Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Nadine Reintjes"'
Autor:
Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Nadia Garibaldi, Nadine Reintjes, Claudia Dafinger, Max Christoph Liebau, Ulrich Baumann, Matthias Mörgelin, Antonella Forlino, David J Stephens, Christian Netzer, Frank Zaucke, Mirko Rehberg
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 7, Pp n/a-n/a (2023)
Externí odkaz:
https://doaj.org/article/077e278d65f247e7b8af5b5934cd8fe4
Autor:
Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck, Roman-Ulrich Müller
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-12 (2017)
Abstract Background Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutation
Externí odkaz:
https://doaj.org/article/a4c7d074c4dd4744b817650dd1bc0c4a
Autor:
Francisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, Anke L L Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J M Bindels, Joost G J Hoenderop
Publikováno v:
PLoS Genetics, Vol 10, Iss 4, p e1004267 (2014)
Intellectual disability and seizures are frequently associated with hypomagnesemia and have an important genetic component. However, to find the genetic origin of intellectual disability and seizures often remains challenging because of considerable
Externí odkaz:
https://doaj.org/article/ba2702b3eac748c798690519ee49464a
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e60264 (2013)
It is known that FGFR2 gene variations confer a risk for breast cancer. FGFR2 and FGF10, the main ligand of FGFR2, are both overexpressed in 5-10% of breast tumors. In our study, we sequenced the most important coding regions of FGFR2 in somatic tumo
Externí odkaz:
https://doaj.org/article/c1a3f6c7e4274602b33e67d2ab0bd3d8
Autor:
Carolina Araujo Moreno, Débora Romeo Bertola, Bernd Wollnik, Cecilia Giunta, Chong Ae Kim, Peter Nürnberg, Eugênia Ribeiro Valadares, Katharina Keupp, Marianne Rohrbach, Janine Altmüller, Tulio Canella Bezerra Carniero, Yun Li, Oliver Semler, Christian Netzer, Bernhard Zabel, Filippo Beleggia, Guilherme L. Yamamoto, Marco Janner, Arsonval Lamounier, Matthew L. Warman, Gökhan Yigit, Nadine Reintjes, Lutz Garbes, Sofia Maia, Ekkehart Lausch, Shahida Moosa, Denise P. Cavalcanti, Sérgio B. Sousa, Rachel Sayuri Honjo, Jorge M. Saraiva, Pablo Villavicencio Lorini, Hamilton Cabral de Menezes, Ana Beleza-Meireles
Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified four homozygous truncation or frame
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678c2ab1d6c00d2ce84f9e443c08aea4
Autor:
Max C. Liebau, Bodo B. Beck, Nadine Reintjes, Friederike Körber, Lutz T. Weber, Bernd Hoppe, Kathrin Ebner, Mato Nagel, Jörg Dötsch, Markus Feldkötter
Publikováno v:
Clinical nephrology. 88(1)
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of dialysis-requiring end-stage renal disease in adults and is characterized by the slowly progressing replacement of renal tissue by focal macrocysts. Alport syndr
Autor:
Roman-Ulrich Müller, Heike Göbel, Francesca Fabretti, Nadine Reintjes, Thomas Benzing, Hakam Gharbi, Tripti Mishra, Bodo B. Beck, Malte P. Bartram, Stefan Haneder, Alexander C. Adam, Bernhard Schermer, Mareike Franke
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-12 (2017)
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-12 (2017)
Background Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the
Publikováno v:
European Journal of Medical Genetics. 56:458-462
Distal deletion 9p is associated with gonadal dysfunction in XY individuals. Little is known about the gonadal function and fertility of XX females with this condition. We report on an affected 31-year-old infertile woman presenting with premature ov
Autor:
Sabrina Regele, Birgit Neophytou, G. Christoph Korenke, Erwin van Wijk, Joost G. J. Hoenderop, René J. M. Bindels, Gert Flik, Karl P. Schlingmann, Martin Konrad, Stephan Rust, Nadine Reintjes, Francisco J. Arjona, Jeroen H. F. de Baaij, Anke L. L. Lameris
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 10, Iss 4, p e1004267 (2014)
Plos Genetics, 10, 4
Plos Genetics, 10
PLoS Genetics, Vol 10, Iss 4, p e1004267 (2014)
Plos Genetics, 10, 4
Plos Genetics, 10
Intellectual disability and seizures are frequently associated with hypomagnesemia and have an important genetic component. However, to find the genetic origin of intellectual disability and seizures often remains challenging because of considerable
Publikováno v:
PLoS ONE
PLoS ONE, Vol 8, Iss 3, p e60264 (2013)
PLoS ONE, Vol 8, Iss 3, p e60264 (2013)
It is known that FGFR2 gene variations confer a risk for breast cancer. FGFR2 and FGF10, the main ligand of FGFR2, are both overexpressed in 5-10% of breast tumors. In our study, we sequenced the most important coding regions of FGFR2 in somatic tumo