Search

Your search keyword '"Brandis, Matthias"' showing total 251 results
Start Over Author "Brandis, Matthias"
251 results on '"Brandis, Matthias"'

1. Overview

Author

Salusky, Isidro B., Brandis, Matthias, Greifer, Ira, Avner, Ellis, editor, Harmon, William, editor, Niaudet, Patrick, editor, and Yoshikawa, Norishige, editor

Published
2009
Full Text
View/download PDF

3. Erkrankungen der Nieren und des Urogenitaltraktes

Author

Brandis, Matthias, Schölmerich, Jürgen, editor, Burdach, S., editor, Drexler, H., editor, Hallek, M., editor, Hiddemann, W., editor, Hörl, W.H., editor, Klein, H., editor, Landthaler, M., editor, Lenz, K., editor, Mann, K., editor, Mössner, J., editor, Müller-Ladner, U., editor, Reichen, J., editor, Schmiegel, W., editor, Schröder, J.O., editor, Seeger, W., editor, Stremmel, W., editor, Suttorp, N., editor, Weilemann, L.S., editor, and Wöhrle, J.C., editor

Published
2005
Full Text
View/download PDF

4. Erkrankungen im Kindesalter

Author

Burdach, Stefan, Groneck, Peter, Prelss, Uwe, Lentze, Michael J., Muntau, Ania C., Preiss, Uwe, Kiess, Wieland, Horneff, Gerd, Grabitz, Ralph, Schobess, Rosemarie, Brandis, Matthias, Korinthenberg, Rudole, Rauch, Frank, Schönau, Eckhard, Schweigerer, Lothar, Schranz, Dietmar, Jorch, Gerhard, Lenard, Hans-Gerd, Boos, Joachim, Herpertz-Dahlmann, Beate, Mohnike, Klaus, Schölmerich, Jürgen, editor, Burdach, Stefan, editor, Diehl, Volker, editor, Drexler, Helmut, editor, Hiddemann, Wolfgang, editor, Hörl, Walter H., editor, Klein, Helmfried, editor, Landthaler, Michael, editor, Lenz, Kurt, editor, Mann, Klaus, editor, Mössner, Joachim, editor, Müller-Ladner, Ulf, editor, Reichen, Jürg, editor, Schmiegel, Wolff, editor, Schröder, Johann Oltmann, editor, Seeger, Werner, editor, Stremmel, Wolfgang, editor, Suttorp, Norbert, editor, and Weilemann, L. Sacha, editor

Published
2003
Full Text
View/download PDF

17. Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B

Author

Hildebrandt, Friedhelm, Nothwang, Hans Gerd, Vossmerbaumer, Urs, Springer, Cornelia, Strahm, Brigitte, Hoppe, Bernd, Keuth, Burkhard, Fuchshuber, Arno, Querfeld, Uwe, Neuhaus, Thomas J, and Brandis, Matthias

Subjects
Joubert syndrome -- Research, Kidney diseases -- Research, Kidney diseases -- Genetic aspects
Abstract

Byline: Friedhelm Hildebrandt (1), Hans Gerd Nothwang (1), Urs Vossmerbaumer (1), Cornelia Springer (1), Brigitte Strahm (1), Bernd Hoppe (2), Burkhard Keuth (2), Arno Fuchshuber (1), Uwe Querfeld (2), Thomas J Neuhaus (3), Matthias Brandis (1) Keywords: Key words: Joubert syndrome; Nephronophthisis; Coloboma of the eye; Cerebellar vermis aplasia Abstract: Joubert syndrome type B (JSB) is a developmental disorder of the nephronophthisis (NPH) complex with multiple organ involvement, including NPH, coloboma of the eye, aplasia of the cerebellar vermis, and the facultative symptoms of psychomotor retardation, polydactyly, and neonatal tachypnea. In isolated autosomal recessive NPH type 1 (NPH1), homozygous deletions have been described as causative in more than 80% of patients. Since different combinations of the extrarenal symptoms with NPH occur in JSB, a contiguous gene deletion syndrome in the NPH1 genetic region would seem a highly likely cause for JSB. We therefore examined 11 families with JSB for the presence of extended deletions at the NPH1 locus. Genomic DNA was examined using four consecutive polymerase chain reaction (PCR) markers that are deleted in NPH1 and three PCR makers flanking the NPH1 deletion. In all seven markers examined, there was no homozygous deletion detected in any of the 11 JSB families studied. Since these markers saturate the NPH1 deletion region at high density, this finding excludes the presence of large homozygous deletions of the NPH1 region in these JSB families, making it unlikely that deletions of the NPH1 region are a primary cause for JSB. Author Affiliation: (1) University Children's Hospital, Freiburg University, Freiburg, Germany, DE (2) University Children's Hospital, Cologne University, Cologne, Germany, DE (3) University Children's Hospital, Zurich University, Zurich, Switzerland, CH Article note: Received February 18, 1997 received in revised form and accepted June 26, 1997

