Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype–genotype observations in four children
Azabdaftari, Aline, Sczakiel, Henrike L., Danyel, Magdalena, Kohlmaier, Benno, Mache, Christoph J., Stalke, Amelie, Pfister, Eva‐Doreen, Thumfart, Julia, Henning, Stephan, Knisely, A. S., Bufler, Philip
Published in Liver international (01.05.2023)
Published in Liver international (01.05.2023)
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Complement Inhibitor Eculizumab in Atypical Hemolytic Uremic Syndrome
Mache, Christoph J, Acham-Roschitz, Birgit, Frémeaux-Bacchi, Veronique, Kirschfink, Michael, Zipfel, Peter F, Roedl, Siegfried, Vester, Udo, Ring, Ekkehard
Published in Clinical journal of the American Society of Nephrology (01.08.2009)
Published in Clinical journal of the American Society of Nephrology (01.08.2009)
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Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaudé, Laure, Tête, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J, Schäfer, Tobias, Pape, Lars, Gödel, Markus, Huber, Tobias B, Benz, Marcus, Klaus, Günter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Morinière, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschké, Patrick, Ahluwalia, Tarunveer S, Köttgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, Simons, Matias
Published in The Journal of clinical investigation (01.06.2022)
Published in The Journal of clinical investigation (01.06.2022)
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Infants Requiring Maintenance Dialysis: Outcomes of Hemodialysis and Peritoneal Dialysis
Vidal, Enrico, MD, PhD, van Stralen, Karlijn J., PhD, Chesnaye, Nicholas C., MSc, Bonthuis, Marjolein, PhD, Holmberg, Christer, MD, Zurowska, Aleksandra, MD, Trivelli, Antonella, MD, Da Silva, José Eduardo Esteves, MD, Herthelius, Maria, MD, Adams, Brigitte, MD, Bjerre, Anna, MD, PhD, Jankauskiene, Augustina, MD, PhD, Miteva, Polina, MD, Emirova, Khadizha, MD, Bayazit, Aysun K., MD, Mache, Christoph J., MD, Sánchez-Moreno, Ana, MD, Harambat, Jérôme, MD, PhD, Groothoff, Jaap W., MD, PhD, Jager, Kitty J., MD, PhD, Schaefer, Franz, MD, Verrina, Enrico, MD
Published in American journal of kidney diseases (01.05.2017)
Published in American journal of kidney diseases (01.05.2017)
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Characterization of clays from the Foumban region (west Cameroon) and evaluation for refractory brick manufacture
Pountouenchi, A, Njoya, D, Njoya, A, Rabibisao, D, Mache, J. R, Yongue, R. F, Njopwouo, D, Fagel, N, Pilate, P, Van Parys, L
Published in Clay minerals (01.09.2018)
Published in Clay minerals (01.09.2018)
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Characterization of kaolin from Mankon, northwest Cameroon
Nzeukou Nzeugang, A, El Ouahabi, M, Aziwo, B, Mache, J. R, Mefire Mounton, H. S, Fagel, N
Published in Clay minerals (01.12.2018)
Published in Clay minerals (01.12.2018)
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Mineralogy and geochemical features of Foumban clay deposits (west Cameroon); genesis and potential applications
Nkalih Mefire, A, Yongue Fouateu, R, Njoya, A, Mache, J. R, Pilate, P, Hatert, F, Fagel, N
Published in Clay minerals (01.09.2018)
Published in Clay minerals (01.09.2018)
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Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome
Strobel, Stefanie, Hoyer, Peter F., Mache, Christoph J., Sulyok, Endre, Liu, Wei-shih, Richter, Heiko, Oppermann, Martin, Zipfel, Peter F., Józsi, Mihály
Published in Nephrology, dialysis, transplantation (01.01.2010)
Published in Nephrology, dialysis, transplantation (01.01.2010)
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Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, Asif, Christie, Paul T., Grigorieva, Irina V., Harding, Brian, Van Esch, Hilde, Ahmed, S. Faisal, Bitner-Glindzicz, Maria, Blind, Eberhard, Bloch, Catherine, Christin, Patricia, Clayton, Peter, Gecz, Jozef, Gilbert-Dussardier, Brigitte, Guillen-Navarro, Encarna, Hackett, Anna, Halac, Isil, Hendy, Geoffrey N., Lalloo, Fiona, Mache, Christoph J., Mughal, Zulf, Ong, Albert C.M., Rinat, Choni, Shaw, Nicholas, Smithson, Sarah F., Tolmie, John, Weill, Jacques, Nesbit, M. Andrew, Thakker, Rajesh V.
