Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma genePositionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndromeMutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoeaGenetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.Nephrin is specifically located at the slit diaphragm of glomerular podocytesIdentification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrheaSLC26A3 mutations in congenital chloride diarrheaCongenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal modelNormal growth and intravascular volume status with good metabolic control during peritoneal dialysis in infancy.Genetic kidney diseases disclose the pathogenesis of proteinuria.Long-term clinical outcome in patients with congenital chloride diarrhea.Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations.Surgical correction of spinal deformities after solid organ transplantation in childhoodPsychosocial adaptation after solid organ transplantation in children.Fine mapping of the congenital chloride diarrhea gene by linkage disequilibriumFine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes.Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.Incidence and predictors of fractures in children after solid organ transplantation: a 5-year prospective, population-based study.Spine after solid organ transplantation in childhood: a clinical, radiographic, and magnetic resonance imaging analysis of 40 patients.The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulatorTherapy insight: orthopedic complications after solid organ transplantation in childhood.Review article: the clinical management of congenital chloride diarrhoea.Update on SLC26A3 mutations in congenital chloride diarrhea.Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.Genomic structure of the human congenital chloride diarrhea (CLD) gene.Renal transplantation in infants.Long-term effects of paediatric kidney transplantation.Management of congenital nephrotic syndrome of the Finnish type.The use of fine-needle aspiration biopsy in detection of acute rejection in children after liver transplantation.Serum C-reactive protein in pediatric kidney and liver transplant patients.Fine-needle aspiration biopsy allows early detection of acute rejection in children after renal transplantation.Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.Paediatric kidney transplantation.Chronic rejection and late renal allograft dysfunction.Thirty years of renal transplantation in Helsinki.Exclusion of eight genes as mutated loci in congenital nephrotic syndrome of the Finnish type.Organ transplantation in children.Glomerular anionic charge in congenital nephrotic syndrome of the Finnish type.
P50
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P50
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forsker og professor
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Christer Holmberg
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Christer Holmberg
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Christer Holmberg
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Christer Holmberg
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Christer Holmberg
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Christer Holmberg
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Christer Holmberg
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Christer Holmberg
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Christer Holmberg
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P2038
Christer_Holmberg
P21
P27
P31
P569
1942-01-01T00:00:00Z