Published
1998
Full Text
View/download PDF

45. CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis

Author

Gonska, Tanja, Lopes, Ana Isabel, Seydewitz, Hans H., Kuehr, Joachim, Mall, Marcus, Ramalho, Anabela, Eichler, Irmgard, Hirtz, Stephanie, Thomas, Jörg, Greiner, Peter, Barreto, Celeste, Rocha, Herculano, Amaral, Margarida D., Kunzelmann, Karl, and Brandis, Matthias

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, respiratory system, digestive system diseases, respiratory tract diseases
Abstract

BACKGROUND & AIMS: Cystic fibrosis (CF) is caused by over 1000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and presents with a widely variable phenotype. Genotype-phenotype studies identified CFTR mutations that were associated with pancreatic sufficiency (PS). Residual Cl- channel function was shown for selected PS mutations in heterologous cells. However, the functional consequences of most CFTR mutations in native epithelia are not well established. METHODS: To elucidate the relationships between epithelial CFTR function, CFTR genotype, and patient phenotype, we measured cyclic adenosine monophosphate (cAMP)-mediated Cl- secretion in rectal biopsy specimens from 45 CF patients who had at least 1 non-DeltaF508 mutation carrying a wide spectrum of CFTR mutations. We compared CFTR genotypes and clinical manifestations of CF patients who expressed residual CFTR-mediated Cl- secretion with patients in whom Cl- secretion was absent. RESULTS: Residual anion secretion was detected in 40% of CF patients, and was associated with later disease onset (P < 0.0001), higher frequency of PS (P < 0.0001), and less severe lung disease (P < 0.05). Clinical outcomes correlated with the magnitude of residual CFTR activity, which was in the range of approximately 12%-54% of controls. CONCLUSIONS: Specific CFTR mutations confer residual CFTR function to rectal epithelia, which is related closely to a mild disease phenotype. Quantification of rectal CFTR-mediated Cl- secretion may be a sensitive test to predict the prognosis of CF disease and identify CF patients who would benefit from therapeutic strategies that would increase residual CFTR activity.

Published
2004
Full Text
View/download PDF

48. Mapping of a gene for familial juvenile nephronophthisis: Refining the map and defining flanking markers on chromosome 2

Author

Hildebrandt, Friedhelm, Singh-Sawhney, Iva, Schnieders, Birgit, Centofante, Linda, Omran, Heymut, Pohlmann, Andreas, Schmaltz, Cornelius, Wedekind, Horst, Schubotz, Christian, Antignac, Corinne, Weber, James L., and Brandis, Matthias

Subjects
Genetic Markers, Male, Genetic Linkage, Chromosome Mapping, Original Articles, DNA, Satellite, Kidney Diseases, Cystic, Pedigree, Haplotypes, Chromosomes, Human, Pair 2, Humans, Kidney Failure, Chronic, Female, Kidney Diseases
Abstract

Familial juvenile nephronophthisis (NPH) is an autosomal recessive kidney disease that leads to end-stage renal failure in adolescence and is associated with the formation of cysts at the cortico-medullary junction of the kidneys. NPH is responsible for about 15% of end-stage renal disease in children, as shown by Kleinknecht and Habib. NPH in combination with autosomal recessive retinitis pigmentosa is known as the Senior-Løken syndrome (SLS) and exhibits renal pathology that is identical to NPH. We had excluded 40% of the human genome from linkage with a disease locus for NPH or SLS when Antignac et al. first demonstrated linkage for an NPH locus on chromosome 2. We present confirmation of linkage of an NPH locus to microsatellite markers on chromosome 2 in nine families with NPH. By linkage analysis with marker AFM262xb5 at locus D2S176, a maximum lod score of 5.05 at a theta max = .03 was obtained. In a large NPH family that yielded at D2S176 a maximum lod score of 2.66 at theta max = .0, markers AFM172xc3 and AFM016yc5, representing loci D2S135 and D2S110, respectively, were identified as flanking markers, thereby defining the interval for an NPH locus to a region of approximately 15 cM. Furthermore, the cytogenetic assignment of the NPH region was specified to 2p12-(2q13 or adjacent bands) by calculation of linkage between these flanking markers and markers with known unique cytogenetic assignment. The refined map may serve as a genetic framework for additional genetic and physical mapping of the region.

Published
1993

50. Clinical Quiz

Author

Lacher, Martin, primary, Schmitt-Gräff, Annette, additional, Greiner, Peter, additional, Brandis, Matthias, additional, Niemeyer, Charlotte, additional, and Kontny, Udo, additional

Published
2006
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results