Search Results - "Lennert, T"
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Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen
Published in Nature genetics (01-07-1994)“…Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The…”
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Early age-dependent growth impairment in chronic renal failure
Published in Pediatric nephrology (Berlin, West) (01-06-1996)Get full text
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Growth charts for prepubertal children with chronic renal failure due to congenital renal disorders
Published in Pediatric nephrology (Berlin, West) (01-06-1996)Get full text
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Pädiater Georg Bessau: Erosion eines Denkmals
Published in Monatsschrift Kinderheilkunde (2014)Get full text
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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
Published in Kidney international (01-03-2005)“…Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). ARPKD is associated with mutations in the…”
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Dynamics of Oscillatory Activity during Auditory Decision Making
Published in Cerebral cortex (New York, N.Y. 1991) (01-10-2007)“…Perceptual decision making requires the comparison and integration of sensory evidence to generate a behavioral response. We used magnetoencephalography to…”
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Prenatal diagnosis of diffuse mesangial glomerulosclerosis by ultrasonography: a longitudinal study of a case in an affected family
Published in Fetal diagnosis and therapy (01-03-1996)“…The 4th child of an Arabian consanguineous family with 2 previous infant deaths due to diffuse mesangial glomerulosclerosis (at the ages of 1 and 44 days) and…”
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Response profiles of macaque dorsolateral prefrontal cortex neurons during a rule-guided target selection and sustained attention task
Published in Journal of vision (Charlottesville, Va.) (02-08-2010)“…Abstract only…”
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MEG responses in the human brain during the selection of visual targets
Published in Journal of vision (Charlottesville, Va.) (19-03-2010)“…Abstract only…”
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Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome
Published in American journal of medical genetics. Part A (01-10-2004)“…We observed the occurrence of congenital nephrotic syndrome (CNS) and distinct ocular anomalies in two unrelated families. Eleven children from both families…”
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Munchausen by proxy or polle syndrome: which term is correct?
Published in Pediatrics (Evanston) (01-10-1984)“…The terms Munchausen syndrome by proxy and Polle syndrome have both been used to describe the situation in which one person persistently fabricates illness on…”
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MEG activity in visual areas of the human brain during target selection and sustained attention
Published in Journal of vision (Charlottesville, Va.) (02-08-2010)“…Abstract only…”
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Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus
Published in The journal of clinical endocrinology and metabolism (01-11-2002)“…By screening patients with X-linked nephrogenic diabetes insipidus (NDI) for mutations within the V(2) vasopressin receptor (AVPR2) gene, we have identified…”
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The value of conjunctival biopsy in childhood cystinosis
Published in Histology and histopathology (01-07-1989)“…Cystinosis is frequently presented with cystine storage in the cornea and conjunctiva, and the diagnosis can be established by slit-lamp examination. It can…”
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Autosomal recessive and dominant forms of polycystic kidney disease are not allelic
Published in Human genetics (01-11-1987)“…Linkage analysis has been carried out in 11 kindreds with autosomal recessive polycystic kidney disease (ARPKD) using the genetic marker 3'HVR, closely linked…”
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Multicystic renal dysplasia: nephrectomy versus conservative treatment
Published in Contributions to nephrology (1988)Get more information
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The nephronophthisis complex. A clinicopathologic study in children
Published in Virchows Archiv A Pathological Anatomy and Histology (1982)Get full text
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A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2
Published in Journal of the American Society of Nephrology (01-06-2003)“…Steroid-resistant nephrotic syndrome (SRNS) leads to end-stage renal disease (ESRD) in childhood or young adulthood. Positional cloning for genes causing SRNS…”
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Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement
Published in Acta Paediatrica (01-12-1998)“…A case of diffuse mesangial sclerosis (DMS) associated with a number of undescribed congenital anomalies is reported. The occurrence of additional anomalies,…”
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