Search Results - "Mücher, G"

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen by Bachner, L, Schärer, K, Kääriäinen, H, von Mühlendahl, K. E, Zerres, K, Deschennes, G, Steinbicker, V, Eggermann, T, Rudnik-Schöneborn, S, Mücher, G, Knapp, M, Neumann, H. P. H, Wirth, B, Misselwitz, J, Pirson, Y, Lennert, T

“…Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The…”
Get full text

Fine Mapping of the Autosomal Recessive Polycystic Kidney Disease Locus (PKHD1) and the Genes MUT, RDS, CSNK2β, and GSTA1 at 6p21.1–p12 by Mücher, Gabi, Becker, Jutta, Knapp, Michael, Büttner, Reinhard, Moser, Markus, Rudnik-Schöneborn, Sabine, Somlo, Stefan, Germino, Greg, Onuchic, Luiz, Avner, Ellis, Guay-Woodford, Lisa, Zerres, Klaus

“…A total of 33 polymorphic markers were analyzed to generate a high-resolution genetic linkage map of the locus PKHD1 (polycystic kidney and hepatic disease 1)…”
Get full text

Fine Mapping of MEP1A, the Gene Encoding the α Subunit of the Metalloendopeptidase Meprin, to Human Chromosome 6p21 by Jiang, W.P., Dewald, G., Brundage, E., Mucher, G., Schildhaus, H.U., Zerres, K., Bond, J.S.

“…Meprins are kidney and intestinal proteases encoded by two distinct genes, MEP1A and MEP1B. MEP1A was previously mapped to human chromosome 6p, by the use of…”
Get full text

An Integrated Genetic and Physical Map of the Autosomal Recessive Polycystic Kidney Disease Region by Lens, Xose M., Onuchic, Luiz F., Wu, Guanqing, Hayashi, Tomohito, Daoust, Martin, Mochizuki, Toshio, Santarina, Lorenzo B., Stockwin, John M., Mücher, Gabi, Becker, Jutta, Sweeny, William E., Avner, Ellis D., Guay-Woodford, Lisa, Zerres, Klaus, Somlo, Stefan, Germino, Gregory G.

“…Autosomal recessive polycystic kidney disease is one of the most common hereditary renal cystic diseases in children. Genetic studies have recently assigned…”
Get full text

Autosomal recessive polycystic kidney disease by Zerres, K, Becker, J, Mücher, G, Rudnik-Schöneborn, S

Get more information

Autosomal recessive polycystic kidney disease by ZERRES, K, RUDNIK-SCHÖNEBORN, S, STEINKAMM, C, BECKER, J, MÜCHER, G

“…Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the…”
Get full text

A HhaI polymorphism in the human MEP1A gene encoding the alpha subunit of the metalloendopeptidase meprin by Dewald, G, Schildhaus, H U, Mücher, G, Zerres, K

“…Meprins are membrane-bound oligomeric metalloendopeptidases belonging to the astacin protein family. The meprin isolated from human small intestinal mucosa was…”
Get more information

Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12 by Mücher, G, Wirth, B, Zerres, K

Get full text

Autosomal recessive polycystic kidney disease: clinical features and genetics by Zerres, K, Rudnik-Schöneborn, S, Mücher, G

Get more information

Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p by Hallermann, C., Mücher, G., Kohlschmidt, N., Wellek, B., Schumacher, R., Bahlmann, F., Shahidi-Asl, P., Theile, U., Rudnik-Schöneborn, S., Müntefering, H., Zerres, K.

“…We report on two sibs, both males, one born at 37 the other at 24 weeks of gestation, both with a syndrome similar to that seen in three sets of sibs by…”
Get full text

Autosomal recessive polycystic kidney disease by ZERRES, K, RUDNIK-SCHÖNEBORN, S, STEINKAMM, C, MÜCHER, G

“…Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood. With…”
Get full text

Early morphological evidence of autosomal recessive polycystic kidney disease by Zerres, K, Mücher, G, Rudnik-Schöneborn, S, Smith, P, Lunt, P, Charles, A, Porter, H

Get more information

Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4 by ZERRES, K, MÜCHER, G, RUDNIK-SCHÖNEBORN, S

“…Linkage analysis in 19 families with autosomal recessive polycystic kidney disease (ARPKD) has shown that ARPKD is not linked to the recently assigned second…”
Get full text

Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2β by Moser, Markus, Pscherer, Armin, Roth, Christina, Becker, Jutta, Mücher, Gabi, Zerres, Klaus, Dixkens, Christa, Weis, Joachim, Guay-Woodford, Lisa, Buettner, Reinhard, Fässler, Reinhard

“…Expression of AP-2 transcription factors has been detected previously in embryonic renal tissues. We show here that AP-2β −/− mice complete embryonic…”
Get full text

Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta by Moser, M, Pscherer, A, Roth, C, Becker, J, Mücher, G, Zerres, K, Dixkens, C, Weis, J, Guay-Woodford, L, Buettner, R, Fässler, R

“…Expression of AP-2 transcription factors has been detected previously in embryonic renal tissues. We show here that AP-2beta -/- mice complete embryonic…”
Get full text

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology by Zerres, Klaus, Mücher, Gabi, Becker, Jutta, Steinkamm, Carsten, Rudnik-Schöneborn, Sabine, Heikkilä, Päivi, Rapola, Juhani, Salonen, Riitta, Germino, Gregory G., Onuchic, Luiz, Somlo, Stefan, Avner, Ellis D., Harman, Leigh A., Stockwin, John M., Guay-Woodford, Lisa M.

“…Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal…”
Get full text

Autosomal recessive polycystic kidney disease: mapping to chromosomal region of 6p21-cen in a Turkish child by Beşbaş, N, Ozen, S, Saatçi, U, Cağlar, M, Mucher, G, Zerres, K

“…Autosomal recessive polycystic kidney disease (ARPCD) is a congenital kidney disease with severe prognosis. We present a male infant who was diagnosed…”
Get more information