Published in Human molecular genetics (01.02.2007)
Published in Human molecular genetics (01.02.2007)
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Transforming growth factor-β receptor mutations and pulmonary arterial hypertension in childhood
HARRISON, Rachel E, BERGER, Rolf, HAWORTH, Sheila G, TULLOH, Robert, MACHE, Christoph J, MORRELL, Nicholas W, ALDRED, Micheala A, TREMBATH, Richard C
Published in Circulation (New York, N.Y.) (01.02.2005)
Published in Circulation (New York, N.Y.) (01.02.2005)
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Clay mineralogy in mylonite weathering products from Njimom (west Cameroon): origin and terracotta suitability
Nzeukou, A. N., Tsozué, D., Bomeni, I. Y., Mache, J. R., Kwopnang, M. R., Fagel, N.
Published in Discover Geoscience (03.10.2024)
Published in Discover Geoscience (03.10.2024)
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Journal Article
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function
Bedin, Mathilda, Boyer, Olivia, Servais, Aude, Li, Yong, Villoing-Gaudé, Laure, Tête, Marie-Josephe, Cambier, Alexandra, Hogan, Julien, Baudouin, Veronique, Krid, Saoussen, Bensman, Albert, Lammens, Florie, Louillet, Ferielle, Ranchin, Bruno, Vigneau, Cecile, Bouteau, Iseline, Isnard-Bagnis, Corinne, Mache, Christoph J, Schäfer, Tobias, Pape, Lars, Gödel, Markus, Huber, Tobias B, Benz, Marcus, Klaus, Günter, Hansen, Matthias, Latta, Kay, Gribouval, Olivier, Morinière, Vincent, Tournant, Carole, Grohmann, Maik, Kuhn, Elisa, Wagner, Timo, Bole-Feysot, Christine, Jabot-Hanin, Fabienne, Nitschké, Patrick, Ahluwalia, Tarunveer S, Köttgen, Anna, Andersen, Christian Brix Folsted, Bergmann, Carsten, Antignac, Corinne, Simons, Matias
Published in The Journal of clinical investigation (01.01.2020)
Published in The Journal of clinical investigation (01.01.2020)
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Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome
Schigt, Heidi, Bald, Martin, van der Eerden, Bram C J, Gal, Lars, Ilenwabor, Barnabas P, Konrad, Martin, Levine, Michael A, Li, Dong, Mache, Christoph J, Mackin, Sharon, Perry, Colin, Rios, Francisco J, Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M, Verkerk, Annemieke J M H, Zillikens, M Carola, Touyz, Rhian M, Hoorn, Ewout J, Hoenderop, Joost G J, de Baaij, Jeroen H F
Published in The journal of clinical endocrinology and metabolism (18.08.2023)
Published in The journal of clinical endocrinology and metabolism (18.08.2023)
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Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review
Schigt, Heidi, Bald, Martin, van der Eerden, Bram C J, Gal, Lars, Ilenwabor, Barnabas P, Konrad, Martin, Levine, Michael A, Li, Dong, Mache, Christoph J, Mackin, Sharon, Perry, Colin, Rios, Francisco J, Schlingmann, Karl Peter, Storey, Ben, Trapp, Christine M, Verkerk, Annemieke J M H, Zillikens, M Carola, Touyz, Rhian M, Hoorn, Ewout J, Hoenderop, Joost G J, de Baaij, Jeroen H F
Published in The journal of clinical endocrinology and metabolism (16.06.2023)
Published in The journal of clinical endocrinology and metabolism (16.06.2023)
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Importance of environmental transmission in cases of EHEC O157 causing hemolytic uremic syndrome
GRIF, K, ORTH, D, LEDERER, I, BERGHOLD, C, ROEDL, S, MACHE, C. J, DIERICH, M. P, WÜRZNER, R
Published in European journal of clinical microbiology & infectious diseases (01.04.2005)
Published in European journal of clinical microbiology & infectious diseases (01.04.2005)
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