Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Denise Emmerich"'
Autor:
Karolina Kobus, Daniela Hartl, Claus Eric Ott, Monika Osswald, Angela Huebner, Maja von der Hagen, Denise Emmerich, Jirko Kühnisch, Hans Morreau, Frederik J Hes, Victor F Mautner, Anja Harder, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczyk
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0119030 (2015)
BackgroundNeurofibromatosis type I (NF1, MIM#162200) is a relatively frequent genetic condition, which predisposes to tumor formation. Apart from tumors, individuals with NF1 often exhibit endocrine abnormalities such as precocious puberty (2,5-5% of
Externí odkaz:
https://doaj.org/article/e0dfcdbafa084e828677cdf02a011cd5
Autor:
Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Karolina Kobus, Julia Grohmann, Nadine Kossler, Peter Varga, Monika Osswald, Denise Emmerich, Sigrid Tinschert, Falk Thielemann, Georg Duda, Wenke Seifert, Thaqif El Khassawna, David A Stevenson, Florent Elefteriou, Uwe Kornak, Kay Raum, Peter Fratzl, Stefan Mundlos, Mateusz Kolanczyk
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86115 (2014)
Bone fragility due to osteopenia, osteoporosis or debilitating focal skeletal dysplasias is a frequent observation in the Mendelian disease Neurofibromatosis type 1 (NF1). To determine the mechanisms underlying bone fragility in NF1 we analyzed two c
Externí odkaz:
https://doaj.org/article/de9ddbe8b36945668ba2b0011dbb6f5a
Autor:
Denise Emmerich, Björn Fischer-Zirnsak, Peter Ruokonen, Barbara Seliger, Renate Buchen, Eva Klopocki, Peter Krawitz, Jochen Hecht, Katrin Hoffmann, Thomas Reinhard, Dagmar Quandt, Ekkehart Lausch, Thomas Hollemann, Thorsten Pfirrmann, Bernhard Zabel, Claudia Auw-Haedrich, Pablo Villavicencio-Lorini, Sigmar Stricker, Peter Meyer
Chordin-Like 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized by enlarged anterior eye segments. Mosaic corneal degeneration, presenile cataract and secondary glaucoma are associated with XMC. Beside that CHRDL1 enco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf4ca420cd52c7cb2cb231f36f77f8b
http://doc.rero.ch/record/300559/files/ddv063.pdf
http://doc.rero.ch/record/300559/files/ddv063.pdf
Autor:
Denise Emmerich, Jochen Hecht, Peter Krawitz, Sabine Uhrig, Claire Schlack, Gernot Grangl, Stefan Mundlos, Denise Horn, Karolina Kobus, Katrin Marschner, Barbara Plecko, Peter N. Robinson, Marta Miaczynska, Anna Hupalowska, Uwe Kornak, Mateusz Kolanczyk
Publikováno v:
European journal of human genetics
Ritscher-Schinzel syndrome (RSS)/3C (cranio-cerebro-cardiac) syndrome (OMIM#220210) is a rare and clinically heterogeneous developmental disorder characterized by intellectual disability, cerebellar brain malformations, congenital heart defects, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b35c86da40822b374fbbe92a1408856b
https://hdl.handle.net/11858/00-001M-0000-0025-7892-711858/00-001M-0000-0025-7894-3
https://hdl.handle.net/11858/00-001M-0000-0025-7892-711858/00-001M-0000-0025-7894-3
Autor:
Julia Grohmann, Denise Emmerich, Jirko Kühnisch, Nadine Kossler, Uwe Kornak, Mateusz Kolanczyk, Susanne Schrof, Sigrid Tinschert, Kay Raum, Claudia Lange, Stefan Mundlos, Jong Seto, Falk Thielemann, David A. Stevenson, Thaqif El Khassawna, Karolina Kobus, Peter Varga, Monika Osswald, Georg N. Duda, Florent Elefteriou, Wenke Seifert, Peter Fratzl, Sabine Stumpp
Publikováno v:
PLoS One
PLoS ONE, Vol 9, Iss 1, p e86115 (2014)
PLoS ONE
PLoS ONE, Vol 9, Iss 1, p e86115 (2014)
PLoS ONE
Bone fragility due to osteopenia, osteoporosis or debilitating focal skeletal dysplasias is a frequent observation in the Mendelian disease Neurofibromatosis type 1 (NF1). To determine the mechanisms underlying bone fragility in NF1 we analyzed two c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ceb83280a21bb4004a45b2c613a19b3
https://hdl.handle.net/11858/00-001M-0000-0025-B389-511858/00-001M-0000-0025-B382-4
https://hdl.handle.net/11858/00-001M-0000-0025-B389-511858/00-001M-0000-0025-B382-4
Autor:
Monika Osswald, Tomasz Zemojtel, Peter N. Robinson, Martin Vingron, Denise Emmerich, Malte Spielmann, Peter Krawitz, Verena Heinrich, Katharina Wimmer, Jirko Kühnisch, Jochen Hecht, Sigrid Tinschert, Ute Müller, Stefan Mundlos, Karolina Kobus, Mateusz Kolanczyk, Peter Berlien, Victor-F Mautner
Publikováno v:
European journal of human genetics
Neurofibromatosis type 1 (NF1) (MIM#162200) is a relatively frequent genetic condition that predisposes to tumor formation. The main types of tumors occurring in NF1 patients are cutaneous and subcutaneous neurofibromas, plexiform neurofibromas, opti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::286d844ce0ec40f56e2b660611d7ea0a
https://pubmed.ncbi.nlm.nih.gov/25293717
https://pubmed.ncbi.nlm.nih.gov/25293717