualitative research in health services research - discussion paper, Part 2: Qualitative research in health services research in Germany - an overview]. Gesundheitswesen (2012) 0.80
Impaired bone health in adolescents after liver transplantation. Am J Transplant (2007) 0.80
Adequacy of dialysis with tidal and continuous cycling peritoneal dialysis in children. Nephrol Dial Transplant (2000) 0.80
Growth delay after liver transplantation in childhood: studies of underlying mechanisms. Pediatr Res (1995) 0.79
Course of renal allograft histopathology after transplantation in early childhood. Transplantation (2000) 0.79
Genetic control of serum neutralizing-antibody response to rabies vaccination and survival after a rabies challenge infection in mice. J Virol (1986) 0.79
Inappropriate secretion of antiduretic hormone, hypertension, and hypoplastic corpus callosum. J Clin Endocrinol Metab (1977) 0.79
Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model. Genomics (1994) 0.79
Rapid Ca2+ mobilization in single LGL cells upon interaction with K562 target cells--role of the CD18 and CD16 molecules. Cell Immunol (1995) 0.79
Growth and renal function after liver transplantation in children. Transplant Proc (1992) 0.79
Distribution of renal integrin receptors and their ligands in congenital nephrotic syndrome of the Finnish type. Virchows Arch (1996) 0.79
Influence of age, time, and peritonitis on peritoneal transport kinetics in children. Perit Dial Int (1999) 0.78
C-reactive protein--an indicator of generalized bacterial infection in children with nephrotic syndrome. Acta Paediatr Scand (1986) 0.78
Scoliosis after solid organ transplantation in children and adolescents. Am J Transplant (2006) 0.78
Interstitial nephritis of acute onset. Arch Dis Child (1985) 0.78
Genomic structure of the human congenital chloride diarrhea (CLD) gene. Gene (1998) 0.78
Impaired renal function after pregnancy in renal transplant recipients. Transplantation (1993) 0.78
Types of fluid disorder in children with bacterial meningitis. Acta Paediatr Scand (1991) 0.78
Changes in biological activity and immunoreactive mass of lipoprotein lipase in congenital nephrosis: relationship to hypertriglyceridaemia. Eur J Clin Invest (1993) 0.77
Fatal unresponsive villous atrophy of the jejunum, connective tissue disease and diabetes in a girl with intestinal epithelial cell antibody. Acta Paediatr Scand (1985) 0.77
Paediatric kidney transplantation. Ann Med (1998) 0.77
Tubular effects of cyclosporine in pediatric renal transplant recipients. Transplant Proc (1996) 0.77